Fusion Gene Studies
in Kim Lab

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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:ELF1-VWA8 (FusionGDB2 ID:HG1997TG23078)

Fusion Gene Summary for ELF1-VWA8

check button Fusion gene summary
Fusion gene informationFusion gene name: ELF1-VWA8
Fusion gene ID: hg1997tg23078
HgeneTgene
Gene symbol

ELF1

VWA8

Gene ID

1997

23078

Gene nameE74 like ETS transcription factor 1von Willebrand factor A domain containing 8
SynonymsEFTUD1|RIA1KIAA0564|P7BP2
Cytomap('ELF1','ELF1')('KIAA0564','VWA8')

13q14.11

13q14.11

Type of geneprotein-codingprotein-coding
DescriptionETS-related transcription factor Elf-1E74-like factor 1 (ets domain transcription factor)von Willebrand factor A domain-containing protein 8PEX7-binding protein 2
Modification date2020031320200313
UniProtAcc

P32519

.
Ensembl transtripts involved in fusion geneENST00000239882, ENST00000442101, 
ENST00000498824, 
Fusion gene scores* DoF score18 X 11 X 6=11886 X 6 X 6=216
# samples 176
** MAII scorelog2(17/1188*10)=-2.80492818466306
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/216*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELF1 [Title/Abstract] AND VWA8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELF1(41556119)-KIAA0564(42465723), # samples:1
ELF1(41556119)-VWA8(42465723), # samples:1
Anticipated loss of major functional domain due to fusion event.ELF1-VWA8 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.
ELF1-VWA8 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.
ELF1-VWA8 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.
ELF1-VWA8 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
HgeneELF1

GO:0045893

positive regulation of transcription, DNA-templated

19674970

HgeneELF1

GO:0045944

positive regulation of transcription by RNA polymerase II

8756667|14970218|19674970


check buttonFusion gene breakpoints across ELF1 (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 VWA8 (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
ChimerDB4BLCATCGA-4Z-AA80-01AELF1chr13

41556119

-KIAA0564chr13

42465723

-
ChimerDB4BLCATCGA-4Z-AA80-01AELF1chr13

41556119

-VWA8chr13

42465723

-


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Fusion Gene ORF analysis for ELF1-VWA8

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
5CDS-intronENST00000239882ENST00000478987ELF1chr13

41556119

-VWA8chr13

42465723

-
5CDS-intronENST00000442101ENST00000478987ELF1chr13

41556119

-VWA8chr13

42465723

-
5UTR-3CDSENST00000498824ENST00000281496ELF1chr13

41556119

-VWA8chr13

42465723

-
5UTR-3CDSENST00000498824ENST00000379310ELF1chr13

41556119

-VWA8chr13

42465723

-
5UTR-intronENST00000498824ENST00000478987ELF1chr13

41556119

-VWA8chr13

42465723

-
In-frameENST00000239882ENST00000281496ELF1chr13

41556119

-VWA8chr13

42465723

-
In-frameENST00000239882ENST00000379310ELF1chr13

41556119

-VWA8chr13

42465723

-
In-frameENST00000442101ENST00000281496ELF1chr13

41556119

-VWA8chr13

42465723

-
In-frameENST00000442101ENST00000379310ELF1chr13

41556119

-VWA8chr13

42465723

-

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)
ENST00000442101ELF1chr1341556119-ENST00000379310VWA8chr1342465723-689530022855341768
ENST00000442101ELF1chr1341556119-ENST00000281496VWA8chr1342465723-31873002282936902
ENST00000239882ELF1chr1341556119-ENST00000379310VWA8chr1342465723-698238731556211768
ENST00000239882ELF1chr1341556119-ENST00000281496VWA8chr1342465723-32743873153023902

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
ENST00000442101ENST00000379310ELF1chr1341556119-VWA8chr1342465723-0.0002704120.9997296
ENST00000442101ENST00000281496ELF1chr1341556119-VWA8chr1342465723-0.0003690350.9996309
ENST00000239882ENST00000379310ELF1chr1341556119-VWA8chr1342465723-0.0002937190.9997062
ENST00000239882ENST00000281496ELF1chr1341556119-VWA8chr1342465723-0.0003441820.99965584

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Fusion Genomic Features for ELF1-VWA8


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)

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

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Fusion Protein Features for ELF1-VWA8


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/chr13:41556119/chr13:42465723)
- 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
ELF1

P32519

.
FUNCTION: Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer. {ECO:0000269|PubMed:8756667}.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
TgeneVWA8chr13:41556119chr13:42465723ENST000002814963261714_18961611040.0DomainVWFA
TgeneVWA8chr13:41556119chr13:42465723ENST000003793103451714_18961611906.0DomainVWFA
TgeneVWA8chr13:41556119chr13:42465723ENST00000281496326447_4541611040.0Nucleotide bindingATP
TgeneVWA8chr13:41556119chr13:42465723ENST00000379310345447_4541611906.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneELF1chr13:41556119chr13:42465723ENST00000239882-2975_8024620.0Compositional biasNote=Poly-Asp
HgeneELF1chr13:41556119chr13:42465723ENST00000442101-1875_8024596.0Compositional biasNote=Poly-Asp
HgeneELF1chr13:41556119chr13:42465723ENST00000239882-29208_29024620.0DNA bindingETS
HgeneELF1chr13:41556119chr13:42465723ENST00000442101-18208_29024596.0DNA bindingETS


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Fusion Gene Sequence for ELF1-VWA8


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.
>26163_26163_1_ELF1-VWA8_ELF1_chr13_41556119_ENST00000239882_VWA8_chr13_42465723_ENST00000281496_length(transcript)=3274nt_BP=387nt
TCTACAGGAGCCATTTTAACAGCTAAAACTTGTCGGATTGCTTTTTATTTTCAAGCTCAAAAGACGATAGAGAAAGAATACTTGAAGGCC
AAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAA
AGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAAT
CTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCT
AGTAACGTCATGGAGGATGAACGACAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAGGCAGAG
AGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAGCGTTAC
GACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGC
TTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAG
GACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCC
CAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCA
ATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTT
GAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCTTCTGTG
ACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGTTTCATA
CAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGTTGTGGA
AAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGATATGACAGCGCGTGATCTG
CTACAGCAGAGATACACCCTTCCAAATGGAGACACTGCCTGGCGGTCCTCACCCCTTGTGAATGCTGCTCTGGAAGGCAAGCTGGTCCTG
CTGGATGGCATTCACCGGGTGAATGCGGGCACGCTTGCTGTATTGCAAAGGTTAATCCATGATCGAGAGCTAAGCCTCTATGATGGTTCT
AGGCTGCTGAGAGAAGACAGGTATATGCGTTTAAAGGAGGAGCTGCAACTGTCTGATGAACAGCTACAGAAGAGATCCATTTTTCCTATC
CATCCCTCCTTCAGAATCATTGCCTTGGCAGAACCCCCTGTTATTGGAAGCACAGCACACCAGTGGCTGGGACCAGAATTCTTAACCATG
TTCTTTTTCCATTACATGAAACCACTTGTGAAAAGTGAAGAAATCCAAGTGATTAAGGAAAAGGTCCCAAATGTACCTCAGGAAGCTCTG
GATAAGTTATTATCATTTACACACAAACTCAGAGAAACACAGGATCCAACGGCACAATCATTAGCGGCATCACTTTCTACCAGACAACTG
TTGCGAATTTCTCGTCGGCTGTCACAGTATCCTAATGAAAATCTTCACAGTGCTGTTACTAAAGCCTGCCTTTCCAGGTTTTTACCCAGT
CTTGCTAGGTCAGCATTAGAAAAAAATCTGGCAGATGCTACAATAGAAATAAATACTGATGACAATTTGGAGCCAGAACTGAAGGATTAC
AAATGTGAAGTAACATCTGGAACTCTGAGGATTGGTGCTGTTAGTGCACCGATCTATAATGCACATGAGAAAATGAAAGTGCCTGATGTT
CTTTTCTATGACAACATTCAGCATGTGATAGTGATGGAAGATATGCTGAAAGACTTTCTCCTTGGAGAACACTTATTATTGGTTGGCAAC
CAGGGTGTAGGAAAAAACAAGATTGTTGACAGATTCCTTCACCTGCTCAACAGACCCCGAGAATATATTCAGCTACACAGGGATACCACA
GTACAAACTCTTACGCTTCAGCCTTCGGTTAAAGACGGACTTATTGTATATGAAGACTCACCTTTGGTTAAAGCAGTAAAGTTGGGTCAT
ATTCTGGTAGTAGATGAGGCTGACAAAGCTCCAACAAATGTCACGTGTATTTTAAAAACTCTAGTAGAAAATGGAGAAATGATTCTAGCA
GATGGAAGACGCATTGTTGCAAATTCTGCTAATGTGAATGGAAGAGAAAATGTTGTAGTGATTCATCCTGATTTTAGGATGATTGTTCTG
GCAAATAGACCTGGATTTCCTTTCCTAGGCAATGATTTCTTCGGTACCTTAGGTGATATTTTTAGCTGCCATGCAGTTGATAACCCCAAA
CCCCACTCGGAGCTCGAGATGCTCAGACAGTATGGACCAAATGTGCCTGAGCCCATCCTTCAGAAGCTTGTGGCTGCCTTTGGAGAGCTG
AGGAGTTTGGCTGACCAAGGGATTATTAACTATCCTTATTCTACCAGAGAAGTTGTCAACATAGTCAAACATTTACAGAAATTTCCGACT
GAAGGTCTCTCCAGTGTAGTTCGAAATGTGTTTGACTTTGATTCCTACAACAATGACATGAGGGAGATATTGATTAACACTTTACACAAA
TACGGGATACCTATCGGAGCAAAGCCTACCAGTGTGCAGCTGGCAAAGGAGTAAGGCAAATTCAGTACTCTTCTGATTCTTAAATGCTGA
TAGTTCTTGATTTATCATTCCATTCTACAAAACTGAGTTGCTATGGAAATTACTTTCCATGAGTAAGCTTTTCAAATACATGTATATGTT
GCTGTTTGCTGGCTGCTTTTCAGTTAAATAGCATTATTTATAGGCCTGTAAATTGAAAATTTTGATTATTATGTATGTCCCATGAGTAGA

>26163_26163_1_ELF1-VWA8_ELF1_chr13_41556119_ENST00000239882_VWA8_chr13_42465723_ENST00000281496_length(amino acids)=902AA_BP=24
MAAVVQQNDLVFEFASNVMEDERQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSW
KIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDS
LAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPA
GTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWR
SSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVI
GSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENL
HSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDM
LKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVT
CILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNV
PEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLA

--------------------------------------------------------------
>26163_26163_2_ELF1-VWA8_ELF1_chr13_41556119_ENST00000239882_VWA8_chr13_42465723_ENST00000379310_length(transcript)=6982nt_BP=387nt
TCTACAGGAGCCATTTTAACAGCTAAAACTTGTCGGATTGCTTTTTATTTTCAAGCTCAAAAGACGATAGAGAAAGAATACTTGAAGGCC
AAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCCTAA
AGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTGAAT
CTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTTGCT
AGTAACGTCATGGAGGATGAACGACAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAGGCAGAG
AGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAGCGTTAC
GACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTGGGC
TTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTCAAG
GACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGTTCC
CAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATGCCA
ATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGCTTT
GAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCTTCTGTG
ACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGTTTCATA
CAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGTTGTGGA
AAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGATATGACAGCGCGTGATCTG
CTACAGCAGAGATACACCCTTCCAAATGGAGACACTGCCTGGCGGTCCTCACCCCTTGTGAATGCTGCTCTGGAAGGCAAGCTGGTCCTG
CTGGATGGCATTCACCGGGTGAATGCGGGCACGCTTGCTGTATTGCAAAGGTTAATCCATGATCGAGAGCTAAGCCTCTATGATGGTTCT
AGGCTGCTGAGAGAAGACAGGTATATGCGTTTAAAGGAGGAGCTGCAACTGTCTGATGAACAGCTACAGAAGAGATCCATTTTTCCTATC
CATCCCTCCTTCAGAATCATTGCCTTGGCAGAACCCCCTGTTATTGGAAGCACAGCACACCAGTGGCTGGGACCAGAATTCTTAACCATG
TTCTTTTTCCATTACATGAAACCACTTGTGAAAAGTGAAGAAATCCAAGTGATTAAGGAAAAGGTCCCAAATGTACCTCAGGAAGCTCTG
GATAAGTTATTATCATTTACACACAAACTCAGAGAAACACAGGATCCAACGGCACAATCATTAGCGGCATCACTTTCTACCAGACAACTG
TTGCGAATTTCTCGTCGGCTGTCACAGTATCCTAATGAAAATCTTCACAGTGCTGTTACTAAAGCCTGCCTTTCCAGGTTTTTACCCAGT
CTTGCTAGGTCAGCATTAGAAAAAAATCTGGCAGATGCTACAATAGAAATAAATACTGATGACAATTTGGAGCCAGAACTGAAGGATTAC
AAATGTGAAGTAACATCTGGAACTCTGAGGATTGGTGCTGTTAGTGCACCGATCTATAATGCACATGAGAAAATGAAAGTGCCTGATGTT
CTTTTCTATGACAACATTCAGCATGTGATAGTGATGGAAGATATGCTGAAAGACTTTCTCCTTGGAGAACACTTATTATTGGTTGGCAAC
CAGGGTGTAGGAAAAAACAAGATTGTTGACAGATTCCTTCACCTGCTCAACAGACCCCGAGAATATATTCAGCTACACAGGGATACCACA
GTACAAACTCTTACGCTTCAGCCTTCGGTTAAAGACGGACTTATTGTATATGAAGACTCACCTTTGGTTAAAGCAGTAAAGTTGGGTCAT
ATTCTGGTAGTAGATGAGGCTGACAAAGCTCCAACAAATGTCACGTGTATTTTAAAAACTCTAGTAGAAAATGGAGAAATGATTCTAGCA
GATGGAAGACGCATTGTTGCAAATTCTGCTAATGTGAATGGAAGAGAAAATGTTGTAGTGATTCATCCTGATTTTAGGATGATTGTTCTG
GCAAATAGACCTGGATTTCCTTTCCTAGGCAATGATTTCTTCGGTACCTTAGGTGATATTTTTAGCTGCCATGCAGTTGATAACCCCAAA
CCCCACTCGGAGCTCGAGATGCTCAGACAGTATGGACCAAATGTGCCTGAGCCCATCCTTCAGAAGCTTGTGGCTGCCTTTGGAGAGCTG
AGGAGTTTGGCTGACCAAGGGATTATTAACTATCCTTATTCTACCAGAGAAGTTGTCAACATAGTCAAACATTTACAGAAATTTCCGACT
GAAGGTCTCTCCAGTGTAGTTCGAAATGTGTTTGACTTTGATTCCTACAACAATGACATGAGGGAGATATTGATTAACACTTTACACAAA
TACGGGATACCTATCGGAGCAAAGCCTACCAGTGTGCAGCTGGCAAAGGAGTTGACTCTGCCAGAACAAACGTTCATGGGCTACTGGACA
ATTGGTCAGGCAAGAAGTGGGATGCAAAAACTCTTGTGTCCAGTGGAAACTCATCATATAGACATAAAGGGTCCAGCACTTATAAATATA
CAGGAGTATCCAATAGAAAGACATGAAGAAAGATCCCTAAACTTTACTGAAGAATGTGCCTCATGGAGAATACCATTGGATGAAATTAAT
ATAATCTGTGACATTGCTACATCACATGAAAATGAGCAAAATACTCTCTATGTAGTTACATGCAATCCCGCTTCCCTGTACTTTATGAAT
ATGACTGGGAAAAGTGGCTTCTTTGTGGACTTTTTTGATATCTTCCCAAGAACAGCCAATGGCGTTTGGCACCCTTTTGTGACAGTGGCA
CCGCTGGGAAGTCCTCTCAAAGGTCAAGTGGTTCTCCATGAGCAGCAGAGTAATGTTATCCTGTTGTTAGATACTACTGGCCGGGCCCTT
CATCGTCTCATCCTCCCTTCCGAGAAGTTTACATCTAAGAAACCTTTCTGGTGGAACAAAGAAGAAGCTGAAACTTATAAAATGTGTAAA
GAATTTTCACACAAAAACTGGCTGGTGTTCTACAAAGAAAAAGGGAACAGCCTGACTGTGCTGGATGTTCTAGAAGGGCGAACTCACACC
ATCTCACTTCCCATCAACCTCAAGACAGTTTTCCTTGTAGCAGAGGACAAATGGCTTCTGGTGGAGAGCAAAACAAATCAGAAATATCTT
TTAACTAAGCCTGCACACATCGAATCTGAGGGTAGTGGGGTTTGCCAGTTGTATGTGCTGAAAGAGGAGCCGCCCAGCACAGGGTTTGGA
GTTACACAAGAAACAGAGTTCAGCATACCTCATAAAATTTCCAGTGATCAACTATCATCTGAACATCTAAGTTCAGCTGTGGAACAAAAG
ATTGCCTCTCCCAACAGAATTCTCTCAGATGAGAAAAATTATGCTACAATAGTTGTTGGTTTTCCAGATCTCATGTCACCCAGTGAAGTT
TATTCTTGGAAGAGACCATCATCTTTGCATAAACGAAGTGGCACTGATACATCATTCTATAGAGGAAAGAAGAAAAGGGGGACTCCAAAA
CAAAGCAATTGTGTGACTCTTTTAGATACGAATCAGGTAGTGAGGATTTTACCCCCAGGAGAAGTCCCTCTAAAAGATATCTACCCAAAA
GATGTTACTCCTCCACAAACATCTGGTTATATAGAAGTCACTGATCTTCAATCAAAGAAACTCCGATATATCCCTATTCCCAGATCAGAA
TCTCTCTCGCCGTATACCACATGGCTGTCGACCATTTCAGACACAGATGCACTGCTGGCTGAGTGGGACAAAAGCGGTGTTGTTACTGTT
GATATGGGAGGTCACATCAGGCTTTGGGAAACTGGACTTGAACGTCTGCAGCGATCACTCATGGAATGGAGAAACATGATTGGACAAGAT
GACAGAAATATGCAGATAACAATCAACAGAGACAGTGGTGAAGATGTAAGCTCCCCCAAACACGGGAAGGAGGACCCAGACAACATGCCT
CACGTGGGCGGCAACACTTGGGCTGGCGGAACAGGGGGAAGAGACACGGCAGGCCTGGGTGGCAAAGGAGGCCCTTACCGGCTGGATGCA
GGCCATACGGTGTACCAGGTCTCTCAGGCTGAGAAAGATGCAGTTCCCGAAGAGGTCAAGAGAGCTGCTAGAGAGATGGGCCAGAGAGCA
TTCCAGCAGAGGCTAAAGGAGATCCAAATGAGTGAATACGATGCTGCAACCTATGAAAGGTTTTCAGGTGCTGTTCGGCGACAGGTGCAC
TCCCTCCGAATCATCCTGGATAATTTACAGGCTAAAGGTAAAGAAAGACAATGGCTAAGACATCAAGCTACTGGAGAATTAGATGATGCC
AAGATCATTGATGGGCTGACTGGAGAAAAAGCCATCTACAAACGTCGGGGTGAGCTGGAGCCACAACTTGGCAGCCCACAACAGAAACCC
AAGCGTCTGCGCCTGGTGGTAGATGTGTCTGGTAGCATGTACCGTTTCAACAGGATGGATGGCCGGCTTGAGCGCACAATGGAGGCTGTG
TGTATGGTCATGGAAGCCTTCGAGAACTATGAGGAGAAGTTCCAGTATGACATCGTTGGACACTCTGGAGATGGCTACAACATTGGTCTG
GTTCCAATGAACAAAATCCCCAAGGACAATAAGCAAAGACTAGAAATTCTGAAGACAATGCATGCCCACTCTCAGTTCTGCATGAGTGGG
GACCACACGTTAGAAGGGACAGAACATGCCATCAAGGAAATTGTCAAAGAAGAAGCTGATGAGTACTTTGTCATAGTCTTGAGTGATGCA
AATCTGTCACGATATGGAATACATCCTGCTAAGTTTGCTCAAATCCTCACAAGAGACCCTCAAGTAAATGCTTTTGCCATTTTTATTGGC
TCTTTAGGTGATCAAGCAACCAGGCTTCAGAGAACTTTACCAGCTGGTCGGTCTTTCGTTGCCATGGATACCAAGGATATCCCTCAGATT
TTACAACAGATCTTCACCTCCACCATGTTGTCGAGTGTCTAAGAAGTGCCCTTCATCACCCTGATGACACCAGGATTTGAAATAAGACAG
GAATAAAGAGTATTCTGAAAAAAAGAAGATATGGATGAAGTGAACCCATGCAGTGACTGGATGATTCCGGCATTCCTGGGTCTTCCTACA
CTTGCTCCGTAATGAGAATTCAGAGAAGCAGCCAGAAGGAGACTTAAACATGGAAAGATACTCCACTGATGAGTTTAGAAGTGATTAGGG
CAAGCTAGTTGACCTGCACTTTATCAAAGGTTGGGGTTAAAGGAAGGTGGTTTTGAGAACTATGTGTTTGGTCTATTTCCAAAAACCTGA
GGGGGAGAAAATACTTTGCTTTTGCCTTAACACATCATCTGGTCACGTTAGAAAAGTGACCCCATCAAACTGAGCCTTTGATGTCACATT
CTGACACAAGATGCAAGTCTGTGCAAAACCCACCAAAATGCTCCTATCCAACAATTATTTTTATTTTCTCCCTGCTCTGTATTGACCAGA
AAACAATGATTTTATAATATTTAACCCACCAAAAAGTCCCTCCAACAGCAATATCTTATGAAAGTCTGGCTGTTCTCAATAATTTCATTT
TCTTGGCCAAAGCCAAAAGGAATCAAAAAATCCTTGGAGTGCTTGCCTTTCCACGTGACTTTTAAAAGGCTCTTAAAGAGCAAATGTCCT
CTTCTCCTTGCTGCTAGAGTGGGAGGAGAAAGATGTCTTGCCTTAAAAGTTTACTGTTTCTTCTGTTCTTCTAGCATCTCTCAAAAAATT
CACAGTACTCCATTTTGGGGTCCAAACTGTAATGCTCAAAATAATAAATGCTTACACGAAAATTATTTATTGAGAATATTCATATAAAAA
TTACCTAAAGCAAAGTAAAAAAAGTAAAATCAAGGTGGTATATTTGAAGTGAATGGTGATTGGAAATTTTTAGCTGTAACAAAAAGAAAG
AAAACAACTTTTTTTAAAGCCTCATTCTCTTTTCTTTCAAAATGTACCTTATTCCCACACACTCTTGGGCTGACCTTTATTTTATCAATA
AGCTCAATATTACTTTGTTTAAAATAAGATGCTTCAGCAAAAGTCATTCTCTCTTTAACCATATAATTTAAAAACTCCTCTTCACGATTG
ATAGCAAAATCAGAAACGTTAGGGCACCAGTGAGTTGAAAAAACTGGTCTTAAGTTGGAAAAACTATTATTAATAATATTATCCTATCCA
TCCATATCTATTGAAATTGTACAGGTCCATAATTTCATTTTAATTAATTATAGGAAAGAAGAAAAGATAATACCCATTTGTTCTATCACC

>26163_26163_2_ELF1-VWA8_ELF1_chr13_41556119_ENST00000239882_VWA8_chr13_42465723_ENST00000379310_length(amino acids)=1768AA_BP=24
MAAVVQQNDLVFEFASNVMEDERQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSW
KIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDS
LAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPA
GTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWR
SSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVI
GSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENL
HSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDM
LKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVT
CILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNV
PEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLA
KELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNT
LYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKP
FWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVC
QLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGT
DTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDT
DALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRD
TAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKE
RQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQ
YDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQI

--------------------------------------------------------------
>26163_26163_3_ELF1-VWA8_ELF1_chr13_41556119_ENST00000442101_VWA8_chr13_42465723_ENST00000281496_length(transcript)=3187nt_BP=300nt
GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCC
TAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG
AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTT
GCTAGTAACGTCATGGAGGATGAACGACAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAGGCA
GAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAGCGT
TACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTG
GGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTC
AAGGACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGT
TCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATG
CCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGC
TTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCTTCT
GTGACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGTTTC
ATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGTTGT
GGAAAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGATATGACAGCGCGTGAT
CTGCTACAGCAGAGATACACCCTTCCAAATGGAGACACTGCCTGGCGGTCCTCACCCCTTGTGAATGCTGCTCTGGAAGGCAAGCTGGTC
CTGCTGGATGGCATTCACCGGGTGAATGCGGGCACGCTTGCTGTATTGCAAAGGTTAATCCATGATCGAGAGCTAAGCCTCTATGATGGT
TCTAGGCTGCTGAGAGAAGACAGGTATATGCGTTTAAAGGAGGAGCTGCAACTGTCTGATGAACAGCTACAGAAGAGATCCATTTTTCCT
ATCCATCCCTCCTTCAGAATCATTGCCTTGGCAGAACCCCCTGTTATTGGAAGCACAGCACACCAGTGGCTGGGACCAGAATTCTTAACC
ATGTTCTTTTTCCATTACATGAAACCACTTGTGAAAAGTGAAGAAATCCAAGTGATTAAGGAAAAGGTCCCAAATGTACCTCAGGAAGCT
CTGGATAAGTTATTATCATTTACACACAAACTCAGAGAAACACAGGATCCAACGGCACAATCATTAGCGGCATCACTTTCTACCAGACAA
CTGTTGCGAATTTCTCGTCGGCTGTCACAGTATCCTAATGAAAATCTTCACAGTGCTGTTACTAAAGCCTGCCTTTCCAGGTTTTTACCC
AGTCTTGCTAGGTCAGCATTAGAAAAAAATCTGGCAGATGCTACAATAGAAATAAATACTGATGACAATTTGGAGCCAGAACTGAAGGAT
TACAAATGTGAAGTAACATCTGGAACTCTGAGGATTGGTGCTGTTAGTGCACCGATCTATAATGCACATGAGAAAATGAAAGTGCCTGAT
GTTCTTTTCTATGACAACATTCAGCATGTGATAGTGATGGAAGATATGCTGAAAGACTTTCTCCTTGGAGAACACTTATTATTGGTTGGC
AACCAGGGTGTAGGAAAAAACAAGATTGTTGACAGATTCCTTCACCTGCTCAACAGACCCCGAGAATATATTCAGCTACACAGGGATACC
ACAGTACAAACTCTTACGCTTCAGCCTTCGGTTAAAGACGGACTTATTGTATATGAAGACTCACCTTTGGTTAAAGCAGTAAAGTTGGGT
CATATTCTGGTAGTAGATGAGGCTGACAAAGCTCCAACAAATGTCACGTGTATTTTAAAAACTCTAGTAGAAAATGGAGAAATGATTCTA
GCAGATGGAAGACGCATTGTTGCAAATTCTGCTAATGTGAATGGAAGAGAAAATGTTGTAGTGATTCATCCTGATTTTAGGATGATTGTT
CTGGCAAATAGACCTGGATTTCCTTTCCTAGGCAATGATTTCTTCGGTACCTTAGGTGATATTTTTAGCTGCCATGCAGTTGATAACCCC
AAACCCCACTCGGAGCTCGAGATGCTCAGACAGTATGGACCAAATGTGCCTGAGCCCATCCTTCAGAAGCTTGTGGCTGCCTTTGGAGAG
CTGAGGAGTTTGGCTGACCAAGGGATTATTAACTATCCTTATTCTACCAGAGAAGTTGTCAACATAGTCAAACATTTACAGAAATTTCCG
ACTGAAGGTCTCTCCAGTGTAGTTCGAAATGTGTTTGACTTTGATTCCTACAACAATGACATGAGGGAGATATTGATTAACACTTTACAC
AAATACGGGATACCTATCGGAGCAAAGCCTACCAGTGTGCAGCTGGCAAAGGAGTAAGGCAAATTCAGTACTCTTCTGATTCTTAAATGC
TGATAGTTCTTGATTTATCATTCCATTCTACAAAACTGAGTTGCTATGGAAATTACTTTCCATGAGTAAGCTTTTCAAATACATGTATAT
GTTGCTGTTTGCTGGCTGCTTTTCAGTTAAATAGCATTATTTATAGGCCTGTAAATTGAAAATTTTGATTATTATGTATGTCCCATGAGT

>26163_26163_3_ELF1-VWA8_ELF1_chr13_41556119_ENST00000442101_VWA8_chr13_42465723_ENST00000281496_length(amino acids)=902AA_BP=24
MAAVVQQNDLVFEFASNVMEDERQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSW
KIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDS
LAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPA
GTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWR
SSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVI
GSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENL
HSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDM
LKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVT
CILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNV
PEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLA

--------------------------------------------------------------
>26163_26163_4_ELF1-VWA8_ELF1_chr13_41556119_ENST00000442101_VWA8_chr13_42465723_ENST00000379310_length(transcript)=6895nt_BP=300nt
GCCAAGAAGCTTGAGAGAAGAAAAATTTCAGAAAAATTGTCTCAATTTGACTAGAATATCAATGAACCAGGAAAACTGAAGCACCTTCCC
TAAAGAAAACTTGGGTATACAATTACTCCACAGACAGAGCTGAGGGTTTTTTACCCAAATCAGTCACTGGATTTTGCTGCCTGATACGTG
AATCTTCTTGGAATTTTTCTCATGTGGATCTAAGGGGAATGCTTTATTATGGCTGCTGTTGTCCAACAGAACGACCTAGTATTTGAATTT
GCTAGTAACGTCATGGAGGATGAACGACAGTGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAGGCA
GAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTTGAAGATGGACGCTTCCTGATGTCTGCTGAGCGT
TACGACAAACTTCTCCGAGATCATACCAAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCCTTG
GGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGATTTCAAGCCAGGGATATTTATTATTTACCCTTC
AAGGACCAACTTAAGTTGTTATATTCAATTGGAGCCAATGTTTCTGCTGAGAAAGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTGTGT
TCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCTGCGGTTCAAATCTTGGATTCCTTTCCTATGATG
CCAATCAAACATGCAATCCAGTGGCTTTATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAGCGC
TTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAGAAGATGATGGAAAACCATGTGTCCCAAGCTTCT
GTGACCATCCGGATTGCAGATAAAGAGGTGACCATTAAGGTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGTTTC
ATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTTAAAGATATATGTTTAATTGGAGGAAAGGGTTGT
GGAAAAACAGTGATCGCTAAGAACTTTGCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAGGATATGACAGCGCGTGAT
CTGCTACAGCAGAGATACACCCTTCCAAATGGAGACACTGCCTGGCGGTCCTCACCCCTTGTGAATGCTGCTCTGGAAGGCAAGCTGGTC
CTGCTGGATGGCATTCACCGGGTGAATGCGGGCACGCTTGCTGTATTGCAAAGGTTAATCCATGATCGAGAGCTAAGCCTCTATGATGGT
TCTAGGCTGCTGAGAGAAGACAGGTATATGCGTTTAAAGGAGGAGCTGCAACTGTCTGATGAACAGCTACAGAAGAGATCCATTTTTCCT
ATCCATCCCTCCTTCAGAATCATTGCCTTGGCAGAACCCCCTGTTATTGGAAGCACAGCACACCAGTGGCTGGGACCAGAATTCTTAACC
ATGTTCTTTTTCCATTACATGAAACCACTTGTGAAAAGTGAAGAAATCCAAGTGATTAAGGAAAAGGTCCCAAATGTACCTCAGGAAGCT
CTGGATAAGTTATTATCATTTACACACAAACTCAGAGAAACACAGGATCCAACGGCACAATCATTAGCGGCATCACTTTCTACCAGACAA
CTGTTGCGAATTTCTCGTCGGCTGTCACAGTATCCTAATGAAAATCTTCACAGTGCTGTTACTAAAGCCTGCCTTTCCAGGTTTTTACCC
AGTCTTGCTAGGTCAGCATTAGAAAAAAATCTGGCAGATGCTACAATAGAAATAAATACTGATGACAATTTGGAGCCAGAACTGAAGGAT
TACAAATGTGAAGTAACATCTGGAACTCTGAGGATTGGTGCTGTTAGTGCACCGATCTATAATGCACATGAGAAAATGAAAGTGCCTGAT
GTTCTTTTCTATGACAACATTCAGCATGTGATAGTGATGGAAGATATGCTGAAAGACTTTCTCCTTGGAGAACACTTATTATTGGTTGGC
AACCAGGGTGTAGGAAAAAACAAGATTGTTGACAGATTCCTTCACCTGCTCAACAGACCCCGAGAATATATTCAGCTACACAGGGATACC
ACAGTACAAACTCTTACGCTTCAGCCTTCGGTTAAAGACGGACTTATTGTATATGAAGACTCACCTTTGGTTAAAGCAGTAAAGTTGGGT
CATATTCTGGTAGTAGATGAGGCTGACAAAGCTCCAACAAATGTCACGTGTATTTTAAAAACTCTAGTAGAAAATGGAGAAATGATTCTA
GCAGATGGAAGACGCATTGTTGCAAATTCTGCTAATGTGAATGGAAGAGAAAATGTTGTAGTGATTCATCCTGATTTTAGGATGATTGTT
CTGGCAAATAGACCTGGATTTCCTTTCCTAGGCAATGATTTCTTCGGTACCTTAGGTGATATTTTTAGCTGCCATGCAGTTGATAACCCC
AAACCCCACTCGGAGCTCGAGATGCTCAGACAGTATGGACCAAATGTGCCTGAGCCCATCCTTCAGAAGCTTGTGGCTGCCTTTGGAGAG
CTGAGGAGTTTGGCTGACCAAGGGATTATTAACTATCCTTATTCTACCAGAGAAGTTGTCAACATAGTCAAACATTTACAGAAATTTCCG
ACTGAAGGTCTCTCCAGTGTAGTTCGAAATGTGTTTGACTTTGATTCCTACAACAATGACATGAGGGAGATATTGATTAACACTTTACAC
AAATACGGGATACCTATCGGAGCAAAGCCTACCAGTGTGCAGCTGGCAAAGGAGTTGACTCTGCCAGAACAAACGTTCATGGGCTACTGG
ACAATTGGTCAGGCAAGAAGTGGGATGCAAAAACTCTTGTGTCCAGTGGAAACTCATCATATAGACATAAAGGGTCCAGCACTTATAAAT
ATACAGGAGTATCCAATAGAAAGACATGAAGAAAGATCCCTAAACTTTACTGAAGAATGTGCCTCATGGAGAATACCATTGGATGAAATT
AATATAATCTGTGACATTGCTACATCACATGAAAATGAGCAAAATACTCTCTATGTAGTTACATGCAATCCCGCTTCCCTGTACTTTATG
AATATGACTGGGAAAAGTGGCTTCTTTGTGGACTTTTTTGATATCTTCCCAAGAACAGCCAATGGCGTTTGGCACCCTTTTGTGACAGTG
GCACCGCTGGGAAGTCCTCTCAAAGGTCAAGTGGTTCTCCATGAGCAGCAGAGTAATGTTATCCTGTTGTTAGATACTACTGGCCGGGCC
CTTCATCGTCTCATCCTCCCTTCCGAGAAGTTTACATCTAAGAAACCTTTCTGGTGGAACAAAGAAGAAGCTGAAACTTATAAAATGTGT
AAAGAATTTTCACACAAAAACTGGCTGGTGTTCTACAAAGAAAAAGGGAACAGCCTGACTGTGCTGGATGTTCTAGAAGGGCGAACTCAC
ACCATCTCACTTCCCATCAACCTCAAGACAGTTTTCCTTGTAGCAGAGGACAAATGGCTTCTGGTGGAGAGCAAAACAAATCAGAAATAT
CTTTTAACTAAGCCTGCACACATCGAATCTGAGGGTAGTGGGGTTTGCCAGTTGTATGTGCTGAAAGAGGAGCCGCCCAGCACAGGGTTT
GGAGTTACACAAGAAACAGAGTTCAGCATACCTCATAAAATTTCCAGTGATCAACTATCATCTGAACATCTAAGTTCAGCTGTGGAACAA
AAGATTGCCTCTCCCAACAGAATTCTCTCAGATGAGAAAAATTATGCTACAATAGTTGTTGGTTTTCCAGATCTCATGTCACCCAGTGAA
GTTTATTCTTGGAAGAGACCATCATCTTTGCATAAACGAAGTGGCACTGATACATCATTCTATAGAGGAAAGAAGAAAAGGGGGACTCCA
AAACAAAGCAATTGTGTGACTCTTTTAGATACGAATCAGGTAGTGAGGATTTTACCCCCAGGAGAAGTCCCTCTAAAAGATATCTACCCA
AAAGATGTTACTCCTCCACAAACATCTGGTTATATAGAAGTCACTGATCTTCAATCAAAGAAACTCCGATATATCCCTATTCCCAGATCA
GAATCTCTCTCGCCGTATACCACATGGCTGTCGACCATTTCAGACACAGATGCACTGCTGGCTGAGTGGGACAAAAGCGGTGTTGTTACT
GTTGATATGGGAGGTCACATCAGGCTTTGGGAAACTGGACTTGAACGTCTGCAGCGATCACTCATGGAATGGAGAAACATGATTGGACAA
GATGACAGAAATATGCAGATAACAATCAACAGAGACAGTGGTGAAGATGTAAGCTCCCCCAAACACGGGAAGGAGGACCCAGACAACATG
CCTCACGTGGGCGGCAACACTTGGGCTGGCGGAACAGGGGGAAGAGACACGGCAGGCCTGGGTGGCAAAGGAGGCCCTTACCGGCTGGAT
GCAGGCCATACGGTGTACCAGGTCTCTCAGGCTGAGAAAGATGCAGTTCCCGAAGAGGTCAAGAGAGCTGCTAGAGAGATGGGCCAGAGA
GCATTCCAGCAGAGGCTAAAGGAGATCCAAATGAGTGAATACGATGCTGCAACCTATGAAAGGTTTTCAGGTGCTGTTCGGCGACAGGTG
CACTCCCTCCGAATCATCCTGGATAATTTACAGGCTAAAGGTAAAGAAAGACAATGGCTAAGACATCAAGCTACTGGAGAATTAGATGAT
GCCAAGATCATTGATGGGCTGACTGGAGAAAAAGCCATCTACAAACGTCGGGGTGAGCTGGAGCCACAACTTGGCAGCCCACAACAGAAA
CCCAAGCGTCTGCGCCTGGTGGTAGATGTGTCTGGTAGCATGTACCGTTTCAACAGGATGGATGGCCGGCTTGAGCGCACAATGGAGGCT
GTGTGTATGGTCATGGAAGCCTTCGAGAACTATGAGGAGAAGTTCCAGTATGACATCGTTGGACACTCTGGAGATGGCTACAACATTGGT
CTGGTTCCAATGAACAAAATCCCCAAGGACAATAAGCAAAGACTAGAAATTCTGAAGACAATGCATGCCCACTCTCAGTTCTGCATGAGT
GGGGACCACACGTTAGAAGGGACAGAACATGCCATCAAGGAAATTGTCAAAGAAGAAGCTGATGAGTACTTTGTCATAGTCTTGAGTGAT
GCAAATCTGTCACGATATGGAATACATCCTGCTAAGTTTGCTCAAATCCTCACAAGAGACCCTCAAGTAAATGCTTTTGCCATTTTTATT
GGCTCTTTAGGTGATCAAGCAACCAGGCTTCAGAGAACTTTACCAGCTGGTCGGTCTTTCGTTGCCATGGATACCAAGGATATCCCTCAG
ATTTTACAACAGATCTTCACCTCCACCATGTTGTCGAGTGTCTAAGAAGTGCCCTTCATCACCCTGATGACACCAGGATTTGAAATAAGA
CAGGAATAAAGAGTATTCTGAAAAAAAGAAGATATGGATGAAGTGAACCCATGCAGTGACTGGATGATTCCGGCATTCCTGGGTCTTCCT
ACACTTGCTCCGTAATGAGAATTCAGAGAAGCAGCCAGAAGGAGACTTAAACATGGAAAGATACTCCACTGATGAGTTTAGAAGTGATTA
GGGCAAGCTAGTTGACCTGCACTTTATCAAAGGTTGGGGTTAAAGGAAGGTGGTTTTGAGAACTATGTGTTTGGTCTATTTCCAAAAACC
TGAGGGGGAGAAAATACTTTGCTTTTGCCTTAACACATCATCTGGTCACGTTAGAAAAGTGACCCCATCAAACTGAGCCTTTGATGTCAC
ATTCTGACACAAGATGCAAGTCTGTGCAAAACCCACCAAAATGCTCCTATCCAACAATTATTTTTATTTTCTCCCTGCTCTGTATTGACC
AGAAAACAATGATTTTATAATATTTAACCCACCAAAAAGTCCCTCCAACAGCAATATCTTATGAAAGTCTGGCTGTTCTCAATAATTTCA
TTTTCTTGGCCAAAGCCAAAAGGAATCAAAAAATCCTTGGAGTGCTTGCCTTTCCACGTGACTTTTAAAAGGCTCTTAAAGAGCAAATGT
CCTCTTCTCCTTGCTGCTAGAGTGGGAGGAGAAAGATGTCTTGCCTTAAAAGTTTACTGTTTCTTCTGTTCTTCTAGCATCTCTCAAAAA
ATTCACAGTACTCCATTTTGGGGTCCAAACTGTAATGCTCAAAATAATAAATGCTTACACGAAAATTATTTATTGAGAATATTCATATAA
AAATTACCTAAAGCAAAGTAAAAAAAGTAAAATCAAGGTGGTATATTTGAAGTGAATGGTGATTGGAAATTTTTAGCTGTAACAAAAAGA
AAGAAAACAACTTTTTTTAAAGCCTCATTCTCTTTTCTTTCAAAATGTACCTTATTCCCACACACTCTTGGGCTGACCTTTATTTTATCA
ATAAGCTCAATATTACTTTGTTTAAAATAAGATGCTTCAGCAAAAGTCATTCTCTCTTTAACCATATAATTTAAAAACTCCTCTTCACGA
TTGATAGCAAAATCAGAAACGTTAGGGCACCAGTGAGTTGAAAAAACTGGTCTTAAGTTGGAAAAACTATTATTAATAATATTATCCTAT
CCATCCATATCTATTGAAATTGTACAGGTCCATAATTTCATTTTAATTAATTATAGGAAAGAAGAAAAGATAATACCCATTTGTTCTATC

>26163_26163_4_ELF1-VWA8_ELF1_chr13_41556119_ENST00000442101_VWA8_chr13_42465723_ENST00000379310_length(amino acids)=1768AA_BP=24
MAAVVQQNDLVFEFASNVMEDERQCAVRAATEGRTLILEGLEKAERNVLPVLNNLLENREMQLEDGRFLMSAERYDKLLRDHTKKELDSW
KIVRVSENFRVIALGLPVPRYSGNPLDPPLRSRFQARDIYYLPFKDQLKLLYSIGANVSAEKVSQLLSFATTLCSQESSTLGLPDFPLDS
LAAAVQILDSFPMMPIKHAIQWLYPYSILLGHEGKMAVEGVLKRFELQDSGSSLLPKEIVKVEKMMENHVSQASVTIRIADKEVTIKVPA
GTRLLSQPCASDRFIQTLSHKQLQAEMMQSHMVKDICLIGGKGCGKTVIAKNFADTLGYNIEPIMLYQDMTARDLLQQRYTLPNGDTAWR
SSPLVNAALEGKLVLLDGIHRVNAGTLAVLQRLIHDRELSLYDGSRLLREDRYMRLKEELQLSDEQLQKRSIFPIHPSFRIIALAEPPVI
GSTAHQWLGPEFLTMFFFHYMKPLVKSEEIQVIKEKVPNVPQEALDKLLSFTHKLRETQDPTAQSLAASLSTRQLLRISRRLSQYPNENL
HSAVTKACLSRFLPSLARSALEKNLADATIEINTDDNLEPELKDYKCEVTSGTLRIGAVSAPIYNAHEKMKVPDVLFYDNIQHVIVMEDM
LKDFLLGEHLLLVGNQGVGKNKIVDRFLHLLNRPREYIQLHRDTTVQTLTLQPSVKDGLIVYEDSPLVKAVKLGHILVVDEADKAPTNVT
CILKTLVENGEMILADGRRIVANSANVNGRENVVVIHPDFRMIVLANRPGFPFLGNDFFGTLGDIFSCHAVDNPKPHSELEMLRQYGPNV
PEPILQKLVAAFGELRSLADQGIINYPYSTREVVNIVKHLQKFPTEGLSSVVRNVFDFDSYNNDMREILINTLHKYGIPIGAKPTSVQLA
KELTLPEQTFMGYWTIGQARSGMQKLLCPVETHHIDIKGPALINIQEYPIERHEERSLNFTEECASWRIPLDEINIICDIATSHENEQNT
LYVVTCNPASLYFMNMTGKSGFFVDFFDIFPRTANGVWHPFVTVAPLGSPLKGQVVLHEQQSNVILLLDTTGRALHRLILPSEKFTSKKP
FWWNKEEAETYKMCKEFSHKNWLVFYKEKGNSLTVLDVLEGRTHTISLPINLKTVFLVAEDKWLLVESKTNQKYLLTKPAHIESEGSGVC
QLYVLKEEPPSTGFGVTQETEFSIPHKISSDQLSSEHLSSAVEQKIASPNRILSDEKNYATIVVGFPDLMSPSEVYSWKRPSSLHKRSGT
DTSFYRGKKKRGTPKQSNCVTLLDTNQVVRILPPGEVPLKDIYPKDVTPPQTSGYIEVTDLQSKKLRYIPIPRSESLSPYTTWLSTISDT
DALLAEWDKSGVVTVDMGGHIRLWETGLERLQRSLMEWRNMIGQDDRNMQITINRDSGEDVSSPKHGKEDPDNMPHVGGNTWAGGTGGRD
TAGLGGKGGPYRLDAGHTVYQVSQAEKDAVPEEVKRAAREMGQRAFQQRLKEIQMSEYDAATYERFSGAVRRQVHSLRIILDNLQAKGKE
RQWLRHQATGELDDAKIIDGLTGEKAIYKRRGELEPQLGSPQQKPKRLRLVVDVSGSMYRFNRMDGRLERTMEAVCMVMEAFENYEEKFQ
YDIVGHSGDGYNIGLVPMNKIPKDNKQRLEILKTMHAHSQFCMSGDHTLEGTEHAIKEIVKEEADEYFVIVLSDANLSRYGIHPAKFAQI

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Fusion Gene PPI Analysis for ELF1-VWA8


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
TgeneVWA8chr13:41556119chr13:42465723ENST000002814963261_261161.01040.0PEX7
TgeneVWA8chr13:41556119chr13:42465723ENST000003793103451_261161.01906.0PEX7


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 ELF1-VWA8


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 ELF1-VWA8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0004352Autistic Disorder1CTD_human