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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:EFCAB2-SDCCAG8 (FusionGDB2 ID:HG84288TG10806)

Fusion Gene Summary for EFCAB2-SDCCAG8

check button Fusion gene summary
Fusion gene informationFusion gene name: EFCAB2-SDCCAG8
Fusion gene ID: hg84288tg10806
HgeneTgene
Gene symbol

EFCAB2

SDCCAG8

Gene ID

84288

10806

Gene nameEF-hand calcium binding domain 2SHH signaling and ciliogenesis regulator SDCCAG8
SynonymsCFAP200|DRC8BBS16|CCCAP|CCCAP SLSN7|HSPC085|NPHP10|NY-CO-8|SLSN7|hCCCAP
Cytomap('EFCAB2')('SDCCAG8')

1q44

1q43-q44

Type of geneprotein-codingprotein-coding
Descriptiondynein regulatory complex protein 8EF-hand calcium-binding domain-containing protein 2dynein regulatory complex subunit 8serologically defined colon cancer antigen 8Bardet-Biedl syndrome 16antigen NY-CO-8centrosomal colon cancer autoantigen proteinnephrocystin 10
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000487845, ENST00000366522, 
ENST00000366523, ENST00000447569, 
Fusion gene scores* DoF score4 X 4 X 3=4822 X 19 X 10=4180
# samples 526
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(26/4180*10)=-4.00691941393979
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EFCAB2 [Title/Abstract] AND SDCCAG8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEFCAB2(245222760)-SDCCAG8(243449574), # samples:3
Anticipated loss of major functional domain due to fusion event.EFCAB2-SDCCAG8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EFCAB2-SDCCAG8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
EFCAB2-SDCCAG8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
EFCAB2-SDCCAG8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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

check buttonFusion gene breakpoints across EFCAB2 (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 SDCCAG8 (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
* 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
ChimerDB4LUADTCGA-78-7155-01AEFCAB2chr1

245222760

-SDCCAG8chr1

243449574

+
ChimerDB4LUADTCGA-78-7155-01AEFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+


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Fusion Gene ORF analysis for EFCAB2-SDCCAG8

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-3CDSENST00000487845ENST00000355875EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
3UTR-3CDSENST00000487845ENST00000366541EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
3UTR-5UTRENST00000487845ENST00000343783EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
3UTR-5UTRENST00000487845ENST00000391846EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
3UTR-intronENST00000487845ENST00000496361EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-5UTRENST00000366522ENST00000343783EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-5UTRENST00000366522ENST00000391846EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-5UTRENST00000366523ENST00000343783EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-5UTRENST00000366523ENST00000391846EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-5UTRENST00000447569ENST00000343783EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-5UTRENST00000447569ENST00000391846EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-intronENST00000366522ENST00000496361EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-intronENST00000366523ENST00000496361EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
5CDS-intronENST00000447569ENST00000496361EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
In-frameENST00000366522ENST00000355875EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
In-frameENST00000366522ENST00000366541EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
In-frameENST00000366523ENST00000355875EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
In-frameENST00000366523ENST00000366541EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
In-frameENST00000447569ENST00000355875EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+
In-frameENST00000447569ENST00000366541EFCAB2chr1

245222760

+SDCCAG8chr1

243449574

+

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)
ENST00000366523EFCAB2chr1245222760+ENST00000355875SDCCAG8chr1243449574+23424482652040591
ENST00000366523EFCAB2chr1245222760+ENST00000366541SDCCAG8chr1243449574+24774482652169634
ENST00000366522EFCAB2chr1245222760+ENST00000355875SDCCAG8chr1243449574+26267321412324727
ENST00000366522EFCAB2chr1245222760+ENST00000366541SDCCAG8chr1243449574+27617321412453770
ENST00000447569EFCAB2chr1245222760+ENST00000355875SDCCAG8chr1243449574+2169275921867591
ENST00000447569EFCAB2chr1245222760+ENST00000366541SDCCAG8chr1243449574+2304275921996634

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
ENST00000366523ENST00000355875EFCAB2chr1245222760+SDCCAG8chr1243449574+0.0072432380.9927568
ENST00000366523ENST00000366541EFCAB2chr1245222760+SDCCAG8chr1243449574+0.0102338030.9897662
ENST00000366522ENST00000355875EFCAB2chr1245222760+SDCCAG8chr1243449574+0.0056171930.99438274
ENST00000366522ENST00000366541EFCAB2chr1245222760+SDCCAG8chr1243449574+0.0047477860.99525225
ENST00000447569ENST00000355875EFCAB2chr1245222760+SDCCAG8chr1243449574+0.0077874270.9922126
ENST00000447569ENST00000366541EFCAB2chr1245222760+SDCCAG8chr1243449574+0.0106824830.9893175

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Fusion Genomic Features for EFCAB2-SDCCAG8


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)
EFCAB2chr1245222760+SDCCAG8chr1243449573+0.0002142720.9997857
EFCAB2chr1245222760+SDCCAG8chr1243449573+0.0002142720.9997857

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 EFCAB2-SDCCAG8


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/chr1:245222760/chr1:243449574)
- 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
..
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}.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
HgeneEFCAB2chr1:245222760chr1:243449574ENST00000366522+48150_185197270.0DomainEF-hand 1
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000366541318223_273140714.0Coiled coilOntology_term=ECO:0000255
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000366541318348_707140714.0Coiled coilOntology_term=ECO:0000255
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000391846310223_273140361.0Coiled coilOntology_term=ECO:0000255
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000391846310348_707140361.0Coiled coilOntology_term=ECO:0000255
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000366541318534_692140714.0Compositional biasNote=Gln-rich
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000391846310534_692140361.0Compositional biasNote=Gln-rich
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000366541318216_713140714.0RegionSufficient for homodimerization
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000391846310216_713140361.0RegionSufficient for homodimerization

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEFCAB2chr1:245222760chr1:243449574ENST00000366522+48228_263197270.0DomainEF-hand 2
HgeneEFCAB2chr1:245222760chr1:243449574ENST00000366523+48150_18561163.0DomainEF-hand 1
HgeneEFCAB2chr1:245222760chr1:243449574ENST00000366523+48228_26361163.0DomainEF-hand 2
HgeneEFCAB2chr1:245222760chr1:243449574ENST00000447569+37150_18561134.0DomainEF-hand 1
HgeneEFCAB2chr1:245222760chr1:243449574ENST00000447569+37228_26361134.0DomainEF-hand 2
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000366541318129_175140714.0Coiled coilOntology_term=ECO:0000255
TgeneSDCCAG8chr1:245222760chr1:243449574ENST00000391846310129_175140361.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for EFCAB2-SDCCAG8


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.
>25299_25299_1_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366522_SDCCAG8_chr1_243449574_ENST00000355875_length(transcript)=2626nt_BP=732nt
GCAGTTAACAACAAAAATCGAGCAACGCCACGTCGCACAAACAGGACAGGAGGGGGCGAGGGGTGTGTGCGCGCGCGTGCTGTCCCCAAA
TGGATGAGAAATAAGGGAAAGGAGGGGTTGGGGACCGTGTGATGAAGCAACATGCTAGGCCCGGGACAAGTCCGGCTCCGGCCTCGGGTC
TGGAGGGACAAGGCCGGGGGCCGGGTGGCAGACGGGGCCTCTGGTCTTCCCCCAGCGCGAGGGTCGTGGCGCGAAACGGGGACAGGGCGC
GCGCTCGGAGCCTCCTCCCCGCCCCGCCCCGCCCAAGGGTCTTCCTCCCCCGGGATTCAGAGCGGCCCCTCCTCCAGGCCAGGCTCGCCG
CGGGGCGCTGAGCAGGCCGGGACACCGCGGCCGAGGTTATCGTTAGGCATCTCCCAGGCGACCGGCTCCGCAGCAAGATGGCGGACGAGA
AGGACAGGGAAGGGCCTGGGATACAACAGTGATGAGATAAGGCCTCGGACTTTACTGATCGAACATCTAATGGAAGGTGGAAGAAGAGAC
CATCACACAATGACGGTGTTATGGGGAACACAGGAGATAATAGTAGCAGAATTTCACAAAAAAATCAAAGAGGCATTTGAAGTCTTTGAC
CATGAGTCGAATAATACAGTGGATGTGAGAGAGATTGGAACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGAT
CTGATTGCAGAGGAGGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCT
CAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCCGAGAAGCTAAAACTTACTTATGAGGAAAAGTGTGAAATTGAG
GAATCCCAATTGAAGTTTTTGAGGAACGACTTAGCTGAATATCAGAGAACTTGTGAAGATCTTAAAGAGCAACTAAAGCATAAAGAATTT
CTTCTGGCTGCTAATACTTGTAACCGTGTTGGTGGTCTTTGTTTGAAATGTGCTCAGCATGAAGCTGTTCTTTCCCAAACCCATACTAAT
GTTCATATGCAGACCATCGAAAGACTGGTTAAAGAAAGAGATGACTTGATGTCTGCACTAGTTTCCGTAAGGAGCAGCTTGGCAGATACG
CAGCAAAGAGAAGCAAGTGCTTATGAACAGGTGAAACAAGTTTTGCAAATATCTGAGGAAGCCAATTTTGAAAAAACCAAGGCTTTAATC
CAGTGTGACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAACTTGCATCTCAGCAAGAGAAAAGGGCCATTGAG
AAAGACATGATGAAAAAGGAAATAACGAAAGAAAGGGAGTACATGGGATCAAAGATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAG
GCCCAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTGGAGGAAATTCAAAGCCAGCTGGCTTCTCGGGAAATGGAT
GTCACAAAGGTGTGTGGAGAAATGCGCTATCAGCTGAATAAAACCAACATGGAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGA
GCAAAAACTAACAGGGATCTTGAAATTAAAGATCAGGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAG
GAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGA
CAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAG
AAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTA
AAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGG
TATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATG
AAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTG
GAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGACCTGGATGGAACAGA
GTGAAATAAATGATTTACAAAGAGATATTTACATTCATCTGGTTTAGACTTAATATGCCACAACGCACCACGACCTTCCCAGGGTGACAC
CGCCTCAGCCTGCAGTGGGGCTGGTCCTCATCAACGCGGGCGCTGTCCCCGCACGCAGTCGGGCTGGAGCTGGAGTCTGACTCTAGCTGA
GCAGAGCTCCTGGTGTATGTTTTCAGAAATGGCTTGAAGTTATGTGTTTAAATCTGCTCATTCGTATGCTAGGTTATACATATGATTTTC
AATAAATGAACTTTTT

>25299_25299_1_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366522_SDCCAG8_chr1_243449574_ENST00000355875_length(amino acids)=727AA_BP=197
MLGPGQVRLRPRVWRDKAGGRVADGASGLPPARGSWRETGTGRALGASSPPRPAQGSSSPGIQSGPSSRPGSPRGAEQAGTPRPRLSLGI
SQATGSAARWRTRRTGKGLGYNSDEIRPRTLLIEHLMEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIR
SLGCCPTEGELHDLIAEEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASEKLKLTYEEKCEIEESQLKFLRNDLAEYQRT
CEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQI
SEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQL
EEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTE
LLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQK
TRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLP
SMPQSDC

--------------------------------------------------------------
>25299_25299_2_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366522_SDCCAG8_chr1_243449574_ENST00000366541_length(transcript)=2761nt_BP=732nt
GCAGTTAACAACAAAAATCGAGCAACGCCACGTCGCACAAACAGGACAGGAGGGGGCGAGGGGTGTGTGCGCGCGCGTGCTGTCCCCAAA
TGGATGAGAAATAAGGGAAAGGAGGGGTTGGGGACCGTGTGATGAAGCAACATGCTAGGCCCGGGACAAGTCCGGCTCCGGCCTCGGGTC
TGGAGGGACAAGGCCGGGGGCCGGGTGGCAGACGGGGCCTCTGGTCTTCCCCCAGCGCGAGGGTCGTGGCGCGAAACGGGGACAGGGCGC
GCGCTCGGAGCCTCCTCCCCGCCCCGCCCCGCCCAAGGGTCTTCCTCCCCCGGGATTCAGAGCGGCCCCTCCTCCAGGCCAGGCTCGCCG
CGGGGCGCTGAGCAGGCCGGGACACCGCGGCCGAGGTTATCGTTAGGCATCTCCCAGGCGACCGGCTCCGCAGCAAGATGGCGGACGAGA
AGGACAGGGAAGGGCCTGGGATACAACAGTGATGAGATAAGGCCTCGGACTTTACTGATCGAACATCTAATGGAAGGTGGAAGAAGAGAC
CATCACACAATGACGGTGTTATGGGGAACACAGGAGATAATAGTAGCAGAATTTCACAAAAAAATCAAAGAGGCATTTGAAGTCTTTGAC
CATGAGTCGAATAATACAGTGGATGTGAGAGAGATTGGAACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGAT
CTGATTGCAGAGGAGGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCT
CAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCCGGAAACATGCACAATTCTTGGATTACAACAGGTGAAGATTCT
GGGGTGGGCGAAACCTCCAAAAGACCATTTTCCCATGACAATGCAGATTTTGGCAAAGCTGCATCTGCTGGTGAGCAGCTAGAACTGGAG
AAGCTAAAACTTACTTATGAGGAAAAGTGTGAAATTGAGGAATCCCAATTGAAGTTTTTGAGGAACGACTTAGCTGAATATCAGAGAACT
TGTGAAGATCTTAAAGAGCAACTAAAGCATAAAGAATTTCTTCTGGCTGCTAATACTTGTAACCGTGTTGGTGGTCTTTGTTTGAAATGT
GCTCAGCATGAAGCTGTTCTTTCCCAAACCCATACTAATGTTCATATGCAGACCATCGAAAGACTGGTTAAAGAAAGAGATGACTTGATG
TCTGCACTAGTTTCCGTAAGGAGCAGCTTGGCAGATACGCAGCAAAGAGAAGCAAGTGCTTATGAACAGGTGAAACAAGTTTTGCAAATA
TCTGAGGAAGCCAATTTTGAAAAAACCAAGGCTTTAATCCAGTGTGACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAA
AAAGAACTTGCATCTCAGCAAGAGAAAAGGGCCATTGAGAAAGACATGATGAAAAAGGAAATAACGAAAGAAAGGGAGTACATGGGATCA
AAGATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAGGCCCAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTG
GAGGAAATTCAAAGCCAGCTGGCTTCTCGGGAAATGGATGTCACAAAGGTGTGTGGAGAAATGCGCTATCAGCTGAATAAAACCAACATG
GAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCAAAAACTAACAGGGATCTTGAAATTAAAGATCAGGAAATAGAGAAATTG
AGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAA
CTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAA
GCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTAT
TTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAA
ACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAG
GAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAG
CTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCC
AGCATGCCACAATCTGATTGCTGACCTGGATGGAACAGAGTGAAATAAATGATTTACAAAGAGATATTTACATTCATCTGGTTTAGACTT
AATATGCCACAACGCACCACGACCTTCCCAGGGTGACACCGCCTCAGCCTGCAGTGGGGCTGGTCCTCATCAACGCGGGCGCTGTCCCCG
CACGCAGTCGGGCTGGAGCTGGAGTCTGACTCTAGCTGAGCAGAGCTCCTGGTGTATGTTTTCAGAAATGGCTTGAAGTTATGTGTTTAA
ATCTGCTCATTCGTATGCTAGGTTATACATATGATTTTCAATAAATGAACTTTTTAAAGAC

>25299_25299_2_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366522_SDCCAG8_chr1_243449574_ENST00000366541_length(amino acids)=770AA_BP=197
MLGPGQVRLRPRVWRDKAGGRVADGASGLPPARGSWRETGTGRALGASSPPRPAQGSSSPGIQSGPSSRPGSPRGAEQAGTPRPRLSLGI
SQATGSAARWRTRRTGKGLGYNSDEIRPRTLLIEHLMEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIR
SLGCCPTEGELHDLIAEEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADF
GKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQ
TIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMM
KKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTN
RDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQQ
MEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRL
RQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC

--------------------------------------------------------------
>25299_25299_3_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366523_SDCCAG8_chr1_243449574_ENST00000355875_length(transcript)=2342nt_BP=448nt
GGGAGGCGGGCTGCGAATGGGAAGCGGGAGGAGGAGGCCGGGCCGCGGGCTGGTTCTATCACCCCCTTGGGAGCCCAGCTCTTCACCTAG
CTCTCCGGCGCTTTTCAAAATCTGCAGTTAACAACAAAAATCGAGCAACGCCACGTCGCACAAACAGGACAGGAGGGGGCGAGGGGCCAG
GCTCGCCGCGGGGCGCTGAGCAGGCCGGGACACCGCGGCCGAGGTTATCGTTAGGCATCTCCCAGGCGACCGGCTCCGCAGCAAGATGGC
GGACGAGAAGGACAGGGAAGAGATAATAGTAGCAGAATTTCACAAAAAAATCAAAGAGGCATTTGAAGTCTTTGACCATGAGTCGAATAA
TACAGTGGATGTGAGAGAGATTGGAACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGATCTGATTGCAGAGGA
GGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGGA
GACACTGAGGGAACAAACACTTCTGGATGCATCCGAGAAGCTAAAACTTACTTATGAGGAAAAGTGTGAAATTGAGGAATCCCAATTGAA
GTTTTTGAGGAACGACTTAGCTGAATATCAGAGAACTTGTGAAGATCTTAAAGAGCAACTAAAGCATAAAGAATTTCTTCTGGCTGCTAA
TACTTGTAACCGTGTTGGTGGTCTTTGTTTGAAATGTGCTCAGCATGAAGCTGTTCTTTCCCAAACCCATACTAATGTTCATATGCAGAC
CATCGAAAGACTGGTTAAAGAAAGAGATGACTTGATGTCTGCACTAGTTTCCGTAAGGAGCAGCTTGGCAGATACGCAGCAAAGAGAAGC
AAGTGCTTATGAACAGGTGAAACAAGTTTTGCAAATATCTGAGGAAGCCAATTTTGAAAAAACCAAGGCTTTAATCCAGTGTGACCAGTT
GAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAACTTGCATCTCAGCAAGAGAAAAGGGCCATTGAGAAAGACATGATGAA
AAAGGAAATAACGAAAGAAAGGGAGTACATGGGATCAAAGATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAGGCCCAGGTGGAAAA
GGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTGGAGGAAATTCAAAGCCAGCTGGCTTCTCGGGAAATGGATGTCACAAAGGTGTG
TGGAGAAATGCGCTATCAGCTGAATAAAACCAACATGGAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCAAAAACTAACAG
GGATCTTGAAATTAAAGATCAGGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGC
AGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAG
CATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAAT
GGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTG
TACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAA
ATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAG
GCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCT
GTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGACCTGGATGGAACAGAGTGAAATAAATGAT
TTACAAAGAGATATTTACATTCATCTGGTTTAGACTTAATATGCCACAACGCACCACGACCTTCCCAGGGTGACACCGCCTCAGCCTGCA
GTGGGGCTGGTCCTCATCAACGCGGGCGCTGTCCCCGCACGCAGTCGGGCTGGAGCTGGAGTCTGACTCTAGCTGAGCAGAGCTCCTGGT
GTATGTTTTCAGAAATGGCTTGAAGTTATGTGTTTAAATCTGCTCATTCGTATGCTAGGTTATACATATGATTTTCAATAAATGAACTTT
TT

>25299_25299_3_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366523_SDCCAG8_chr1_243449574_ENST00000355875_length(amino acids)=591AA_BP=61
MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEEELSGMKNKIQVVVLENEGLQQQLKSQRQ
EETLREQTLLDASEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHM
QTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDM
MKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKT
NRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQ
QMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQR
LRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC

--------------------------------------------------------------
>25299_25299_4_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366523_SDCCAG8_chr1_243449574_ENST00000366541_length(transcript)=2477nt_BP=448nt
GGGAGGCGGGCTGCGAATGGGAAGCGGGAGGAGGAGGCCGGGCCGCGGGCTGGTTCTATCACCCCCTTGGGAGCCCAGCTCTTCACCTAG
CTCTCCGGCGCTTTTCAAAATCTGCAGTTAACAACAAAAATCGAGCAACGCCACGTCGCACAAACAGGACAGGAGGGGGCGAGGGGCCAG
GCTCGCCGCGGGGCGCTGAGCAGGCCGGGACACCGCGGCCGAGGTTATCGTTAGGCATCTCCCAGGCGACCGGCTCCGCAGCAAGATGGC
GGACGAGAAGGACAGGGAAGAGATAATAGTAGCAGAATTTCACAAAAAAATCAAAGAGGCATTTGAAGTCTTTGACCATGAGTCGAATAA
TACAGTGGATGTGAGAGAGATTGGAACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGATCTGATTGCAGAGGA
GGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACAAGAGGA
GACACTGAGGGAACAAACACTTCTGGATGCATCCGGAAACATGCACAATTCTTGGATTACAACAGGTGAAGATTCTGGGGTGGGCGAAAC
CTCCAAAAGACCATTTTCCCATGACAATGCAGATTTTGGCAAAGCTGCATCTGCTGGTGAGCAGCTAGAACTGGAGAAGCTAAAACTTAC
TTATGAGGAAAAGTGTGAAATTGAGGAATCCCAATTGAAGTTTTTGAGGAACGACTTAGCTGAATATCAGAGAACTTGTGAAGATCTTAA
AGAGCAACTAAAGCATAAAGAATTTCTTCTGGCTGCTAATACTTGTAACCGTGTTGGTGGTCTTTGTTTGAAATGTGCTCAGCATGAAGC
TGTTCTTTCCCAAACCCATACTAATGTTCATATGCAGACCATCGAAAGACTGGTTAAAGAAAGAGATGACTTGATGTCTGCACTAGTTTC
CGTAAGGAGCAGCTTGGCAGATACGCAGCAAAGAGAAGCAAGTGCTTATGAACAGGTGAAACAAGTTTTGCAAATATCTGAGGAAGCCAA
TTTTGAAAAAACCAAGGCTTTAATCCAGTGTGACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAACTTGCATC
TCAGCAAGAGAAAAGGGCCATTGAGAAAGACATGATGAAAAAGGAAATAACGAAAGAAAGGGAGTACATGGGATCAAAGATGTTGATCTT
GTCTCAGAATATTGCCCAACTGGAGGCCCAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTGGAGGAAATTCAAAG
CCAGCTGGCTTCTCGGGAAATGGATGTCACAAAGGTGTGTGGAGAAATGCGCTATCAGCTGAATAAAACCAACATGGAGAAGGATGAGGC
AGAAAAGGAGCACAGAGAGTTCAGAGCAAAAACTAACAGGGATCTTGAAATTAAAGATCAGGAAATAGAGAAATTGAGAATAGAACTGGA
TGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATC
TGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCA
GCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTC
CCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAAT
AGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCA
GCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCT
CAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATC
TGATTGCTGACCTGGATGGAACAGAGTGAAATAAATGATTTACAAAGAGATATTTACATTCATCTGGTTTAGACTTAATATGCCACAACG
CACCACGACCTTCCCAGGGTGACACCGCCTCAGCCTGCAGTGGGGCTGGTCCTCATCAACGCGGGCGCTGTCCCCGCACGCAGTCGGGCT
GGAGCTGGAGTCTGACTCTAGCTGAGCAGAGCTCCTGGTGTATGTTTTCAGAAATGGCTTGAAGTTATGTGTTTAAATCTGCTCATTCGT
ATGCTAGGTTATACATATGATTTTCAATAAATGAACTTTTTAAAGAC

>25299_25299_4_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000366523_SDCCAG8_chr1_243449574_ENST00000366541_length(amino acids)=634AA_BP=61
MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEEELSGMKNKIQVVVLENEGLQQQLKSQRQ
EETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCED
LKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEE
ANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEI
QSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLG
ESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRS
EIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMP
QSDC

--------------------------------------------------------------
>25299_25299_5_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000447569_SDCCAG8_chr1_243449574_ENST00000355875_length(transcript)=2169nt_BP=275nt
AGGCCAGGCTCGCCGCGGGGCGCTGAGCAGGCCGGGACACCGCGGCCGAGGTTATCGTTAGGCATCTCCCAGGCGACCGGCTCCGCAGCA
AGATGGCGGACGAGAAGGACAGGGAAGAGATAATAGTAGCAGAATTTCACAAAAAAATCAAAGAGGCATTTGAAGTCTTTGACCATGAGT
CGAATAATACAGTGGATGTGAGAGAGATTGGAACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGATCTGATTG
CAGAGGAGGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGAC
AAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCCGAGAAGCTAAAACTTACTTATGAGGAAAAGTGTGAAATTGAGGAATCCC
AATTGAAGTTTTTGAGGAACGACTTAGCTGAATATCAGAGAACTTGTGAAGATCTTAAAGAGCAACTAAAGCATAAAGAATTTCTTCTGG
CTGCTAATACTTGTAACCGTGTTGGTGGTCTTTGTTTGAAATGTGCTCAGCATGAAGCTGTTCTTTCCCAAACCCATACTAATGTTCATA
TGCAGACCATCGAAAGACTGGTTAAAGAAAGAGATGACTTGATGTCTGCACTAGTTTCCGTAAGGAGCAGCTTGGCAGATACGCAGCAAA
GAGAAGCAAGTGCTTATGAACAGGTGAAACAAGTTTTGCAAATATCTGAGGAAGCCAATTTTGAAAAAACCAAGGCTTTAATCCAGTGTG
ACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAACTTGCATCTCAGCAAGAGAAAAGGGCCATTGAGAAAGACA
TGATGAAAAAGGAAATAACGAAAGAAAGGGAGTACATGGGATCAAAGATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAGGCCCAGG
TGGAAAAGGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTGGAGGAAATTCAAAGCCAGCTGGCTTCTCGGGAAATGGATGTCACAA
AGGTGTGTGGAGAAATGCGCTATCAGCTGAATAAAACCAACATGGAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCAAAAA
CTAACAGGGATCTTGAAATTAAAGATCAGGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGC
AGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAA
AAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATAC
AGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAG
AATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACAT
ATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAA
GGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGC
AGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGACCTGGATGGAACAGAGTGAAAT
AAATGATTTACAAAGAGATATTTACATTCATCTGGTTTAGACTTAATATGCCACAACGCACCACGACCTTCCCAGGGTGACACCGCCTCA
GCCTGCAGTGGGGCTGGTCCTCATCAACGCGGGCGCTGTCCCCGCACGCAGTCGGGCTGGAGCTGGAGTCTGACTCTAGCTGAGCAGAGC
TCCTGGTGTATGTTTTCAGAAATGGCTTGAAGTTATGTGTTTAAATCTGCTCATTCGTATGCTAGGTTATACATATGATTTTCAATAAAT
GAACTTTTT

>25299_25299_5_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000447569_SDCCAG8_chr1_243449574_ENST00000355875_length(amino acids)=591AA_BP=61
MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEEELSGMKNKIQVVVLENEGLQQQLKSQRQ
EETLREQTLLDASEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHM
QTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDM
MKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKT
NRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQ
QMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQR
LRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC

--------------------------------------------------------------
>25299_25299_6_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000447569_SDCCAG8_chr1_243449574_ENST00000366541_length(transcript)=2304nt_BP=275nt
AGGCCAGGCTCGCCGCGGGGCGCTGAGCAGGCCGGGACACCGCGGCCGAGGTTATCGTTAGGCATCTCCCAGGCGACCGGCTCCGCAGCA
AGATGGCGGACGAGAAGGACAGGGAAGAGATAATAGTAGCAGAATTTCACAAAAAAATCAAAGAGGCATTTGAAGTCTTTGACCATGAGT
CGAATAATACAGTGGATGTGAGAGAGATTGGAACAATTATCAGGTCATTAGGATGCTGTCCTACGGAAGGAGAGCTGCATGATCTGATTG
CAGAGGAGGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGAC
AAGAGGAGACACTGAGGGAACAAACACTTCTGGATGCATCCGGAAACATGCACAATTCTTGGATTACAACAGGTGAAGATTCTGGGGTGG
GCGAAACCTCCAAAAGACCATTTTCCCATGACAATGCAGATTTTGGCAAAGCTGCATCTGCTGGTGAGCAGCTAGAACTGGAGAAGCTAA
AACTTACTTATGAGGAAAAGTGTGAAATTGAGGAATCCCAATTGAAGTTTTTGAGGAACGACTTAGCTGAATATCAGAGAACTTGTGAAG
ATCTTAAAGAGCAACTAAAGCATAAAGAATTTCTTCTGGCTGCTAATACTTGTAACCGTGTTGGTGGTCTTTGTTTGAAATGTGCTCAGC
ATGAAGCTGTTCTTTCCCAAACCCATACTAATGTTCATATGCAGACCATCGAAAGACTGGTTAAAGAAAGAGATGACTTGATGTCTGCAC
TAGTTTCCGTAAGGAGCAGCTTGGCAGATACGCAGCAAAGAGAAGCAAGTGCTTATGAACAGGTGAAACAAGTTTTGCAAATATCTGAGG
AAGCCAATTTTGAAAAAACCAAGGCTTTAATCCAGTGTGACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAAC
TTGCATCTCAGCAAGAGAAAAGGGCCATTGAGAAAGACATGATGAAAAAGGAAATAACGAAAGAAAGGGAGTACATGGGATCAAAGATGT
TGATCTTGTCTCAGAATATTGCCCAACTGGAGGCCCAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTGGAGGAAA
TTCAAAGCCAGCTGGCTTCTCGGGAAATGGATGTCACAAAGGTGTGTGGAGAAATGCGCTATCAGCTGAATAAAACCAACATGGAGAAGG
ATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCAAAAACTAACAGGGATCTTGAAATTAAAGATCAGGAAATAGAGAAATTGAGAATAG
AACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGG
GCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTC
AGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGC
TGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGAT
CTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGT
GTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGC
AGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGC
CACAATCTGATTGCTGACCTGGATGGAACAGAGTGAAATAAATGATTTACAAAGAGATATTTACATTCATCTGGTTTAGACTTAATATGC
CACAACGCACCACGACCTTCCCAGGGTGACACCGCCTCAGCCTGCAGTGGGGCTGGTCCTCATCAACGCGGGCGCTGTCCCCGCACGCAG
TCGGGCTGGAGCTGGAGTCTGACTCTAGCTGAGCAGAGCTCCTGGTGTATGTTTTCAGAAATGGCTTGAAGTTATGTGTTTAAATCTGCT
CATTCGTATGCTAGGTTATACATATGATTTTCAATAAATGAACTTTTTAAAGAC

>25299_25299_6_EFCAB2-SDCCAG8_EFCAB2_chr1_245222760_ENST00000447569_SDCCAG8_chr1_243449574_ENST00000366541_length(amino acids)=634AA_BP=61
MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEEELSGMKNKIQVVVLENEGLQQQLKSQRQ
EETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCED
LKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEE
ANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEI
QSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLG
ESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRS
EIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMP
QSDC

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

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Fusion Gene PPI Analysis for EFCAB2-SDCCAG8


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


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 EFCAB2-SDCCAG8


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 EFCAB2-SDCCAG8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC3150877SENIOR-LOKEN SYNDROME 73GENOMICS_ENGLAND
TgeneC3889474BARDET-BIEDL SYNDROME 163CTD_human;GENOMICS_ENGLAND
TgeneC0403553Renal dysplasia and retinal aplasia (disorder)2GENOMICS_ENGLAND;ORPHANET
TgeneC0752166Bardet-Biedl Syndrome2GENOMICS_ENGLAND;ORPHANET
TgeneC0022679Cystic kidney1CTD_human
TgeneC0035309Retinal Diseases1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC1691228Cystic Kidney Diseases1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND