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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:BARD1-ITGAV

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BARD1-ITGAV
FusionPDB ID: 8979
FusionGDB2.0 ID: 8979
HgeneTgene
Gene symbol

BARD1

ITGAV

Gene ID

580

3685

Gene nameBRCA1 associated RING domain 1integrin subunit alpha V
Synonyms-CD51|MSK8|VNRA|VTNR
Cytomap

2q35

2q32.1

Type of geneprotein-codingprotein-coding
DescriptionBRCA1-associated RING domain protein 1BRCA1-associated RING domain gene 1RING-type E3 ubiquitin transferase BARD1integrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha
Modification date2020032220200313
UniProtAcc

Q99728

P06756

Ensembl transtripts involved in fusion geneENST idsENST00000260947, ENST00000449967, 
ENST00000432456, ENST00000471787, 
ENST00000474571, ENST00000261023, 
ENST00000374907, ENST00000433736, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 4 X 3=369 X 8 X 6=432
# samples 49
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BARD1 [Title/Abstract] AND ITGAV [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BARD1(215632205)-ITGAV(187466747), # samples:1
Anticipated loss of major functional domain due to fusion event.BARD1-ITGAV 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.
BARD1-ITGAV 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.
BARD1-ITGAV 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.
BARD1-ITGAV 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.
BARD1-ITGAV seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BARD1-ITGAV seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BARD1-ITGAV seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BARD1-ITGAV seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BARD1-ITGAV seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BARD1-ITGAV seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneBARD1

GO:0046826

negative regulation of protein export from nucleus

15265711

HgeneBARD1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172

TgeneITGAV

GO:0007155

cell adhesion

10218736

TgeneITGAV

GO:0008284

positive regulation of cell proliferation

19578119

TgeneITGAV

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

TgeneITGAV

GO:0034446

substrate adhesion-dependent cell spreading

24658351

TgeneITGAV

GO:0045785

positive regulation of cell adhesion

10708943

TgeneITGAV

GO:0050764

regulation of phagocytosis

10570297

TgeneITGAV

GO:0070588

calcium ion transmembrane transport

18395422

TgeneITGAV

GO:1901388

regulation of transforming growth factor beta activation

22278742

TgeneITGAV

GO:2000536

negative regulation of entry of bacterium into host cell

10570297


check buttonFusion gene breakpoints across BARD1 (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 ITGAV (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-BR-8589BARD1chr2

215632205

-ITGAVchr2

187466747

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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000260947BARD1chr2215632205-ENST00000261023ITGAVchr2187466747+82741703346641553
ENST00000260947BARD1chr2215632205-ENST00000374907ITGAVchr2187466747+81621703345561517
ENST00000260947BARD1chr2215632205-ENST00000433736ITGAVchr2187466747+48141703346641553

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
ENST00000260947ENST00000261023BARD1chr2215632205-ITGAVchr2187466747+4.86E-050.9999515
ENST00000260947ENST00000374907BARD1chr2215632205-ITGAVchr2187466747+5.54E-050.99994457
ENST00000260947ENST00000433736BARD1chr2215632205-ITGAVchr2187466747+0.0002783010.9997217

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>8979_8979_1_BARD1-ITGAV_BARD1_chr2_215632205_ENST00000260947_ITGAV_chr2_187466747_ENST00000261023_length(amino acids)=1553AA_BP=567
MAARRPRRGKSLAGFESLACSFPVVSRGFLASRSARSLSSEGGTMPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEK
LLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNELSDLKEDKPRKSLFNDA
GNKKNSIKMWFSPRSKKVRYVVSKASVQTQPAIKKDASAQQDSYEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKED
GEFDSKEESKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTPEKVCKNYLTSKKSLPL
ENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRR
VMSSPSAMKLLPNMAVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKDHAGWTPLHEACNHGHLKVVELLLQHKALVNTTGYQNDS
PLHDAAKNGHVDIVKLLLSYGASRNAVRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFG
ASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTKADRVLLGGPGSFYWQGQLIS
DQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAY
FGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYG
GEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILN
QDNKTCSLPGTALKVSCFNVRFCLKADGKGVLPRKLNFQVELLLDKLKQKGAIRRALFLYSRSPSHSKNMTISRGGLMQCEELIAYLRDE
SEFRDKLTPITIFMEYRLDYRTAADTTGLQPILNQFTPANISRQAHILLDCGEDNVCKPKLEVSVDSDQKKIYIGDDNPLTLIVKAQNQG
EGAYEAELIVSIPLQADFIGVVRNNEALARLSCAFKTENQTRQVVCDLGNPMKAGTQLLAGLRFSVHQQSEMDTSVKFDLQIQSSNLFDK
VSPVVSHKVDLAVLAAVEIRGVSSPDHVFLPIPNWEHKENPETEEDVGPVVQHIYELRNNGPSSFSKAMLHLQWPYKYNNNTLLYILHYD
IDGPMNCTSDMEINPLRIKISSLQTTEKNDTVAGQGERDHLITKRDLALSEGDIHTLGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWT
ETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTTNVTWGIQPAPMPVPVWVIILAVLAGLLLLAVLVFVMYRMGFFKRVR

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>8979_8979_2_BARD1-ITGAV_BARD1_chr2_215632205_ENST00000260947_ITGAV_chr2_187466747_ENST00000374907_length(amino acids)=1517AA_BP=567
MAARRPRRGKSLAGFESLACSFPVVSRGFLASRSARSLSSEGGTMPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEK
LLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNELSDLKEDKPRKSLFNDA
GNKKNSIKMWFSPRSKKVRYVVSKASVQTQPAIKKDASAQQDSYEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKED
GEFDSKEESKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTPEKVCKNYLTSKKSLPL
ENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRR
VMSSPSAMKLLPNMAVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKDHAGWTPLHEACNHGHLKVVELLLQHKALVNTTGYQNDS
PLHDAAKNGHVDIVKLLLSYGASRNAVRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFG
ASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRQLISDQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSY
LGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQE
VGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMP
PSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILNQDNKTCSLPGTALKVSCFNVRFCLKADGKGVLPRKL
NFQVELLLDKLKQKGAIRRALFLYSRSPSHSKNMTISRGGLMQCEELIAYLRDESEFRDKLTPITIFMEYRLDYRTAADTTGLQPILNQF
TPANISRQAHILLDCGEDNVCKPKLEVSVDSDQKKIYIGDDNPLTLIVKAQNQGEGAYEAELIVSIPLQADFIGVVRNNEALARLSCAFK
TENQTRQVVCDLGNPMKAGTQLLAGLRFSVHQQSEMDTSVKFDLQIQSSNLFDKVSPVVSHKVDLAVLAAVEIRGVSSPDHVFLPIPNWE
HKENPETEEDVGPVVQHIYELRNNGPSSFSKAMLHLQWPYKYNNNTLLYILHYDIDGPMNCTSDMEINPLRIKISSLQTTEKNDTVAGQG
ERDHLITKRDLALSEGDIHTLGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWTETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDI

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>8979_8979_3_BARD1-ITGAV_BARD1_chr2_215632205_ENST00000260947_ITGAV_chr2_187466747_ENST00000433736_length(amino acids)=1553AA_BP=567
MAARRPRRGKSLAGFESLACSFPVVSRGFLASRSARSLSSEGGTMPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEK
LLRCSRCTNILREPVCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNELSDLKEDKPRKSLFNDA
GNKKNSIKMWFSPRSKKVRYVVSKASVQTQPAIKKDASAQQDSYEFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKED
GEFDSKEESKQKLVSFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTPEKVCKNYLTSKKSLPL
ENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLPECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRR
VMSSPSAMKLLPNMAVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKDHAGWTPLHEACNHGHLKVVELLLQHKALVNTTGYQNDS
PLHDAAKNGHVDIVKLLLSYGASRNAVRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFG
ASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTKADRVLLGGPGSFYWQGQLIS
DQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAY
FGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYG
GEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILN
QDNKTCSLPGTALKVSCFNVRFCLKADGKGVLPRKLNFQVELLLDKLKQKGAIRRALFLYSRSPSHSKNMTISRGGLMQCEELIAYLRDE
SEFRDKLTPITIFMEYRLDYRTAADTTGLQPILNQFTPANISRQAHILLDCGEDNVCKPKLEVSVDSDQKKIYIGDDNPLTLIVKAQNQG
EGAYEAELIVSIPLQADFIGVVRNNEALARLSCAFKTENQTRQVVCDLGNPMKAGTQLLAGLRFSVHQQSEMDTSVKFDLQIQSSNLFDK
VSPVVSHKVDLAVLAAVEIRGVSSPDHVFLPIPNWEHKENPETEEDVGPVVQHIYELRNNGPSSFSKAMLHLQWPYKYNNNTLLYILHYD
IDGPMNCTSDMEINPLRIKISSLQTTEKNDTVAGQGERDHLITKRDLALSEGDIHTLGCGVAQCLKIVCQVGRLDRGKSAILYVKSLLWT
ETFMNKENQNHSYSLKSSASFNVIEFPYKNLPIEDITNSTLVTTNVTWGIQPAPMPVPVWVIILAVLAGLLLLAVLVFVMYRMGFFKRVR

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Fusion Protein Functional Features


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/chr2:215632205/chr2:187466747)
- 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
BARD1

Q99728

ITGAV

P06756

FUNCTION: E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage. {ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:20351172}.FUNCTION: The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). {ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15184403, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18441324, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:28117447, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C. {ECO:0000269|PubMed:20615244}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1. {ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:7519807, ECO:0000269|PubMed:9426447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1. {ECO:0000269|PubMed:24367260}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1. {ECO:0000269|PubMed:11160695}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus. {ECO:0000269|PubMed:23658209}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611400_403522.6666666666666778.0Compositional biasNote=Poly-Ser
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611427_459522.6666666666666778.0RepeatNote=ANK 1
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611460_492522.6666666666666778.0RepeatNote=ANK 2
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611493_525522.6666666666666778.0RepeatNote=ANK 3
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-61150_87522.6666666666666778.0Zinc fingerRING-type
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030260_26861.6666666666666641049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030314_32261.6666666666666641049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030379_38761.6666666666666641049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030443_45161.6666666666666641049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028260_26861.6666666666666641013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028314_32261.6666666666666641013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028379_38761.6666666666666641013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028443_45161.6666666666666641013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030260_26815.6666666666666661003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030314_32215.6666666666666661003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030379_38715.6666666666666661003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030443_45115.6666666666666661003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
TgeneITGAVchr2:215632205chr2:187466747ENST000002610230301019_102361.6666666666666641049.0MotifNote=GFFKR motif
TgeneITGAVchr2:215632205chr2:187466747ENST000003749070281019_102361.6666666666666641013.0MotifNote=GFFKR motif
TgeneITGAVchr2:215632205chr2:187466747ENST000004337360301019_102315.6666666666666661003.0MotifNote=GFFKR motif
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030109_17061.6666666666666641049.0RepeatFG-GAP 2
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030173_22561.6666666666666641049.0RepeatFG-GAP 3
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030237_29161.6666666666666641049.0RepeatFG-GAP 4
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030292_35761.6666666666666641049.0RepeatFG-GAP 5
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030358_41561.6666666666666641049.0RepeatFG-GAP 6
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030419_48261.6666666666666641049.0RepeatFG-GAP 7
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028109_17061.6666666666666641013.0RepeatFG-GAP 2
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028173_22561.6666666666666641013.0RepeatFG-GAP 3
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028237_29161.6666666666666641013.0RepeatFG-GAP 4
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028292_35761.6666666666666641013.0RepeatFG-GAP 5
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028358_41561.6666666666666641013.0RepeatFG-GAP 6
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028419_48261.6666666666666641013.0RepeatFG-GAP 7
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030109_17015.6666666666666661003.0RepeatFG-GAP 2
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030173_22515.6666666666666661003.0RepeatFG-GAP 3
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030237_29115.6666666666666661003.0RepeatFG-GAP 4
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030292_35715.6666666666666661003.0RepeatFG-GAP 5
TgeneITGAVchr2:215632205chr2:187466747ENST0000043373603032_9815.6666666666666661003.0RepeatFG-GAP 1
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030358_41515.6666666666666661003.0RepeatFG-GAP 6
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030419_48215.6666666666666661003.0RepeatFG-GAP 7
TgeneITGAVchr2:215632205chr2:187466747ENST000002610230301017_104861.6666666666666641049.0Topological domainCytoplasmic
TgeneITGAVchr2:215632205chr2:187466747ENST000003749070281017_104861.6666666666666641013.0Topological domainCytoplasmic
TgeneITGAVchr2:215632205chr2:187466747ENST000004337360301017_104815.6666666666666661003.0Topological domainCytoplasmic
TgeneITGAVchr2:215632205chr2:187466747ENST0000043373603031_99215.6666666666666661003.0Topological domainExtracellular
TgeneITGAVchr2:215632205chr2:187466747ENST00000261023030993_101661.6666666666666641049.0TransmembraneHelical
TgeneITGAVchr2:215632205chr2:187466747ENST00000374907028993_101661.6666666666666641013.0TransmembraneHelical
TgeneITGAVchr2:215632205chr2:187466747ENST00000433736030993_101615.6666666666666661003.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611542_545522.6666666666666778.0Compositional biasNote=Poly-Leu
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611560_653522.6666666666666778.0DomainBRCT 1
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611667_777522.6666666666666778.0DomainBRCT 2
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611554_558522.6666666666666778.0RegionNote=Flexible linker
HgeneBARD1chr2:215632205chr2:187466747ENST00000260947-611526_546522.6666666666666778.0RepeatNote=ANK 4%3B degenerate
TgeneITGAVchr2:215632205chr2:187466747ENST0000026102303032_9861.6666666666666641049.0RepeatFG-GAP 1
TgeneITGAVchr2:215632205chr2:187466747ENST0000037490702832_9861.6666666666666641013.0RepeatFG-GAP 1
TgeneITGAVchr2:215632205chr2:187466747ENST0000026102303031_99261.6666666666666641049.0Topological domainExtracellular
TgeneITGAVchr2:215632205chr2:187466747ENST0000037490702831_99261.6666666666666641013.0Topological domainExtracellular


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
BARD1
ITGAV


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to BARD1-ITGAV


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to BARD1-ITGAV


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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