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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NIPBL-SPEF2 (FusionGDB2 ID:59213)

Fusion Gene Summary for NIPBL-SPEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: NIPBL-SPEF2
Fusion gene ID: 59213
HgeneTgene
Gene symbol

NIPBL

SPEF2

Gene ID

25836

79925

Gene nameNIPBL cohesin loading factorsperm flagellar 2
SynonymsCDLS|CDLS1|IDN3|IDN3-B|Scc2CT122|KPL2|SPGF43
Cytomap

5p13.2

5p13.2

Type of geneprotein-codingprotein-coding
Descriptionnipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homologsperm flagellar protein 2cancer/testis antigen 122testis tissue sperm-binding protein Li 47a
Modification date2020031320200313
UniProtAcc

Q6KC79

.
Ensembl transtripts involved in fusion geneENST00000504430, ENST00000282516, 
ENST00000448238, 		ENST00000282469, 
ENST00000356031, ENST00000440995, 
ENST00000509059, ENST00000303129, 
Fusion gene scores* DoF score26 X 13 X 16=54088 X 10 X 12=960
# samples 4316
** MAII scorelog2(43/5408*10)=-3.65268658669272
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/960*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NIPBL [Title/Abstract] AND SPEF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNIPBL(36958333)-SPEF2(35753726), # samples:3
NIPBL(37046301)-SPEF2(35641533), # samples:3
NIPBL(36877280)-SPEF2(35753726), # samples:3
NIPBL(36877280)-SPEF2(35800070), # samples:3
Anticipated loss of major functional domain due to fusion event.NIPBL-SPEF2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
NIPBL-SPEF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NIPBL-SPEF2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNIPBL

GO:0000122

negative regulation of transcription by RNA polymerase II

18854353

HgeneNIPBL

GO:0031065

positive regulation of histone deacetylation

18854353

HgeneNIPBL

GO:0045892

negative regulation of transcription, DNA-templated

18854353

HgeneNIPBL

GO:0071921

cohesin loading

22628566


check buttonFusion gene breakpoints across NIPBL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SPEF2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-FJ-A3Z7-01ANIPBLchr5

36877280

-SPEF2chr5

35659121

+
ChimerDB4BLCATCGA-FJ-A3Z7-01ANIPBLchr5

36877280

+SPEF2chr5

35659121

+
ChimerDB4HNSCTCGA-CV-7418-01ANIPBLchr5

36958333

-SPEF2chr5

35753726

+
ChimerDB4HNSCTCGA-CV-7418-01ANIPBLchr5

36958333

+SPEF2chr5

35753726

+
ChimerDB4HNSCTCGA-CV-7418NIPBLchr5

36958333

+SPEF2chr5

35753726

+
ChimerDB4SARCTCGA-DX-A8BM-01ANIPBLchr5

36976504

-SPEF2chr5

35628562

+
ChimerDB4SARCTCGA-DX-A8BM-01ANIPBLchr5

36976504

+SPEF2chr5

35628562

+
ChimerDB4SKCMTCGA-GN-A264-06ANIPBLchr5

37046301

-SPEF2chr5

35641533

+
ChimerDB4SKCMTCGA-GN-A264-06ANIPBLchr5

37046301

+SPEF2chr5

35641533

+
ChimerDB4STADTCGA-BR-A4QI-01ANIPBLchr5

36877280

+SPEF2chr5

35628562

+
ChimerDB4UCECTCGA-AX-A3G4-01ANIPBLchr5

36877280

-SPEF2chr5

35753726

+
ChimerDB4UCECTCGA-AX-A3G4-01ANIPBLchr5

36877280

+SPEF2chr5

35753726

+
ChimerDB4UCSTCGA-NF-A4WX-01ANIPBLchr5

36877280

-SPEF2chr5

35800070

+
ChimerDB4UCSTCGA-NF-A4WX-01ANIPBLchr5

36877280

+SPEF2chr5

35800070

+
ChimerDB4UCSTCGA-NF-A4WXNIPBLchr5

36877280

+SPEF2chr5

35800069

+
ChimerDB4UCSTCGA-NF-A4WXNIPBLchr5

36877280

+SPEF2chr5

35800070

+
ChimerDB4UCSTCGA-NF-A4WXNIPBLchr5

36877280

+SPEF2chr5

35806809

+


Top

Fusion Gene ORF analysis for NIPBL-SPEF2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000504430ENST00000282469NIPBLchr5

36976504

+SPEF2chr5

35628562

+
3UTR-3CDSENST00000504430ENST00000356031NIPBLchr5

36976504

+SPEF2chr5

35628562

+
3UTR-3CDSENST00000504430ENST00000440995NIPBLchr5

36976504

+SPEF2chr5

35628562

+
3UTR-3CDSENST00000504430ENST00000509059NIPBLchr5

36976504

+SPEF2chr5

35628562

+
3UTR-intronENST00000504430ENST00000303129NIPBLchr5

36976504

+SPEF2chr5

35628562

+
5CDS-intronENST00000282516ENST00000282469NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000282516ENST00000303129NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000282516ENST00000303129NIPBLchr5

36976504

+SPEF2chr5

35628562

+
5CDS-intronENST00000282516ENST00000303129NIPBLchr5

37046301

+SPEF2chr5

35641533

+
5CDS-intronENST00000282516ENST00000356031NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000282516ENST00000440995NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000282516ENST00000509059NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000448238ENST00000282469NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000448238ENST00000303129NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000448238ENST00000303129NIPBLchr5

36976504

+SPEF2chr5

35628562

+
5CDS-intronENST00000448238ENST00000303129NIPBLchr5

37046301

+SPEF2chr5

35641533

+
5CDS-intronENST00000448238ENST00000356031NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000448238ENST00000440995NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5CDS-intronENST00000448238ENST00000509059NIPBLchr5

36958333

+SPEF2chr5

35753726

+
5UTR-3CDSENST00000282516ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000282516ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000282516ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000282516ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000282516ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000282516ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000282516ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000282516ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000448238ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000448238ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000448238ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000448238ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000448238ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000448238ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-3CDSENST00000448238ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-3CDSENST00000448238ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-intronENST00000282516ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000282516ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000282516ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000282516ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000282516ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-intronENST00000282516ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-intronENST00000282516ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000282516ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000282516ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000282516ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000282516ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000282516ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000282516ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000282516ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000282516ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000282516ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000282516ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000282516ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000282516ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000282516ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000282516ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000282516ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000448238ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000448238ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000448238ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000448238ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000448238ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35659121

+
5UTR-intronENST00000448238ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35628562

+
5UTR-intronENST00000448238ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000448238ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000448238ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000448238ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000448238ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000448238ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000448238ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000448238ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000448238ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000448238ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000448238ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000448238ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35806809

+
5UTR-intronENST00000448238ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35753726

+
5UTR-intronENST00000448238ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35800070

+
5UTR-intronENST00000448238ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35800069

+
5UTR-intronENST00000448238ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35806809

+
Frame-shiftENST00000282516ENST00000282469NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000282516ENST00000356031NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000282516ENST00000440995NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000282516ENST00000509059NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000448238ENST00000282469NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000448238ENST00000356031NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000448238ENST00000440995NIPBLchr5

37046301

+SPEF2chr5

35641533

+
Frame-shiftENST00000448238ENST00000509059NIPBLchr5

37046301

+SPEF2chr5

35641533

+
In-frameENST00000282516ENST00000282469NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000282516ENST00000356031NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000282516ENST00000440995NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000282516ENST00000509059NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000448238ENST00000282469NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000448238ENST00000356031NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000448238ENST00000440995NIPBLchr5

36976504

+SPEF2chr5

35628562

+
In-frameENST00000448238ENST00000509059NIPBLchr5

36976504

+SPEF2chr5

35628562

+
intron-3CDSENST00000504430ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35659121

+
intron-3CDSENST00000504430ENST00000282469NIPBLchr5

37046301

+SPEF2chr5

35641533

+
intron-3CDSENST00000504430ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35628562

+
intron-3CDSENST00000504430ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35659121

+
intron-3CDSENST00000504430ENST00000356031NIPBLchr5

37046301

+SPEF2chr5

35641533

+
intron-3CDSENST00000504430ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35628562

+
intron-3CDSENST00000504430ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35659121

+
intron-3CDSENST00000504430ENST00000440995NIPBLchr5

37046301

+SPEF2chr5

35641533

+
intron-3CDSENST00000504430ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35628562

+
intron-3CDSENST00000504430ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35659121

+
intron-3CDSENST00000504430ENST00000509059NIPBLchr5

37046301

+SPEF2chr5

35641533

+
intron-3CDSENST00000504430ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35628562

+
intron-intronENST00000504430ENST00000282469NIPBLchr5

36958333

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35800070

+
intron-intronENST00000504430ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35800069

+
intron-intronENST00000504430ENST00000282469NIPBLchr5

36877280

+SPEF2chr5

35806809

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35659121

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36958333

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

37046301

+SPEF2chr5

35641533

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35628562

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35800070

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35800069

+
intron-intronENST00000504430ENST00000303129NIPBLchr5

36877280

+SPEF2chr5

35806809

+
intron-intronENST00000504430ENST00000356031NIPBLchr5

36958333

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35800070

+
intron-intronENST00000504430ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35800069

+
intron-intronENST00000504430ENST00000356031NIPBLchr5

36877280

+SPEF2chr5

35806809

+
intron-intronENST00000504430ENST00000440995NIPBLchr5

36958333

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35800070

+
intron-intronENST00000504430ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35800069

+
intron-intronENST00000504430ENST00000440995NIPBLchr5

36877280

+SPEF2chr5

35806809

+
intron-intronENST00000504430ENST00000509059NIPBLchr5

36958333

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35753726

+
intron-intronENST00000504430ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35800070

+
intron-intronENST00000504430ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35800069

+
intron-intronENST00000504430ENST00000509059NIPBLchr5

36877280

+SPEF2chr5

35806809

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000282516NIPBLchr536976504+ENST00000282469SPEF2chr535628562+480819944993480993
ENST00000282516NIPBLchr536976504+ENST00000509059SPEF2chr535628562+6489199449947671422
ENST00000282516NIPBLchr536976504+ENST00000356031SPEF2chr535628562+7463199449974042301
ENST00000282516NIPBLchr536976504+ENST00000440995SPEF2chr535628562+7900199449973922297
ENST00000448238NIPBLchr536976504+ENST00000282469SPEF2chr535628562+477719634683449993
ENST00000448238NIPBLchr536976504+ENST00000509059SPEF2chr535628562+6458196346847361422
ENST00000448238NIPBLchr536976504+ENST00000356031SPEF2chr535628562+7432196346873732301
ENST00000448238NIPBLchr536976504+ENST00000440995SPEF2chr535628562+7869196346873612297

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000282516ENST00000282469NIPBLchr536976504+SPEF2chr535628562+0.0001803440.9998197
ENST00000282516ENST00000509059NIPBLchr536976504+SPEF2chr535628562+0.0006430030.99935704
ENST00000282516ENST00000356031NIPBLchr536976504+SPEF2chr535628562+0.0008073370.99919266
ENST00000282516ENST00000440995NIPBLchr536976504+SPEF2chr535628562+0.0009615340.99903846
ENST00000448238ENST00000282469NIPBLchr536976504+SPEF2chr535628562+0.000179740.9998203
ENST00000448238ENST00000509059NIPBLchr536976504+SPEF2chr535628562+0.0006402580.9993598
ENST00000448238ENST00000356031NIPBLchr536976504+SPEF2chr535628562+0.0008064830.9991935
ENST00000448238ENST00000440995NIPBLchr536976504+SPEF2chr535628562+0.0009580270.999042

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Fusion Genomic Features for NIPBL-SPEF2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
NIPBLchr537046301+SPEF2chr535641532+0.0007238820.9992761
NIPBLchr536877280+SPEF2chr535628561+0.0003168240.99968314
NIPBLchr536976504+SPEF2chr535628561+0.0001575860.9998424
NIPBLchr536877280+SPEF2chr535800069+2.11E-050.9999789
NIPBLchr536877280+SPEF2chr535800069+2.11E-050.9999789
NIPBLchr536877280+SPEF2chr535659120+1.21E-050.99998784
NIPBLchr536958333+SPEF2chr535753725+1.18E-060.9999988
NIPBLchr536958333+SPEF2chr535753725+1.18E-060.9999988
NIPBLchr536877280+SPEF2chr535753725+4.55E-081
NIPBLchr536877280+SPEF2chr535806808+9.73E-091
NIPBLchr537046301+SPEF2chr535641532+0.0007238820.9992761
NIPBLchr536877280+SPEF2chr535628561+0.0003168240.99968314
NIPBLchr536976504+SPEF2chr535628561+0.0001575860.9998424
NIPBLchr536877280+SPEF2chr535800069+2.11E-050.9999789
NIPBLchr536877280+SPEF2chr535800069+2.11E-050.9999789
NIPBLchr536877280+SPEF2chr535659120+1.21E-050.99998784
NIPBLchr536958333+SPEF2chr535753725+1.18E-060.9999988
NIPBLchr536958333+SPEF2chr535753725+1.18E-060.9999988
NIPBLchr536877280+SPEF2chr535753725+4.55E-081
NIPBLchr536877280+SPEF2chr535806808+9.73E-091

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for NIPBL-SPEF2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:36958333/chr5:35753726)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NIPBL

Q6KC79

.
FUNCTION: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+947418_4624982805.0Compositional biasNote=Gln-rich
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+946418_4624982698.0Compositional biasNote=Gln-rich
TgeneSPEF2chr5:36976504chr5:35628562ENST000002824690101686_171219515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000282469010227_26019515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000282469010321_39619515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000282469010732_75819515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000282469010871_90919515.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST000003031290131686_17120620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000303129013227_2600620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000303129013321_3960620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000303129013732_7580620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000303129013871_9090620.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST000003560310371686_1712191823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000356031037227_260191823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000356031037321_396191823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000356031037732_758191823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000356031037871_909191823.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST000004409950371686_1712191819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000440995037227_260191819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000440995037321_396191819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000440995037732_758191819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST00000440995037871_909191819.0Coiled coilOntology_term=ECO:0000255
TgeneSPEF2chr5:36976504chr5:35628562ENST000003031290131_1050620.0DomainCalponin-homology (CH)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+947996_10094982805.0MotifPxVxL motif
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+946996_10094982698.0MotifPxVxL motif
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+9471767_18054982805.0RepeatNote=HEAT 1
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+9471843_18814982805.0RepeatNote=HEAT 2
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+9471945_19844982805.0RepeatNote=HEAT 3
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+9472227_22674982805.0RepeatNote=HEAT 4
HgeneNIPBLchr5:36976504chr5:35628562ENST00000282516+9472313_23514982805.0RepeatNote=HEAT 5
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+9461767_18054982698.0RepeatNote=HEAT 1
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+9461843_18814982698.0RepeatNote=HEAT 2
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+9461945_19844982698.0RepeatNote=HEAT 3
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+9462227_22674982698.0RepeatNote=HEAT 4
HgeneNIPBLchr5:36976504chr5:35628562ENST00000448238+9462313_23514982698.0RepeatNote=HEAT 5
TgeneSPEF2chr5:36976504chr5:35628562ENST000002824690101_10519515.0DomainCalponin-homology (CH)
TgeneSPEF2chr5:36976504chr5:35628562ENST000003560310371_105191823.0DomainCalponin-homology (CH)
TgeneSPEF2chr5:36976504chr5:35628562ENST000004409950371_105191819.0DomainCalponin-homology (CH)


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Fusion Gene Sequence for NIPBL-SPEF2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>59213_59213_1_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000282469_length(transcript)=4808nt_BP=1994nt
TCCGGTCGGCATTTTGTTCTGAGAGGGAGAGACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTC
CGTCGGTACCGACTCACCCGACACCACCAAGCCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCC
CCCCCGGTAGCTCGGGCCCGTGGTCGGGTGTTTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGT
CTTCTCGGCTGGTCTCCCCCCGGCTCTACATGTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGAT
TATAGTCTCTCGCCACAGCGGCCTCGGCCTCCCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTG
GCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGC
GGGGATTGCTAGTCTCACAGACCTCCTGAACCAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGC
ACGAATAGCAGAAGAGGTGAACTGCCTTTTGGCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAAC
AGATCACATAGAGTTGAAAGATAACCTTGGCAGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCC
TAATGTTTTCAGGGAGAAAAGCATGCAGAACAGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCA
CAGTAGTCCTGCATCTTCCAATTATCAACAAACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAA
CAGATTTATGCCACAGCAAAATAGCCCAGTGCCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAG
TTACACAACACATCCACAGATGCAACAAGCATCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTC
TGGTCCGTTGTCTGGCAATTCAGCTAATCATCATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCT
AAGTAGTGACGATGGAGATTCTTCAACAATGAGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAG
TGAAGGAACTCCTAAAGGCTCAAGACCACCTTTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATAT
CTTGCTAGATTCTCCAGAAAGAAAACAAAAGAAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAAT
GTATGATATAATTAGTTCTCCATCCAAGGACTCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGA
GGATATGATTTCTGGTGTGGAAAATAGCAATGTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACC
CATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGT
GCCTGTTTTACAACAGAACACTTCAGTTGCTGCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACC
TATATATGATGAAGTGGAATTGGATGCATTGGCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGA
AGTTCAAGATAAAGGTCCCAAGTCATTTGCAAAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGA
TGATTTTTCAGAATTTTTGGACAGCAGGGTTTCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGT
GCAGTTTGATCAGAATGTGGCCCATGGCATCATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCA
GAAAAAGAAGAAAAGTGGACTGACTGGAGTGGAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATAC
TTTTCAAGAGAGACTTAGACACATGATACCACGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACA
CGTGAAAGAAGATCTTGCCCATTTGCATTTTGAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAA
GCAATACTTAAACAGAAGACGACAAAATGAAATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTAC
TTTGAAAGCACTCGAGGCCCAAAAAATGATGAAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAAT
AAAAAAGGATCTCCAAGCAAAAGAAAGTGCATCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTC
AGATGACGAGTACATTAAAAAAATCCAGAAGCGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTT
AATGGACCAGTTAATAGCCCACGAAGCACAAGAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGA
GCGCAGGATTGCCGTGCAGCTCATGCATGTTCGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGA
AAGACGACTTAAAGATTTCCAGGATGCTCTTGATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAA
AGAAAAGAGATTTCATGATCAGATTGCTGTGGAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCA
AATAGTTGATTTGTCCACTAAAGTGGCAGACTATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACT
ATTTTTTAATGCAAAACCCATATATGAACAAGCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAA
AAGGGACTTGCTAGATACCAATGATTATGAAGAATATAAGGTACCTACTGATATGAAATAATTAGAATGCTACATAATAAATCCTTTTTC
TTTAACATTAATTTTGTGATATTCCTTATTTCATTTCTACTAATAAAAATAGACATGTTTTGTTTGCATTTTCCCTTGTTTTAATTTGTA
TGTTTGTACTACTTTTTAGATGCTTAAACTATACATAAGCTATTATCTATTGTTCCTAGTAATCTTAGGGGAGTGGTCTGAAAAAACATC
AAGCATAGTAATTGTCTGGGTAGACAGATTTCAGAATTTTTAAAATGCTTTAATTTATTTATTAGCATTTTTCTTTGTATGGGCTGTGTA
CTTTTGCTTCAAAAACCATTGTTAAAAAGTATTTCTTTTGTAATCAATCTAAATAATAGACTTTTTTTACAGGCAAAATGAAAGAGGAGG
AAGTCTGGGTTTTATGAATAGCATAGATTCAAACAATCTTTTATTCAAAGATTGAAATAAAAAGTATCGGGTGCCAACTGTGATTTTTAG
AAGAACTGTTGTAAAGCCTTTGAGATTAGACAGACTAGAGCTACATTACTGAAATTGCCAACTACTAACTGTGTGACCTTAGGTGACCAG
TTCATTAAGGGCTAATAGATTTCCATTTTTCAATTAATGGAAAGGGAATGCTACTATACCTACTTCATTTAAAATAACATGAGTTAAACA
CTTAGCTGAGTGCACTTCATGTTGGATGCATATAATACATATCCATTTCTTTCCTCACCATCCTACTCTCCCCATCCCACTCCATCTCAC
CCTTAGAAGTAAAGGTGTAACAATCATAGCTTTTGGATAGAAATTTTGAGTGGATCAACAGCAATGGAATGAGGAGTGAGGCTTTTTATT
AGAAAAATTACAAAATGAGTCCCGGAAGGTCAGTAAGTGCAACATGAAAAAAATCTATGAAAAGATTATTTGACCTAATTATTCACTGAT
AGTACATACTCAACAAAGGTTTGTGGGACAAAGGGTGAATAAAATGAATGAATTACAATGAACAAAGAAAAGTGCAAAATAACACTAACA
AGTAAATATTACAAGAAGATAACCTTGTGGTTAAAAGATAAGGAAAAATATGAGATTATGAGAAATTAAATGTATACTATATTTTAATTA
AATGAATCTGTATTTGTAGCACTAAGAGAATTATTATTAAGGATTGACTAGAACCTTAAAAGATATATGTGGATGTTTGTTTTGTACGGT
TGTAAAATATACTAGACCTATTACATCCACCTAAAGTATAATGCCATGTAAGAAAATGCTTTGACAGTATCAACCTGTGTTAAGGTATTT

>59213_59213_1_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000282469_length(amino acids)=993AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKVPT

--------------------------------------------------------------
>59213_59213_2_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000356031_length(transcript)=7463nt_BP=1994nt
TCCGGTCGGCATTTTGTTCTGAGAGGGAGAGACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTC
CGTCGGTACCGACTCACCCGACACCACCAAGCCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCC
CCCCCGGTAGCTCGGGCCCGTGGTCGGGTGTTTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGT
CTTCTCGGCTGGTCTCCCCCCGGCTCTACATGTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGAT
TATAGTCTCTCGCCACAGCGGCCTCGGCCTCCCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTG
GCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGC
GGGGATTGCTAGTCTCACAGACCTCCTGAACCAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGC
ACGAATAGCAGAAGAGGTGAACTGCCTTTTGGCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAAC
AGATCACATAGAGTTGAAAGATAACCTTGGCAGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCC
TAATGTTTTCAGGGAGAAAAGCATGCAGAACAGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCA
CAGTAGTCCTGCATCTTCCAATTATCAACAAACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAA
CAGATTTATGCCACAGCAAAATAGCCCAGTGCCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAG
TTACACAACACATCCACAGATGCAACAAGCATCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTC
TGGTCCGTTGTCTGGCAATTCAGCTAATCATCATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCT
AAGTAGTGACGATGGAGATTCTTCAACAATGAGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAG
TGAAGGAACTCCTAAAGGCTCAAGACCACCTTTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATAT
CTTGCTAGATTCTCCAGAAAGAAAACAAAAGAAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAAT
GTATGATATAATTAGTTCTCCATCCAAGGACTCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGA
GGATATGATTTCTGGTGTGGAAAATAGCAATGTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACC
CATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGT
GCCTGTTTTACAACAGAACACTTCAGTTGCTGCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACC
TATATATGATGAAGTGGAATTGGATGCATTGGCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGA
AGTTCAAGATAAAGGTCCCAAGTCATTTGCAAAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGA
TGATTTTTCAGAATTTTTGGACAGCAGGGTTTCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGT
GCAGTTTGATCAGAATGTGGCCCATGGCATCATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCA
GAAAAAGAAGAAAAGTGGACTGACTGGAGTGGAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATAC
TTTTCAAGAGAGACTTAGACACATGATACCACGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACA
CGTGAAAGAAGATCTTGCCCATTTGCATTTTGAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAA
GCAATACTTAAACAGAAGACGACAAAATGAAATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTAC
TTTGAAAGCACTCGAGGCCCAAAAAATGATGAAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAAT
AAAAAAGGATCTCCAAGCAAAAGAAAGTGCATCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTC
AGATGACGAGTACATTAAAAAAATCCAGAAGCGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTT
AATGGACCAGTTAATAGCCCACGAAGCACAAGAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGA
GCGCAGGATTGCCGTGCAGCTCATGCATGTTCGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGA
AAGACGACTTAAAGATTTCCAGGATGCTCTTGATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAA
AGAAAAGAGATTTCATGATCAGATTGCTGTGGAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCA
AATAGTTGATTTGTCCACTAAAGTGGCAGACTATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACT
ATTTTTTAATGCAAAACCCATATATGAACAAGCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAA
AAGGGACTTGCTAGATACCAATGATTATGAAGAATATAAGAACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATGGTTGACAATTTACC
ACCCTCCAACAATTGCATACTGGGCCATATTCTTCACAGGCTAGCTGAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATT
ACCTTCATTTGCTGTTAAAGGATGCTTATTGGGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAAAAAGACTTTCCTAT
ACAGATACTTTCTATTGACACTCTTGTCCAAGAAGCTATCCAAGCATTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAA
AAATGATGAAGAAGATGCTCTACCAGTTCTGCAAGAGGAGATTAAAGAAAGCCAGGATCCACAACATGTATTTTCAGCTGGTCCAGTTTC
AGATGAAGTATTACCAGAAACAGAAGGTGAAACAATGCTTAGTGCTAATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGA
TAGTTTCTTAAAACTCACTACACGTGCTCAGCTTGGTGCAAAATCAGAACAGTTGCTGAAGAAAGGAAAGAGCATTCCTGATGTGCTGCT
TGTTGACATCATAGTAAATGCTATTAATGAGATACCTGTGAATCAAGACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACA
GCTTCTGGAAGAAGCTCTTACAGGCTGCAATAGAAACCTCACAGAAGTGGAAAGAAAAAAAGCACAAAAATCCACATTGGCTATTGATCC
TGCGACTTCCAAAGAAATACCTCTTCCCTCTCCTGCATTTGATTTTGTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCAT
GAATGATATTATAGCTGAAGAATTGTCCTATAAAACTGCTCACGAAGATATCAGTCAACGTGTAGCTGCTGAAAACCAAGATAAGGATGG
AGACCAAAATTTAAGAGACCAGATACAACATAGAATTATAGGCTTCTTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGA
AAATATTTTGATAAAAATCAATGCTGAAATAGATAAGGAATCTTTATGTGAAAAAGTAAAAGAAATTCTTACGACTGAAATAGCAAAAAA
AAAGAATAAAGTTGAGAAGAAATTAGAAGAAAAGGAAGCTGAGAAAAAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCC
TCCTGCTCCTCCTCCTGAACCAGAAAAAGAGAAGGAAATTCATCAAAGCCATGTGGCTTCAAAAACTCCTACTGCAAAAGGAAAACCTCA
ATCAGAAGCCCCGCATGGTAAGCAAGAATCTCTTCAGGAAGGAAAAGGGAAGAAAGGTGAGACCGCACTCAAAAGAAAAGGTTCTCCTAA
AGGAAAATCATCAGGAGGAAAAGTACCAGTAAAGAAATCACCTGCTGACTCTACAGATACATCACCTGTTGCAATAGTGCCACAGCCACC
TAAGCCAGGATCAGAAGAATGGGTCTATGTGAATGAACCAGTTCCTGAGGAAATGCCTTTGTTTTTAGTACCTTACTGGGAACTAATAGA
AAATTCCTATATAAACACCATCAAAACAGTACTCAGGCATCTGAGGGAAGACCAGCATACTGTGCTTGCTTACTTATATGAGATTAGAAC
AAGTTTCCAGGAGTTTCTAAAGCGTCCGGATCACAAGCAAGATTTTGTAGCTCAATGGCAGGCTGATTTCAACTCCCTTCCTGATGACCT
GTGGGATGATGAGGAAACAAAGGCTGAACTACATCAACGAGTGAATGATCTGCGAGACCGCCTGTGGGACATTTGTGATGCCCGGAAGGA
AGAGGCGGAGCAGGAGCGGCTTGACATCATTAATGAGAGCTGGTTACAGGACACTCTTGGAATGACAATGAACCATTTCTTTTCCCTGAT
GCAGGCAGAGCTGAACCGTTTCCAAGATACAAAGAGACTCCTTCAAGATTATTACTGGGGAATGGAAAGTAAAATCCCAGTAGAGGACAA
CAAGAGATTTACTCGAATCCCTTTGGTCCAACTGGATAGTAAAGACAATTCTGAAAGCCAGCTTAGAATTCCTCTAGTTCCTCGAATATC
CATTTCTCTGGAAACAGTTACACCCAAACCAAAAACAAAATCAGTACTGAAGGGCAAGATGGATAACTCCCTAGAAAACGTTGAGTCCAA
CTTTGAGGCCGATGAAAAGTTGGTCATGGACACCTGGCAGCAGGCTTCTTTAGCAGTATCTCACATGGTGGCTGCTGAAATTCATCAGAG
GCTTATGGAAGAAGAAAAAGAAAACCAGCCAGCAGACCCCAAAGAAAAATCTCCTCAGATGGGTGCAAATAAAAAAGTCAAAAAGGAGCC
ACCCAAGAAAAAACAGGAAGACAAAAAACCCAAAGGTAAATCACCACCTATGGCAGAAGCAACTCCTGTCATAGTAACAACAGAGGAAAT
TGCTGAAATCAAAAGGAAAAATGAACTGAGGGTCAAAATAAAAGAAGAACACCTTGCTGCCTTGCAATTTGAAGAAATAGCCACGCAATT
TCGACTTGAACTGATAAAGACAAAAGCATTGGCTCTTCTTGAAGATTTAGTAACAAAGGTGGTTGATGTATATAAACTCATGGAAAAATG
GCTTGGTGAGAGGTATTTGAATGAAATGGCCAGTACAGAAAAATTAACTGACGTAGCTCGCTATCACATTGAAACATCTACAAAAATTCA
GAATGAACTTTATTTAAGCCAAGAAGACTTCTTCATTAATGGCAATATAAAAGTCTTCCCAGATCCTCCCCCATCAATACGTCCTCCACC
TGTAGAAAAGGAAGAAGATGGTACCCTGACCATTGAACAGCTTGACAGTCTTCGAGATCAGTTCTTAGATATGGCACCTAAAGGCATAAT
AGGAAATAAAGCATTTACTGACATTCTGATCGATTTGGTGACCCTGAACCTTGGCACAAACAACTTTCCTAGTAATTGGATGCACCTTAC
CCAACCTGAATTACAGGAATTAACATCTTTATTAACAGTCAACTCCGAGTTCGTGGACTGGCGGAAGTTCCTGTTAGTAACCTCAATGCC
TTGGCCCATTCCCTTGGAGGAGGAGCTCCTTGAGACCCTTCAGAAGTTCAAGGCTGTGGATAAGGAGCAGTTGGGCACCATCACTTTTGA
GCAGTATATGCAGGCTGGTCTGTGGTTTACAGGAGATGAAGATATAAAAATTCCAGAAAATCCTCTTGAACCCCTTCCATTTAATAGGCA
GGAGCATCTTATAGAGTTTTTCTTTAGGCTATTTGCTGACTATGAGAAGGATCCACCCCAGCTTGACTACACACAGATGCTGCTTTACTT
TGCTTGCCACCCAGACACCGTGGAAGGAGTCTACAGGGCCCTCAGTGTGGCTGTTGGAACTCATGTCTTCCAACAAGTCAAAGCTTCCAT
TCCAAGTGCAGAAAAGACCTCCTCAACTGATGCAGGTCCAGCTGAGGAATTTCCTGAACCTGAGGAAAATGCTGCAAGAGAAGAAAGGAA
ATTAAAAGACGACACGGAGAAAAGGGAACAGAAGGATGAAGAAATCCCTGAAAATGCAAACAATGAAAAGATGTCCATGGAAACACTACT
CAAAGTGTTCAAAGGGGGAAGTGAAGCACAGGACTCCAATAGATTTGCCAGCCACCTAAAGATAGAGAACATTTATGCAGAGGGCTTCAT
AAAAACATTTCAAGACCTAGGTGCCAAGAACCTGGAGCCAATTGAAGTCGCTGTTCTCTTGAAGCATCCTTTTATTCAAGACCTGATTTC
AAATTATTCAGACTATAAGTTTCCTGATATTAAAATAATTCTCCAAAGGAGTGAACATGTACAAGGAAGTGATGGAGAGAGATCACCTTC

>59213_59213_2_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000356031_length(amino acids)=2301AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMV
GEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAF
HDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGETMLSANADKTPKAEEVKSSDSFLKLTTRAQLGAKSE
QLLKKGKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFV
ILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLC
EKVKEILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKG
KKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLRE
DQHTVLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQ
DTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVL
KGKMDNSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPP
MAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLT
DVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLN
LGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIK
IPENPLEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEE
FPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEV

--------------------------------------------------------------
>59213_59213_3_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000440995_length(transcript)=7900nt_BP=1994nt
TCCGGTCGGCATTTTGTTCTGAGAGGGAGAGACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTC
CGTCGGTACCGACTCACCCGACACCACCAAGCCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCC
CCCCCGGTAGCTCGGGCCCGTGGTCGGGTGTTTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGT
CTTCTCGGCTGGTCTCCCCCCGGCTCTACATGTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGAT
TATAGTCTCTCGCCACAGCGGCCTCGGCCTCCCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTG
GCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGC
GGGGATTGCTAGTCTCACAGACCTCCTGAACCAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGC
ACGAATAGCAGAAGAGGTGAACTGCCTTTTGGCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAAC
AGATCACATAGAGTTGAAAGATAACCTTGGCAGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCC
TAATGTTTTCAGGGAGAAAAGCATGCAGAACAGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCA
CAGTAGTCCTGCATCTTCCAATTATCAACAAACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAA
CAGATTTATGCCACAGCAAAATAGCCCAGTGCCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAG
TTACACAACACATCCACAGATGCAACAAGCATCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTC
TGGTCCGTTGTCTGGCAATTCAGCTAATCATCATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCT
AAGTAGTGACGATGGAGATTCTTCAACAATGAGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAG
TGAAGGAACTCCTAAAGGCTCAAGACCACCTTTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATAT
CTTGCTAGATTCTCCAGAAAGAAAACAAAAGAAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAAT
GTATGATATAATTAGTTCTCCATCCAAGGACTCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGA
GGATATGATTTCTGGTGTGGAAAATAGCAATGTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACC
CATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGT
GCCTGTTTTACAACAGAACACTTCAGTTGCTGCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACC
TATATATGATGAAGTGGAATTGGATGCATTGGCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGA
AGTTCAAGATAAAGGTCCCAAGTCATTTGCAAAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGA
TGATTTTTCAGAATTTTTGGACAGCAGGGTTTCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGT
GCAGTTTGATCAGAATGTGGCCCATGGCATCATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCA
GAAAAAGAAGAAAAGTGGACTGACTGGAGTGGAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATAC
TTTTCAAGAGAGACTTAGACACATGATACCACGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACA
CGTGAAAGAAGATCTTGCCCATTTGCATTTTGAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAA
GCAATACTTAAACAGAAGACGACAAAATGAAATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTAC
TTTGAAAGCACTCGAGGCCCAAAAAATGATGAAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAAT
AAAAAAGGATCTCCAAGCAAAAGAAAGTGCATCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTC
AGATGACGAGTACATTAAAAAAATCCAGAAGCGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTT
AATGGACCAGTTAATAGCCCACGAAGCACAAGAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGA
GCGCAGGATTGCCGTGCAGCTCATGCATGTTCGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGA
AAGACGACTTAAAGATTTCCAGGATGCTCTTGATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAA
AGAAAAGAGATTTCATGATCAGATTGCTGTGGAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCA
AATAGTTGATTTGTCCACTAAAGTGGCAGACTATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACT
ATTTTTTAATGCAAAACCCATATATGAACAAGCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAA
AAGGGACTTGCTAGATACCAATGATTATGAAGAATATAAGAACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATGGTTGACAATTTACC
ACCCTCCAACAATTGCATACTGGGCCATATTCTTCACAGGCTAGCTGAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATT
ACCTTCATTTGCTGTTAAAGGATGCTTATTGGGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAAAAAGACTTTCCTAT
ACAGATACTTTCTATTGACACTCTTGTCCAAGAAGCTATCCAAGCATTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAA
AAATGATGAAGAAGATGCTCTACCAGTTCTGCAAGAGGAGATTAAAGAAAGCCAGGATCCACAACATGTATTTTCAGCTGGTCCAGTTTC
AGATGAAGTATTACCAGAAACAGAAGGTGCTAATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGATAGTTTCTTAAAACT
CACTACACGTGCTCAGCTTGGTGCAAAATCAGAACAGTTGCTGAAGAAAGGAAAGAGCATTCCTGATGTGCTGCTTGTTGACATCATAGT
AAATGCTATTAATGAGATACCTGTGAATCAAGACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACAGCTTCTGGAAGAAGC
TCTTACAGGCTGCAATAGAAACCTCACAGAAGTGGAAAGAAAAAAAGCACAAAAATCCACATTGGCTATTGATCCTGCGACTTCCAAAGA
AATACCTCTTCCCTCTCCTGCATTTGATTTTGTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCATGAATGATATTATAGC
TGAAGAATTGTCCTATAAAACTGCTCACGAAGATATCAGTCAACGTGTAGCTGCTGAAAACCAAGATAAGGATGGAGACCAAAATTTAAG
AGACCAGATACAACATAGAATTATAGGCTTCTTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGAAAATATTTTGATAAA
AATCAATGCTGAAATAGATAAGGAATCTTTATGTGAAAAAGTAAAAGAAATTCTTACGACTGAAATAGCAAAAAAAAAGAATAAAGTTGA
GAAGAAATTAGAAGAAAAGGAAGCTGAGAAAAAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCCTCCTGCTCCTCCTCC
TGAACCAGAAAAAGAGAAGGAAATTCATCAAAGCCATGTGGCTTCAAAAACTCCTACTGCAAAAGGAAAACCTCAATCAGAAGCCCCGCA
TGGTAAGCAAGAATCTCTTCAGGAAGGAAAAGGGAAGAAAGGTGAGACCGCACTCAAAAGAAAAGGTTCTCCTAAAGGAAAATCATCAGG
AGGAAAAGTACCAGTAAAGAAATCACCTGCTGACTCTACAGATACATCACCTGTTGCAATAGTGCCACAGCCACCTAAGCCAGGATCAGA
AGAATGGGTCTATGTGAATGAACCAGTTCCTGAGGAAATGCCTTTGTTTTTAGTACCTTACTGGGAACTAATAGAAAATTCCTATATAAA
CACCATCAAAACAGTACTCAGGCATCTGAGGGAAGACCAGCATACTGTGCTTGCTTACTTATATGAGATTAGAACAAGTTTCCAGGAGTT
TCTAAAGCGTCCGGATCACAAGCAAGATTTTGTAGCTCAATGGCAGGCTGATTTCAACTCCCTTCCTGATGACCTGTGGGATGATGAGGA
AACAAAGGCTGAACTACATCAACGAGTGAATGATCTGCGAGACCGCCTGTGGGACATTTGTGATGCCCGGAAGGAAGAGGCGGAGCAGGA
GCGGCTTGACATCATTAATGAGAGCTGGTTACAGGACACTCTTGGAATGACAATGAACCATTTCTTTTCCCTGATGCAGGCAGAGCTGAA
CCGTTTCCAAGATACAAAGAGACTCCTTCAAGATTATTACTGGGGAATGGAAAGTAAAATCCCAGTAGAGGACAACAAGAGATTTACTCG
AATCCCTTTGGTCCAACTGGATAGTAAAGACAATTCTGAAAGCCAGCTTAGAATTCCTCTAGTTCCTCGAATATCCATTTCTCTGGAAAC
AGTTACACCCAAACCAAAAACAAAATCAGTACTGAAGGGCAAGATGGATAACTCCCTAGAAAACGTTGAGTCCAACTTTGAGGCCGATGA
AAAGTTGGTCATGGACACCTGGCAGCAGGCTTCTTTAGCAGTATCTCACATGGTGGCTGCTGAAATTCATCAGAGGCTTATGGAAGAAGA
AAAAGAAAACCAGCCAGCAGACCCCAAAGAAAAATCTCCTCAGATGGGTGCAAATAAAAAAGTCAAAAAGGAGCCACCCAAGAAAAAACA
GGAAGACAAAAAACCCAAAGGTAAATCACCACCTATGGCAGAAGCAACTCCTGTCATAGTAACAACAGAGGAAATTGCTGAAATCAAAAG
GAAAAATGAACTGAGGGTCAAAATAAAAGAAGAACACCTTGCTGCCTTGCAATTTGAAGAAATAGCCACGCAATTTCGACTTGAACTGAT
AAAGACAAAAGCATTGGCTCTTCTTGAAGATTTAGTAACAAAGGTGGTTGATGTATATAAACTCATGGAAAAATGGCTTGGTGAGAGGTA
TTTGAATGAAATGGCCAGTACAGAAAAATTAACTGACGTAGCTCGCTATCACATTGAAACATCTACAAAAATTCAGAATGAACTTTATTT
AAGCCAAGAAGACTTCTTCATTAATGGCAATATAAAAGTCTTCCCAGATCCTCCCCCATCAATACGTCCTCCACCTGTAGAAAAGGAAGA
AGATGGTACCCTGACCATTGAACAGCTTGACAGTCTTCGAGATCAGTTCTTAGATATGGCACCTAAAGGCATAATAGGAAATAAAGCATT
TACTGACATTCTGATCGATTTGGTGACCCTGAACCTTGGCACAAACAACTTTCCTAGTAATTGGATGCACCTTACCCAACCTGAATTACA
GGAATTAACATCTTTATTAACAGTCAACTCCGAGTTCGTGGACTGGCGGAAGTTCCTGTTAGTAACCTCAATGCCTTGGCCCATTCCCTT
GGAGGAGGAGCTCCTTGAGACCCTTCAGAAGTTCAAGGCTGTGGATAAGGAGCAGTTGGGCACCATCACTTTTGAGCAGTATATGCAGGC
TGGTCTGTGGTTTACAGGAGATGAAGATATAAAAATTCCAGAAAATCCTCTTGAACCCCTTCCATTTAATAGGCAGGAGCATCTTATAGA
GTTTTTCTTTAGGCTATTTGCTGACTATGAGAAGGATCCACCCCAGCTTGACTACACACAGATGCTGCTTTACTTTGCTTGCCACCCAGA
CACCGTGGAAGGAGTCTACAGGGCCCTCAGTGTGGCTGTTGGAACTCATGTCTTCCAACAAGTCAAAGCTTCCATTCCAAGTGCAGAAAA
GACCTCCTCAACTGATGCAGGTCCAGCTGAGGAATTTCCTGAACCTGAGGAAAATGCTGCAAGAGAAGAAAGGAAATTAAAAGACGACAC
GGAGAAAAGGGAACAGAAGGATGAAGAAATCCCTGAAAATGCAAACAATGAAAAGATGTCCATGGAAACACTACTCAAAGTGTTCAAAGG
GGGAAGTGAAGCACAGGACTCCAATAGATTTGCCAGCCACCTAAAGATAGAGAACATTTATGCAGAGGGCTTCATAAAAACATTTCAAGA
CCTAGGTGCCAAGAACCTGGAGCCAATTGAAGTCGCTGTTCTCTTGAAGCATCCTTTTATTCAAGACCTGATTTCAAATTATTCAGACTA
TAAGTTTCCTGTACACATCATCTATGTAGTGGAAATGATAGTGTGTGCAAAAGGTTGGGCACCACTTCCATCAGGAAAACAGTGTGCAAG
ATGGAGAAACTAAGGACAAACCCCAGAGAAACTGGACAAACCCAGCAGAAGAAAGGAAGAACTGCAACTCAGAAATCACATAACCACCAA
GCAGGTCTGGACCACACATGCTAAATGTGCATCCACTATGGCGAGTCCCAGGCCTTTAACAGCAGGGACTAAGGAGGGCAGAGGCTGACA
CCAACCCCCTTTCATACTGTAGCACTACATCCCTCTCAGATACCAGTTTAACACGAAGTCTCCCTGTTTGACTCCTGTGAGTTGTGTATT
GAACTACAAAGTGTTTGCTGAGTTGAAAATAAAAGCGCTTTCACTTTGATAGAATGTAGATTGTGTATCTTGACTTCTCAATGATAGCAA
GTTACATTTTGCAGTTTTCTTCCTATACCCACAAATGAAACTATTCAGACTTAAATATCTTCCTGTGTGCCTAAACGTTTTTGTTCTAAG

>59213_59213_3_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000440995_length(amino acids)=2297AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMV
GEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAF
HDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKK
GKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDV
SDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKE
ILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKGKKGET
ALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTV
LAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQDTLGM
TMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMD
NSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPPMAEAT
PVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARY
HIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLNLGTNN
FPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENP
LEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEEFPEPE
ENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLK

--------------------------------------------------------------
>59213_59213_4_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000509059_length(transcript)=6489nt_BP=1994nt
TCCGGTCGGCATTTTGTTCTGAGAGGGAGAGACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTC
CGTCGGTACCGACTCACCCGACACCACCAAGCCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCC
CCCCCGGTAGCTCGGGCCCGTGGTCGGGTGTTTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGT
CTTCTCGGCTGGTCTCCCCCCGGCTCTACATGTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGAT
TATAGTCTCTCGCCACAGCGGCCTCGGCCTCCCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTG
GCACCTGAACTAAGTACTTTTATAGGCAACACCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGC
GGGGATTGCTAGTCTCACAGACCTCCTGAACCAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGC
ACGAATAGCAGAAGAGGTGAACTGCCTTTTGGCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAAC
AGATCACATAGAGTTGAAAGATAACCTTGGCAGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCC
TAATGTTTTCAGGGAGAAAAGCATGCAGAACAGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCA
CAGTAGTCCTGCATCTTCCAATTATCAACAAACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAA
CAGATTTATGCCACAGCAAAATAGCCCAGTGCCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAG
TTACACAACACATCCACAGATGCAACAAGCATCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTC
TGGTCCGTTGTCTGGCAATTCAGCTAATCATCATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCT
AAGTAGTGACGATGGAGATTCTTCAACAATGAGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAG
TGAAGGAACTCCTAAAGGCTCAAGACCACCTTTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATAT
CTTGCTAGATTCTCCAGAAAGAAAACAAAAGAAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAAT
GTATGATATAATTAGTTCTCCATCCAAGGACTCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGA
GGATATGATTTCTGGTGTGGAAAATAGCAATGTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACC
CATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGT
GCCTGTTTTACAACAGAACACTTCAGTTGCTGCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACC
TATATATGATGAAGTGGAATTGGATGCATTGGCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGA
AGTTCAAGATAAAGGTCCCAAGTCATTTGCAAAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGA
TGATTTTTCAGAATTTTTGGACAGCAGGGTTTCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGT
GCAGTTTGATCAGAATGTGGCCCATGGCATCATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCA
GAAAAAGAAGAAAAGTGGACTGACTGGAGTGGAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATAC
TTTTCAAGAGAGACTTAGACACATGATACCACGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACA
CGTGAAAGAAGATCTTGCCCATTTGCATTTTGAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAA
GCAATACTTAAACAGAAGACGACAAAATGAAATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTAC
TTTGAAAGCACTCGAGGCCCAAAAAATGATGAAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAAT
AAAAAAGGATCTCCAAGCAAAAGAAAGTGCATCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTC
AGATGACGAGTACATTAAAAAAATCCAGAAGCGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTT
AATGGACCAGTTAATAGCCCACGAAGCACAAGAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGA
GCGCAGGATTGCCGTGCAGCTCATGCATGTTCGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGA
AAGACGACTTAAAGATTTCCAGGATGCTCTTGATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAA
AGAAAAGAGATTTCATGATCAGATTGCTGTGGAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCA
AATAGTTGATTTGTCCACTAAAGTGGCAGACTATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACT
ATTTTTTAATGCAAAACCCATATATGAACAAGCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAA
AAGGGACTTGCTAGATACCAATGATTATGAAGAATATAAGAACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATGGTTGACAATTTACC
ACCCTCCAACAATTGCATACTGGGCCATATTCTTCACAGGCTAGCTGAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATT
ACCTTCATTTGCTGTTAAAGGATGCTTATTGGGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAAAAAGACTTTCCTAT
ACAGATACTTTCTATTGACACTCTTGTCCAAGAAGCTATCCAAGCATTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAA
AAATGATGAAGAAGATGCTCTACCAGTTCTGCAAGAGGAGATTAAAGAAAGCCAGGATCCACAACATGTATTTTCAGCTGGTCCAGTTTC
AGATGAAGTATTACCAGAAACAGAAGGTGCTAATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGATAGTTTCTTAAAACT
CACTACACGTGCTCAGCTTGGTGCAAAATCAGAACAGTTGCTGAAGAAAGGAAAGAGCATTCCTGATGTGCTGCTTGTTGACATCATAGT
AAATGCTATTAATGAGATACCTGTGAATCAAGACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACAGCTTCTGGAAGAAGC
TCTTACAGGCTGCAATAGAAACCTCACAGAAGTGGAAAGAAAAAAAGCACAAAAATCCACATTGGCTATTGATCCTGCGACTTCCAAAGA
AATACCTCTTCCCTCTCCTGCATTTGATTTTGTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCATGAATGATATTATAGC
TGAAGAATTGTCCTATAAAACTGCTCACGAAGATATCAGTCAACGTGTAGCTGCTGAAAACCAAGATAAGGATGGAGACCAAAATTTAAG
AGACCAGATACAACATAGAATTATAGGCTTCTTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGAAAATATTTTGATAAA
AATCAATGCTGAAATAGATAAGGAATCTTTATGTGAAAAAGTAAAAGAAATTCTTACGACTGAAATAGCAAAAAAAAAGAATAAAGTTGA
GAAGAAATTAGAAGAAAAGGAAGCTGAGAAAAAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCCTCCTGCTCCTCCTCC
TGAACCAGAAAAAGAGAAGGAAATTCATCAAAGCCATGTGGCTTCAAAAACTCCTACTGCAAAAGGAAAACCTCAATCAGGTGATTGACA
GAATGATTTATAATCCTGTTTTCAGTTTCTTATTTTTACTCAGTAAAGAATTATAAATTATAGTCTATCTACATTCAGACTTTGGGCAAC
TTCAATCATATGAAACAAGGCTTTACACTCAGATGGAAGTGGAAAAGCCCTCGGAGTAGCTAAAAGCGTAGTTGTTACAAAGCCCAACTT
CTTTGCCATGTAGGAGGAGACATGGAGTCATCACACCTAGGTCTACTGATTAGAGTAAGACCACAGACGAGAAGAGGAAAAGGCACAGAG
TAACAGGTAACTTCAGGCAGATCAAGAGGATACACGTCTGTGTGCTGAACTATAGAGTTACATTTATGTAATGAGTAAGAACATCTTAAT
AAAATAAGAATGAGTATAGCTGGTTTTCCACCAGAATAAGGGAACAAATTAACAGCAACCATTAGAACTAGAATTTATATGTAATTGTAA
ATCTTCAGGACTATGTGATTATAAAAGTATAGAAACAAGCTCCTGCCATCTCAGTAAACATATATTTATGGACACAGAGATAAAGAGCCT
AGATAGAGAACACTTTTAGTTTAAGTTTGTTCTAGATCCTTAACCGCTATGGACCATAAGTCTAGCATTAAGTGGCAGACAATGAATATA
ATGACAAAAGTGAAGTGCTTAATTGTTGTAATGCATGATATTGGTAGAGTGTCAGTATCCATTTGTGTGTGTATATAAAACAAATGAGGC
TCTGGTTTCTAGTTTCAGCTTTATAAATGGCTGACTGTGCAGTTACACCATGTCTACCTAAGTATCTTTGATACTGTGTCATGACCACAT
TTCTAAACTCTATAGTCTTTCTGCCTCACGGAGATTTGAGATAGGTCTTAATTTTTAAAATTAAACTTATTCATATTAAACAAAGACATA
TGAAGACTTTAGTAAGATATATTATGATATATTAAAGACCATTCTGCTCCAGGAAATTAGAAATTAACTACAGGCAAAATACACACATCC
TAAAAAATGTTTTTATCATGTCAACAATAAAACACAAAGACATGAATTAAACATACACCCTTTTCCCGCTGTCTCATTAGGAAATTAAAA
AACAATTCAGAGGTCTGGAGGAAAATGGAAATATTTAAAATGCTTTTTAGAACTGGGGAAGACAGGCCAAGCATGGTGGCTCATCCCTGT
AATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCAGAAATCAGGAGTTCGAGACCCCGCTGGCCAACAGGGCAAAACCCATCTCT
ACCAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCT
GAGAGGCGGAGGTTGCAGTGAGCCGAGATTGCCCCACTGCACTCTAGCCTGGGGGATAGAGTGAAACTCTACCTCCAAAAAAAAGAAAAG
AAAAATAACTGAGGAAGACAGTTTTCACAGTGGGTCAGGTGAGCCTAGAATTATCGAATATCGTCCTTTAACCTATAGCTATGACTCTAG
GTTAAAGCTCCTCCTCAGCTTGCTCCAGTCAAGAGTATCTATGTATTTGAGCCATTTCCTGAAACCAGACTCTAGTGTTTCTGATCAGAC
CAGCTCAGTCTTTAAGTTTCTGAAGTTTGTTTGCTATTTTATAATTATATTCTTGAATACTGTGCATTGAAGAAATAATAAATCTATTGT

>59213_59213_4_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000282516_SPEF2_chr5_35628562_ENST00000509059_length(amino acids)=1422AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMV
GEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAF
HDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKK
GKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDV
SDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKE

--------------------------------------------------------------
>59213_59213_5_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000282469_length(transcript)=4777nt_BP=1963nt
ACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTCCGTCGGTACCGACTCACCCGACACCACCAAG
CCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCCCCCCCGGTAGCTCGGGCCCGTGGTCGGGTGT
TTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGTCTTCTCGGCTGGTCTCCCCCCGGCTCTACAT
GTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGATTATAGTCTCTCGCCACAGCGGCCTCGGCCTC
CCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACA
CCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACCTCCTGAAC
CAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCTTTTG
GCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAACAGATCACATAGAGTTGAAAGATAACCTTGGC
AGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCCTAATGTTTTCAGGGAGAAAAGCATGCAGAAC
AGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCACAGTAGTCCTGCATCTTCCAATTATCAACAA
ACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAACAGATTTATGCCACAGCAAAATAGCCCAGTG
CCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAGTTACACAACACATCCACAGATGCAACAAGCA
TCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTCTGGTCCGTTGTCTGGCAATTCAGCTAATCAT
CATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCTAAGTAGTGACGATGGAGATTCTTCAACAATG
AGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAGTGAAGGAACTCCTAAAGGCTCAAGACCACCT
TTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATATCTTGCTAGATTCTCCAGAAAGAAAACAAAAG
AAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAATGTATGATATAATTAGTTCTCCATCCAAGGAC
TCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGAGGATATGATTTCTGGTGTGGAAAATAGCAAT
GTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACCCATTACTCCACAAGATATAAACCGCCCACTA
AATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGTGCCTGTTTTACAACAGAACACTTCAGTTGCT
GCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACCTATATATGATGAAGTGGAATTGGATGCATTG
GCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGAAGTTCAAGATAAAGGTCCCAAGTCATTTGCA
AAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGATGATTTTTCAGAATTTTTGGACAGCAGGGTT
TCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGTGCAGTTTGATCAGAATGTGGCCCATGGCATC
ATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCAGAAAAAGAAGAAAAGTGGACTGACTGGAGTG
GAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATACTTTTCAAGAGAGACTTAGACACATGATACCA
CGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACACGTGAAAGAAGATCTTGCCCATTTGCATTTT
GAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAAGCAATACTTAAACAGAAGACGACAAAATGAA
ATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTACTTTGAAAGCACTCGAGGCCCAAAAAATGATG
AAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAATAAAAAAGGATCTCCAAGCAAAAGAAAGTGCA
TCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTCAGATGACGAGTACATTAAAAAAATCCAGAAG
CGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTTAATGGACCAGTTAATAGCCCACGAAGCACAA
GAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGAGCGCAGGATTGCCGTGCAGCTCATGCATGTT
CGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGAAAGACGACTTAAAGATTTCCAGGATGCTCTT
GATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAAAGAAAAGAGATTTCATGATCAGATTGCTGTG
GAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCAAATAGTTGATTTGTCCACTAAAGTGGCAGAC
TATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACTATTTTTTAATGCAAAACCCATATATGAACAA
GCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAAAAGGGACTTGCTAGATACCAATGATTATGAA
GAATATAAGGTACCTACTGATATGAAATAATTAGAATGCTACATAATAAATCCTTTTTCTTTAACATTAATTTTGTGATATTCCTTATTT
CATTTCTACTAATAAAAATAGACATGTTTTGTTTGCATTTTCCCTTGTTTTAATTTGTATGTTTGTACTACTTTTTAGATGCTTAAACTA
TACATAAGCTATTATCTATTGTTCCTAGTAATCTTAGGGGAGTGGTCTGAAAAAACATCAAGCATAGTAATTGTCTGGGTAGACAGATTT
CAGAATTTTTAAAATGCTTTAATTTATTTATTAGCATTTTTCTTTGTATGGGCTGTGTACTTTTGCTTCAAAAACCATTGTTAAAAAGTA
TTTCTTTTGTAATCAATCTAAATAATAGACTTTTTTTACAGGCAAAATGAAAGAGGAGGAAGTCTGGGTTTTATGAATAGCATAGATTCA
AACAATCTTTTATTCAAAGATTGAAATAAAAAGTATCGGGTGCCAACTGTGATTTTTAGAAGAACTGTTGTAAAGCCTTTGAGATTAGAC
AGACTAGAGCTACATTACTGAAATTGCCAACTACTAACTGTGTGACCTTAGGTGACCAGTTCATTAAGGGCTAATAGATTTCCATTTTTC
AATTAATGGAAAGGGAATGCTACTATACCTACTTCATTTAAAATAACATGAGTTAAACACTTAGCTGAGTGCACTTCATGTTGGATGCAT
ATAATACATATCCATTTCTTTCCTCACCATCCTACTCTCCCCATCCCACTCCATCTCACCCTTAGAAGTAAAGGTGTAACAATCATAGCT
TTTGGATAGAAATTTTGAGTGGATCAACAGCAATGGAATGAGGAGTGAGGCTTTTTATTAGAAAAATTACAAAATGAGTCCCGGAAGGTC
AGTAAGTGCAACATGAAAAAAATCTATGAAAAGATTATTTGACCTAATTATTCACTGATAGTACATACTCAACAAAGGTTTGTGGGACAA
AGGGTGAATAAAATGAATGAATTACAATGAACAAAGAAAAGTGCAAAATAACACTAACAAGTAAATATTACAAGAAGATAACCTTGTGGT
TAAAAGATAAGGAAAAATATGAGATTATGAGAAATTAAATGTATACTATATTTTAATTAAATGAATCTGTATTTGTAGCACTAAGAGAAT
TATTATTAAGGATTGACTAGAACCTTAAAAGATATATGTGGATGTTTGTTTTGTACGGTTGTAAAATATACTAGACCTATTACATCCACC
TAAAGTATAATGCCATGTAAGAAAATGCTTTGACAGTATCAACCTGTGTTAAGGTATTTCTTTCCATTGTAAATTAAAAGTCATTTTATT

>59213_59213_5_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000282469_length(amino acids)=993AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKVPT

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>59213_59213_6_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000356031_length(transcript)=7432nt_BP=1963nt
ACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTCCGTCGGTACCGACTCACCCGACACCACCAAG
CCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCCCCCCCGGTAGCTCGGGCCCGTGGTCGGGTGT
TTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGTCTTCTCGGCTGGTCTCCCCCCGGCTCTACAT
GTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGATTATAGTCTCTCGCCACAGCGGCCTCGGCCTC
CCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACA
CCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACCTCCTGAAC
CAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCTTTTG
GCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAACAGATCACATAGAGTTGAAAGATAACCTTGGC
AGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCCTAATGTTTTCAGGGAGAAAAGCATGCAGAAC
AGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCACAGTAGTCCTGCATCTTCCAATTATCAACAA
ACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAACAGATTTATGCCACAGCAAAATAGCCCAGTG
CCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAGTTACACAACACATCCACAGATGCAACAAGCA
TCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTCTGGTCCGTTGTCTGGCAATTCAGCTAATCAT
CATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCTAAGTAGTGACGATGGAGATTCTTCAACAATG
AGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAGTGAAGGAACTCCTAAAGGCTCAAGACCACCT
TTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATATCTTGCTAGATTCTCCAGAAAGAAAACAAAAG
AAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAATGTATGATATAATTAGTTCTCCATCCAAGGAC
TCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGAGGATATGATTTCTGGTGTGGAAAATAGCAAT
GTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACCCATTACTCCACAAGATATAAACCGCCCACTA
AATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGTGCCTGTTTTACAACAGAACACTTCAGTTGCT
GCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACCTATATATGATGAAGTGGAATTGGATGCATTG
GCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGAAGTTCAAGATAAAGGTCCCAAGTCATTTGCA
AAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGATGATTTTTCAGAATTTTTGGACAGCAGGGTT
TCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGTGCAGTTTGATCAGAATGTGGCCCATGGCATC
ATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCAGAAAAAGAAGAAAAGTGGACTGACTGGAGTG
GAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATACTTTTCAAGAGAGACTTAGACACATGATACCA
CGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACACGTGAAAGAAGATCTTGCCCATTTGCATTTT
GAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAAGCAATACTTAAACAGAAGACGACAAAATGAA
ATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTACTTTGAAAGCACTCGAGGCCCAAAAAATGATG
AAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAATAAAAAAGGATCTCCAAGCAAAAGAAAGTGCA
TCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTCAGATGACGAGTACATTAAAAAAATCCAGAAG
CGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTTAATGGACCAGTTAATAGCCCACGAAGCACAA
GAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGAGCGCAGGATTGCCGTGCAGCTCATGCATGTT
CGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGAAAGACGACTTAAAGATTTCCAGGATGCTCTT
GATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAAAGAAAAGAGATTTCATGATCAGATTGCTGTG
GAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCAAATAGTTGATTTGTCCACTAAAGTGGCAGAC
TATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACTATTTTTTAATGCAAAACCCATATATGAACAA
GCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAAAAGGGACTTGCTAGATACCAATGATTATGAA
GAATATAAGAACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATGGTTGACAATTTACCACCCTCCAACAATTGCATACTGGGCCATATT
CTTCACAGGCTAGCTGAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATTACCTTCATTTGCTGTTAAAGGATGCTTATTG
GGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAAAAAGACTTTCCTATACAGATACTTTCTATTGACACTCTTGTCCAA
GAAGCTATCCAAGCATTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAAAAATGATGAAGAAGATGCTCTACCAGTTCTG
CAAGAGGAGATTAAAGAAAGCCAGGATCCACAACATGTATTTTCAGCTGGTCCAGTTTCAGATGAAGTATTACCAGAAACAGAAGGTGAA
ACAATGCTTAGTGCTAATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGATAGTTTCTTAAAACTCACTACACGTGCTCAG
CTTGGTGCAAAATCAGAACAGTTGCTGAAGAAAGGAAAGAGCATTCCTGATGTGCTGCTTGTTGACATCATAGTAAATGCTATTAATGAG
ATACCTGTGAATCAAGACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACAGCTTCTGGAAGAAGCTCTTACAGGCTGCAAT
AGAAACCTCACAGAAGTGGAAAGAAAAAAAGCACAAAAATCCACATTGGCTATTGATCCTGCGACTTCCAAAGAAATACCTCTTCCCTCT
CCTGCATTTGATTTTGTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCATGAATGATATTATAGCTGAAGAATTGTCCTAT
AAAACTGCTCACGAAGATATCAGTCAACGTGTAGCTGCTGAAAACCAAGATAAGGATGGAGACCAAAATTTAAGAGACCAGATACAACAT
AGAATTATAGGCTTCTTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGAAAATATTTTGATAAAAATCAATGCTGAAATA
GATAAGGAATCTTTATGTGAAAAAGTAAAAGAAATTCTTACGACTGAAATAGCAAAAAAAAAGAATAAAGTTGAGAAGAAATTAGAAGAA
AAGGAAGCTGAGAAAAAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCCTCCTGCTCCTCCTCCTGAACCAGAAAAAGAG
AAGGAAATTCATCAAAGCCATGTGGCTTCAAAAACTCCTACTGCAAAAGGAAAACCTCAATCAGAAGCCCCGCATGGTAAGCAAGAATCT
CTTCAGGAAGGAAAAGGGAAGAAAGGTGAGACCGCACTCAAAAGAAAAGGTTCTCCTAAAGGAAAATCATCAGGAGGAAAAGTACCAGTA
AAGAAATCACCTGCTGACTCTACAGATACATCACCTGTTGCAATAGTGCCACAGCCACCTAAGCCAGGATCAGAAGAATGGGTCTATGTG
AATGAACCAGTTCCTGAGGAAATGCCTTTGTTTTTAGTACCTTACTGGGAACTAATAGAAAATTCCTATATAAACACCATCAAAACAGTA
CTCAGGCATCTGAGGGAAGACCAGCATACTGTGCTTGCTTACTTATATGAGATTAGAACAAGTTTCCAGGAGTTTCTAAAGCGTCCGGAT
CACAAGCAAGATTTTGTAGCTCAATGGCAGGCTGATTTCAACTCCCTTCCTGATGACCTGTGGGATGATGAGGAAACAAAGGCTGAACTA
CATCAACGAGTGAATGATCTGCGAGACCGCCTGTGGGACATTTGTGATGCCCGGAAGGAAGAGGCGGAGCAGGAGCGGCTTGACATCATT
AATGAGAGCTGGTTACAGGACACTCTTGGAATGACAATGAACCATTTCTTTTCCCTGATGCAGGCAGAGCTGAACCGTTTCCAAGATACA
AAGAGACTCCTTCAAGATTATTACTGGGGAATGGAAAGTAAAATCCCAGTAGAGGACAACAAGAGATTTACTCGAATCCCTTTGGTCCAA
CTGGATAGTAAAGACAATTCTGAAAGCCAGCTTAGAATTCCTCTAGTTCCTCGAATATCCATTTCTCTGGAAACAGTTACACCCAAACCA
AAAACAAAATCAGTACTGAAGGGCAAGATGGATAACTCCCTAGAAAACGTTGAGTCCAACTTTGAGGCCGATGAAAAGTTGGTCATGGAC
ACCTGGCAGCAGGCTTCTTTAGCAGTATCTCACATGGTGGCTGCTGAAATTCATCAGAGGCTTATGGAAGAAGAAAAAGAAAACCAGCCA
GCAGACCCCAAAGAAAAATCTCCTCAGATGGGTGCAAATAAAAAAGTCAAAAAGGAGCCACCCAAGAAAAAACAGGAAGACAAAAAACCC
AAAGGTAAATCACCACCTATGGCAGAAGCAACTCCTGTCATAGTAACAACAGAGGAAATTGCTGAAATCAAAAGGAAAAATGAACTGAGG
GTCAAAATAAAAGAAGAACACCTTGCTGCCTTGCAATTTGAAGAAATAGCCACGCAATTTCGACTTGAACTGATAAAGACAAAAGCATTG
GCTCTTCTTGAAGATTTAGTAACAAAGGTGGTTGATGTATATAAACTCATGGAAAAATGGCTTGGTGAGAGGTATTTGAATGAAATGGCC
AGTACAGAAAAATTAACTGACGTAGCTCGCTATCACATTGAAACATCTACAAAAATTCAGAATGAACTTTATTTAAGCCAAGAAGACTTC
TTCATTAATGGCAATATAAAAGTCTTCCCAGATCCTCCCCCATCAATACGTCCTCCACCTGTAGAAAAGGAAGAAGATGGTACCCTGACC
ATTGAACAGCTTGACAGTCTTCGAGATCAGTTCTTAGATATGGCACCTAAAGGCATAATAGGAAATAAAGCATTTACTGACATTCTGATC
GATTTGGTGACCCTGAACCTTGGCACAAACAACTTTCCTAGTAATTGGATGCACCTTACCCAACCTGAATTACAGGAATTAACATCTTTA
TTAACAGTCAACTCCGAGTTCGTGGACTGGCGGAAGTTCCTGTTAGTAACCTCAATGCCTTGGCCCATTCCCTTGGAGGAGGAGCTCCTT
GAGACCCTTCAGAAGTTCAAGGCTGTGGATAAGGAGCAGTTGGGCACCATCACTTTTGAGCAGTATATGCAGGCTGGTCTGTGGTTTACA
GGAGATGAAGATATAAAAATTCCAGAAAATCCTCTTGAACCCCTTCCATTTAATAGGCAGGAGCATCTTATAGAGTTTTTCTTTAGGCTA
TTTGCTGACTATGAGAAGGATCCACCCCAGCTTGACTACACACAGATGCTGCTTTACTTTGCTTGCCACCCAGACACCGTGGAAGGAGTC
TACAGGGCCCTCAGTGTGGCTGTTGGAACTCATGTCTTCCAACAAGTCAAAGCTTCCATTCCAAGTGCAGAAAAGACCTCCTCAACTGAT
GCAGGTCCAGCTGAGGAATTTCCTGAACCTGAGGAAAATGCTGCAAGAGAAGAAAGGAAATTAAAAGACGACACGGAGAAAAGGGAACAG
AAGGATGAAGAAATCCCTGAAAATGCAAACAATGAAAAGATGTCCATGGAAACACTACTCAAAGTGTTCAAAGGGGGAAGTGAAGCACAG
GACTCCAATAGATTTGCCAGCCACCTAAAGATAGAGAACATTTATGCAGAGGGCTTCATAAAAACATTTCAAGACCTAGGTGCCAAGAAC
CTGGAGCCAATTGAAGTCGCTGTTCTCTTGAAGCATCCTTTTATTCAAGACCTGATTTCAAATTATTCAGACTATAAGTTTCCTGATATT
AAAATAATTCTCCAAAGGAGTGAACATGTACAAGGAAGTGATGGAGAGAGATCACCTTCAAGACATACAGAGGAAAAGAAATGAAGACAA

>59213_59213_6_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000356031_length(amino acids)=2301AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMV
GEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAF
HDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGETMLSANADKTPKAEEVKSSDSFLKLTTRAQLGAKSE
QLLKKGKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFV
ILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLC
EKVKEILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKG
KKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLRE
DQHTVLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQ
DTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVL
KGKMDNSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPP
MAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLT
DVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLN
LGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIK
IPENPLEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEE
FPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEV

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>59213_59213_7_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000440995_length(transcript)=7869nt_BP=1963nt
ACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTCCGTCGGTACCGACTCACCCGACACCACCAAG
CCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCCCCCCCGGTAGCTCGGGCCCGTGGTCGGGTGT
TTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGTCTTCTCGGCTGGTCTCCCCCCGGCTCTACAT
GTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGATTATAGTCTCTCGCCACAGCGGCCTCGGCCTC
CCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACA
CCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACCTCCTGAAC
CAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCTTTTG
GCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAACAGATCACATAGAGTTGAAAGATAACCTTGGC
AGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCCTAATGTTTTCAGGGAGAAAAGCATGCAGAAC
AGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCACAGTAGTCCTGCATCTTCCAATTATCAACAA
ACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAACAGATTTATGCCACAGCAAAATAGCCCAGTG
CCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAGTTACACAACACATCCACAGATGCAACAAGCA
TCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTCTGGTCCGTTGTCTGGCAATTCAGCTAATCAT
CATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCTAAGTAGTGACGATGGAGATTCTTCAACAATG
AGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAGTGAAGGAACTCCTAAAGGCTCAAGACCACCT
TTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATATCTTGCTAGATTCTCCAGAAAGAAAACAAAAG
AAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAATGTATGATATAATTAGTTCTCCATCCAAGGAC
TCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGAGGATATGATTTCTGGTGTGGAAAATAGCAAT
GTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACCCATTACTCCACAAGATATAAACCGCCCACTA
AATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGTGCCTGTTTTACAACAGAACACTTCAGTTGCT
GCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACCTATATATGATGAAGTGGAATTGGATGCATTG
GCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGAAGTTCAAGATAAAGGTCCCAAGTCATTTGCA
AAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGATGATTTTTCAGAATTTTTGGACAGCAGGGTT
TCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGTGCAGTTTGATCAGAATGTGGCCCATGGCATC
ATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCAGAAAAAGAAGAAAAGTGGACTGACTGGAGTG
GAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATACTTTTCAAGAGAGACTTAGACACATGATACCA
CGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACACGTGAAAGAAGATCTTGCCCATTTGCATTTT
GAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAAGCAATACTTAAACAGAAGACGACAAAATGAA
ATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTACTTTGAAAGCACTCGAGGCCCAAAAAATGATG
AAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAATAAAAAAGGATCTCCAAGCAAAAGAAAGTGCA
TCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTCAGATGACGAGTACATTAAAAAAATCCAGAAG
CGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTTAATGGACCAGTTAATAGCCCACGAAGCACAA
GAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGAGCGCAGGATTGCCGTGCAGCTCATGCATGTT
CGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGAAAGACGACTTAAAGATTTCCAGGATGCTCTT
GATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAAAGAAAAGAGATTTCATGATCAGATTGCTGTG
GAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCAAATAGTTGATTTGTCCACTAAAGTGGCAGAC
TATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACTATTTTTTAATGCAAAACCCATATATGAACAA
GCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAAAAGGGACTTGCTAGATACCAATGATTATGAA
GAATATAAGAACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATGGTTGACAATTTACCACCCTCCAACAATTGCATACTGGGCCATATT
CTTCACAGGCTAGCTGAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATTACCTTCATTTGCTGTTAAAGGATGCTTATTG
GGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAAAAAGACTTTCCTATACAGATACTTTCTATTGACACTCTTGTCCAA
GAAGCTATCCAAGCATTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAAAAATGATGAAGAAGATGCTCTACCAGTTCTG
CAAGAGGAGATTAAAGAAAGCCAGGATCCACAACATGTATTTTCAGCTGGTCCAGTTTCAGATGAAGTATTACCAGAAACAGAAGGTGCT
AATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGATAGTTTCTTAAAACTCACTACACGTGCTCAGCTTGGTGCAAAATCA
GAACAGTTGCTGAAGAAAGGAAAGAGCATTCCTGATGTGCTGCTTGTTGACATCATAGTAAATGCTATTAATGAGATACCTGTGAATCAA
GACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACAGCTTCTGGAAGAAGCTCTTACAGGCTGCAATAGAAACCTCACAGAA
GTGGAAAGAAAAAAAGCACAAAAATCCACATTGGCTATTGATCCTGCGACTTCCAAAGAAATACCTCTTCCCTCTCCTGCATTTGATTTT
GTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCATGAATGATATTATAGCTGAAGAATTGTCCTATAAAACTGCTCACGAA
GATATCAGTCAACGTGTAGCTGCTGAAAACCAAGATAAGGATGGAGACCAAAATTTAAGAGACCAGATACAACATAGAATTATAGGCTTC
TTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGAAAATATTTTGATAAAAATCAATGCTGAAATAGATAAGGAATCTTTA
TGTGAAAAAGTAAAAGAAATTCTTACGACTGAAATAGCAAAAAAAAAGAATAAAGTTGAGAAGAAATTAGAAGAAAAGGAAGCTGAGAAA
AAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCCTCCTGCTCCTCCTCCTGAACCAGAAAAAGAGAAGGAAATTCATCAA
AGCCATGTGGCTTCAAAAACTCCTACTGCAAAAGGAAAACCTCAATCAGAAGCCCCGCATGGTAAGCAAGAATCTCTTCAGGAAGGAAAA
GGGAAGAAAGGTGAGACCGCACTCAAAAGAAAAGGTTCTCCTAAAGGAAAATCATCAGGAGGAAAAGTACCAGTAAAGAAATCACCTGCT
GACTCTACAGATACATCACCTGTTGCAATAGTGCCACAGCCACCTAAGCCAGGATCAGAAGAATGGGTCTATGTGAATGAACCAGTTCCT
GAGGAAATGCCTTTGTTTTTAGTACCTTACTGGGAACTAATAGAAAATTCCTATATAAACACCATCAAAACAGTACTCAGGCATCTGAGG
GAAGACCAGCATACTGTGCTTGCTTACTTATATGAGATTAGAACAAGTTTCCAGGAGTTTCTAAAGCGTCCGGATCACAAGCAAGATTTT
GTAGCTCAATGGCAGGCTGATTTCAACTCCCTTCCTGATGACCTGTGGGATGATGAGGAAACAAAGGCTGAACTACATCAACGAGTGAAT
GATCTGCGAGACCGCCTGTGGGACATTTGTGATGCCCGGAAGGAAGAGGCGGAGCAGGAGCGGCTTGACATCATTAATGAGAGCTGGTTA
CAGGACACTCTTGGAATGACAATGAACCATTTCTTTTCCCTGATGCAGGCAGAGCTGAACCGTTTCCAAGATACAAAGAGACTCCTTCAA
GATTATTACTGGGGAATGGAAAGTAAAATCCCAGTAGAGGACAACAAGAGATTTACTCGAATCCCTTTGGTCCAACTGGATAGTAAAGAC
AATTCTGAAAGCCAGCTTAGAATTCCTCTAGTTCCTCGAATATCCATTTCTCTGGAAACAGTTACACCCAAACCAAAAACAAAATCAGTA
CTGAAGGGCAAGATGGATAACTCCCTAGAAAACGTTGAGTCCAACTTTGAGGCCGATGAAAAGTTGGTCATGGACACCTGGCAGCAGGCT
TCTTTAGCAGTATCTCACATGGTGGCTGCTGAAATTCATCAGAGGCTTATGGAAGAAGAAAAAGAAAACCAGCCAGCAGACCCCAAAGAA
AAATCTCCTCAGATGGGTGCAAATAAAAAAGTCAAAAAGGAGCCACCCAAGAAAAAACAGGAAGACAAAAAACCCAAAGGTAAATCACCA
CCTATGGCAGAAGCAACTCCTGTCATAGTAACAACAGAGGAAATTGCTGAAATCAAAAGGAAAAATGAACTGAGGGTCAAAATAAAAGAA
GAACACCTTGCTGCCTTGCAATTTGAAGAAATAGCCACGCAATTTCGACTTGAACTGATAAAGACAAAAGCATTGGCTCTTCTTGAAGAT
TTAGTAACAAAGGTGGTTGATGTATATAAACTCATGGAAAAATGGCTTGGTGAGAGGTATTTGAATGAAATGGCCAGTACAGAAAAATTA
ACTGACGTAGCTCGCTATCACATTGAAACATCTACAAAAATTCAGAATGAACTTTATTTAAGCCAAGAAGACTTCTTCATTAATGGCAAT
ATAAAAGTCTTCCCAGATCCTCCCCCATCAATACGTCCTCCACCTGTAGAAAAGGAAGAAGATGGTACCCTGACCATTGAACAGCTTGAC
AGTCTTCGAGATCAGTTCTTAGATATGGCACCTAAAGGCATAATAGGAAATAAAGCATTTACTGACATTCTGATCGATTTGGTGACCCTG
AACCTTGGCACAAACAACTTTCCTAGTAATTGGATGCACCTTACCCAACCTGAATTACAGGAATTAACATCTTTATTAACAGTCAACTCC
GAGTTCGTGGACTGGCGGAAGTTCCTGTTAGTAACCTCAATGCCTTGGCCCATTCCCTTGGAGGAGGAGCTCCTTGAGACCCTTCAGAAG
TTCAAGGCTGTGGATAAGGAGCAGTTGGGCACCATCACTTTTGAGCAGTATATGCAGGCTGGTCTGTGGTTTACAGGAGATGAAGATATA
AAAATTCCAGAAAATCCTCTTGAACCCCTTCCATTTAATAGGCAGGAGCATCTTATAGAGTTTTTCTTTAGGCTATTTGCTGACTATGAG
AAGGATCCACCCCAGCTTGACTACACACAGATGCTGCTTTACTTTGCTTGCCACCCAGACACCGTGGAAGGAGTCTACAGGGCCCTCAGT
GTGGCTGTTGGAACTCATGTCTTCCAACAAGTCAAAGCTTCCATTCCAAGTGCAGAAAAGACCTCCTCAACTGATGCAGGTCCAGCTGAG
GAATTTCCTGAACCTGAGGAAAATGCTGCAAGAGAAGAAAGGAAATTAAAAGACGACACGGAGAAAAGGGAACAGAAGGATGAAGAAATC
CCTGAAAATGCAAACAATGAAAAGATGTCCATGGAAACACTACTCAAAGTGTTCAAAGGGGGAAGTGAAGCACAGGACTCCAATAGATTT
GCCAGCCACCTAAAGATAGAGAACATTTATGCAGAGGGCTTCATAAAAACATTTCAAGACCTAGGTGCCAAGAACCTGGAGCCAATTGAA
GTCGCTGTTCTCTTGAAGCATCCTTTTATTCAAGACCTGATTTCAAATTATTCAGACTATAAGTTTCCTGTACACATCATCTATGTAGTG
GAAATGATAGTGTGTGCAAAAGGTTGGGCACCACTTCCATCAGGAAAACAGTGTGCAAGATGGAGAAACTAAGGACAAACCCCAGAGAAA
CTGGACAAACCCAGCAGAAGAAAGGAAGAACTGCAACTCAGAAATCACATAACCACCAAGCAGGTCTGGACCACACATGCTAAATGTGCA
TCCACTATGGCGAGTCCCAGGCCTTTAACAGCAGGGACTAAGGAGGGCAGAGGCTGACACCAACCCCCTTTCATACTGTAGCACTACATC
CCTCTCAGATACCAGTTTAACACGAAGTCTCCCTGTTTGACTCCTGTGAGTTGTGTATTGAACTACAAAGTGTTTGCTGAGTTGAAAATA
AAAGCGCTTTCACTTTGATAGAATGTAGATTGTGTATCTTGACTTCTCAATGATAGCAAGTTACATTTTGCAGTTTTCTTCCTATACCCA
CAAATGAAACTATTCAGACTTAAATATCTTCCTGTGTGCCTAAACGTTTTTGTTCTAAGTTGCTGATCCTTTTAAATATTAAATTATTAA

>59213_59213_7_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000440995_length(amino acids)=2297AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMV
GEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAF
HDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKK
GKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDV
SDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKE
ILTTEIAKKKNKVEKKLEEKEAEKKAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGKGKKGET
ALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTV
LAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQDTLGM
TMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKDNSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMD
NSLENVESNFEADEKLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSPPMAEAT
PVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARY
HIETSTKIQNELYLSQEDFFINGNIKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTLNLGTNN
FPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENP
LEPLPFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAEEFPEPE
ENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRFASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLK

--------------------------------------------------------------
>59213_59213_8_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000509059_length(transcript)=6458nt_BP=1963nt
ACGGAACGAGAGAGAGACACACACAGGGCTCCTTCCCCCCGCCCTCCCCCCCCTCCCTCCGTCGGTACCGACTCACCCGACACCACCAAG
CCGCAGGGAGGGACGCCCCCGCCGACAGGAGAATTGGTTCCCGGGCCCGCGGCGATGCCCCCCCGGTAGCTCGGGCCCGTGGTCGGGTGT
TTGTGAGTGTTTCTATGTGGGAGAAGGAGGAGGAGGAGGAAGAAGAAGCAACGATTTGTCTTCTCGGCTGGTCTCCCCCCGGCTCTACAT
GTTCCCCGCACTGAGGAGACGGAAGAGGAGCCGTAGCCACCCCCCCTCCCGGCCCGGATTATAGTCTCTCGCCACAGCGGCCTCGGCCTC
CCCTTGGATTCAGACGCCGATTCGCCCAGTGTTTGGGAAATGGGAAGTAATGACAGCTGGCACCTGAACTAAGTACTTTTATAGGCAACA
CCATTCCAGAAATTCAGGATGAATGGGGATATGCCCCATGTCCCCATTACTACTCTTGCGGGGATTGCTAGTCTCACAGACCTCCTGAAC
CAGCTGCCTCTTCCATCTCCTTTACCTGCTACAACTACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCTTTTG
GCTTGTAGGGATGACAATTTGGTTTCACAGCTTGTCCATAGCCTCAACCAGGTATCAACAGATCACATAGAGTTGAAAGATAACCTTGGC
AGTGATGACCCAGAAGGTGACATACCAGTCTTGTTGCAGGCCGTCCTGGCAAGGAGTCCTAATGTTTTCAGGGAGAAAAGCATGCAGAAC
AGATATGTACAAAGTGGAATGATGATGTCTCAGTATAAACTTTCTCAGAATTCCATGCACAGTAGTCCTGCATCTTCCAATTATCAACAA
ACCACTATCTCACATAGCCCCTCCAGCCGGTTTGTGCCACCACAGACAAGCTCTGGGAACAGATTTATGCCACAGCAAAATAGCCCAGTG
CCTAGTCCATACGCCCCACAAAGCCCTGCAGGATACATGCCATATTCCCATCCTTCAAGTTACACAACACATCCACAGATGCAACAAGCA
TCGGTATCAAGTCCCATTGTTGCAGGTGGTTTGAGAAACATACATGATAATAAAGTTTCTGGTCCGTTGTCTGGCAATTCAGCTAATCAT
CATGCTGATAATCCTAGACATGGTTCAAGTGAGGACTACCTACACATGGTGCACAGGCTAAGTAGTGACGATGGAGATTCTTCAACAATG
AGGAATGCTGCATCTTTTCCCTTGAGATCTCCACAGCCAGTATGCTCCCCTGCTGGAAGTGAAGGAACTCCTAAAGGCTCAAGACCACCT
TTAATCCTACAATCTCAGTCTCTACCTTGTTCATCACCTCGAGATGTTCCACCAGATATCTTGCTAGATTCTCCAGAAAGAAAACAAAAG
AAGCAGAAGAAAATGAAATTAGGCAAGGATGAAAAAGAGCAGAGTGAGAAAGCGGCAATGTATGATATAATTAGTTCTCCATCCAAGGAC
TCTACTAAACTTACATTAAGACTTTCTCGTGTAAGGTCTTCAGACATGGACCAGCAAGAGGATATGATTTCTGGTGTGGAAAATAGCAAT
GTTTCAGAAAATGATATTCCTTTTAATGTGCAGTACCCAGGACAGACTTCAAAAACACCCATTACTCCACAAGATATAAACCGCCCACTA
AATGCTGCTCAATGTTTGTCGCAGCAAGAACAAACAGCATTCCTTCCAGCAAATCAAGTGCCTGTTTTACAACAGAACACTTCAGTTGCT
GCAAAACAACCCCAGACTTCTGTGGTACAGAATCAACAACAGATATCACAACAGGGACCTATATATGATGAAGTGGAATTGGATGCATTG
GCTGAAATTGAGCGAATAGAGAGAGAATCAGCTATTGAAAGGGAGCGCTTCTCAAAAGAAGTTCAAGATAAAGGTCCCAAGTCATTTGCA
AAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAGTTTGAACTTCAGGATGATTTTTCAGAATTTTTGGACAGCAGGGTT
TCAAGTGCCAAACTTAATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGTGCAGTTTGATCAGAATGTGGCCCATGGCATC
ATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTGTACATTGCTCTTCAGAAAAAGAAGAAAAGTGGACTGACTGGAGTG
GAGATGCAAACCATGCAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATACTTTTCAAGAGAGACTTAGACACATGATACCA
CGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAAGAAAAATATAAACACGTGAAAGAAGATCTTGCCCATTTGCATTTT
GAGAAACTTGAAAGATTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAAGCAATACTTAAACAGAAGACGACAAAATGAA
ATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCTGCATCAAATCGTACTTTGAAAGCACTCGAGGCCCAAAAAATGATG
AAAAAGAAAAAAGAGGCAGAAGATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAATAAAAAAGGATCTCCAAGCAAAAGAAAGTGCA
TCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTGTTAAATACTTACTCAGATGACGAGTACATTAAAAAAATCCAGAAG
CGCCTTGAAGAAGATGCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTTAATGGACCAGTTAATAGCCCACGAAGCACAA
GAGGAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGGCAGTCCCAGCAGGAGCGCAGGATTGCCGTGCAGCTCATGCATGTT
CGGCATGAAAAGGAAGTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGAAAGACGACTTAAAGATTTCCAGGATGCTCTT
GATCGAGAAGCGGCTTTGGCAAAACAAGCCAAGATTGACTTTGAAGAACAATTCCTTAAAGAAAAGAGATTTCATGATCAGATTGCTGTG
GAAAGAGCTCAAGCTCGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCAAATAGTTGATTTGTCCACTAAAGTGGCAGAC
TATCGAATGTTGACAAATAATCTGATTCCGTATAAGTTGATGCATGATTGGAAGGAACTATTTTTTAATGCAAAACCCATATATGAACAA
GCCTCTGTTAAGACACTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAAAAGGGACTTGCTAGATACCAATGATTATGAA
GAATATAAGAACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATGGTTGACAATTTACCACCCTCCAACAATTGCATACTGGGCCATATT
CTTCACAGGCTAGCTGAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATTACCTTCATTTGCTGTTAAAGGATGCTTATTG
GGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAAAAAGACTTTCCTATACAGATACTTTCTATTGACACTCTTGTCCAA
GAAGCTATCCAAGCATTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAAAAATGATGAAGAAGATGCTCTACCAGTTCTG
CAAGAGGAGATTAAAGAAAGCCAGGATCCACAACATGTATTTTCAGCTGGTCCAGTTTCAGATGAAGTATTACCAGAAACAGAAGGTGCT
AATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGATAGTTTCTTAAAACTCACTACACGTGCTCAGCTTGGTGCAAAATCA
GAACAGTTGCTGAAGAAAGGAAAGAGCATTCCTGATGTGCTGCTTGTTGACATCATAGTAAATGCTATTAATGAGATACCTGTGAATCAA
GACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACAGCTTCTGGAAGAAGCTCTTACAGGCTGCAATAGAAACCTCACAGAA
GTGGAAAGAAAAAAAGCACAAAAATCCACATTGGCTATTGATCCTGCGACTTCCAAAGAAATACCTCTTCCCTCTCCTGCATTTGATTTT
GTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCATGAATGATATTATAGCTGAAGAATTGTCCTATAAAACTGCTCACGAA
GATATCAGTCAACGTGTAGCTGCTGAAAACCAAGATAAGGATGGAGACCAAAATTTAAGAGACCAGATACAACATAGAATTATAGGCTTC
TTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGAAAATATTTTGATAAAAATCAATGCTGAAATAGATAAGGAATCTTTA
TGTGAAAAAGTAAAAGAAATTCTTACGACTGAAATAGCAAAAAAAAAGAATAAAGTTGAGAAGAAATTAGAAGAAAAGGAAGCTGAGAAA
AAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCCTCCTGCTCCTCCTCCTGAACCAGAAAAAGAGAAGGAAATTCATCAA
AGCCATGTGGCTTCAAAAACTCCTACTGCAAAAGGAAAACCTCAATCAGGTGATTGACAGAATGATTTATAATCCTGTTTTCAGTTTCTT
ATTTTTACTCAGTAAAGAATTATAAATTATAGTCTATCTACATTCAGACTTTGGGCAACTTCAATCATATGAAACAAGGCTTTACACTCA
GATGGAAGTGGAAAAGCCCTCGGAGTAGCTAAAAGCGTAGTTGTTACAAAGCCCAACTTCTTTGCCATGTAGGAGGAGACATGGAGTCAT
CACACCTAGGTCTACTGATTAGAGTAAGACCACAGACGAGAAGAGGAAAAGGCACAGAGTAACAGGTAACTTCAGGCAGATCAAGAGGAT
ACACGTCTGTGTGCTGAACTATAGAGTTACATTTATGTAATGAGTAAGAACATCTTAATAAAATAAGAATGAGTATAGCTGGTTTTCCAC
CAGAATAAGGGAACAAATTAACAGCAACCATTAGAACTAGAATTTATATGTAATTGTAAATCTTCAGGACTATGTGATTATAAAAGTATA
GAAACAAGCTCCTGCCATCTCAGTAAACATATATTTATGGACACAGAGATAAAGAGCCTAGATAGAGAACACTTTTAGTTTAAGTTTGTT
CTAGATCCTTAACCGCTATGGACCATAAGTCTAGCATTAAGTGGCAGACAATGAATATAATGACAAAAGTGAAGTGCTTAATTGTTGTAA
TGCATGATATTGGTAGAGTGTCAGTATCCATTTGTGTGTGTATATAAAACAAATGAGGCTCTGGTTTCTAGTTTCAGCTTTATAAATGGC
TGACTGTGCAGTTACACCATGTCTACCTAAGTATCTTTGATACTGTGTCATGACCACATTTCTAAACTCTATAGTCTTTCTGCCTCACGG
AGATTTGAGATAGGTCTTAATTTTTAAAATTAAACTTATTCATATTAAACAAAGACATATGAAGACTTTAGTAAGATATATTATGATATA
TTAAAGACCATTCTGCTCCAGGAAATTAGAAATTAACTACAGGCAAAATACACACATCCTAAAAAATGTTTTTATCATGTCAACAATAAA
ACACAAAGACATGAATTAAACATACACCCTTTTCCCGCTGTCTCATTAGGAAATTAAAAAACAATTCAGAGGTCTGGAGGAAAATGGAAA
TATTTAAAATGCTTTTTAGAACTGGGGAAGACAGGCCAAGCATGGTGGCTCATCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGC
AGATCACCAGAAATCAGGAGTTCGAGACCCCGCTGGCCAACAGGGCAAAACCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGT
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCCGAGATTG
CCCCACTGCACTCTAGCCTGGGGGATAGAGTGAAACTCTACCTCCAAAAAAAAGAAAAGAAAAATAACTGAGGAAGACAGTTTTCACAGT
GGGTCAGGTGAGCCTAGAATTATCGAATATCGTCCTTTAACCTATAGCTATGACTCTAGGTTAAAGCTCCTCCTCAGCTTGCTCCAGTCA
AGAGTATCTATGTATTTGAGCCATTTCCTGAAACCAGACTCTAGTGTTTCTGATCAGACCAGCTCAGTCTTTAAGTTTCTGAAGTTTGTT

>59213_59213_8_NIPBL-SPEF2_NIPBL_chr5_36976504_ENST00000448238_SPEF2_chr5_35628562_ENST00000509059_length(amino acids)=1422AA_BP=498
MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEG
DIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP
QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASF
PLRSPQPVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL
RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKGPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKLN
NFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDFN
LMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEA
EDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEEDAFAREQREKRRRKLLMDQLIAHEAQEEAYRE
EQLINRLMRQSQQERRIAVQLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQAR
YEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLDTNDYEEYKNMV
GEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQAF
HDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKK
GKSIPDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDV
SDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKE

--------------------------------------------------------------

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Fusion Gene PPI Analysis for NIPBL-SPEF2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneSPEF2chr5:36976504chr5:35628562ENST000002824690101324_167619.333333333333332515.0IFT20
TgeneSPEF2chr5:36976504chr5:35628562ENST000003031290131324_16760620.0IFT20
TgeneSPEF2chr5:36976504chr5:35628562ENST000003560310371324_167619.3333333333333321823.0IFT20
TgeneSPEF2chr5:36976504chr5:35628562ENST000004409950371324_167619.3333333333333321819.0IFT20


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for NIPBL-SPEF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NIPBL-SPEF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource