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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17892

FusionGeneSummary for ITGB6_COMMD1

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB6_COMMD1
Fusion gene ID: 17892
HgeneTgene
Gene symbol

ITGB6

COMMD1

Gene ID

3694

150684

Gene nameintegrin subunit beta 6copper metabolism domain containing 1
SynonymsAI1HC2orf5|MURR1
Cytomap

2q24.2

2p15

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-6integrin, beta 6COMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1
Modification date2018052320180523
UniProtAcc

P18564

Q8N668

Ensembl transtripts involved in fusion geneENST00000283249, ENST00000485635, 
ENST00000428609, ENST00000409967, 
ENST00000409872, 		ENST00000472729, 
ENST00000311832, ENST00000538736, 
Fusion gene scores* DoF score6 X 7 X 6=2528 X 5 X 8=320
# samples 1113
** MAII scorelog2(11/252*10)=-1.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/320*10)=-1.29956028185891
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGB6 [Title/Abstract] AND COMMD1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneITGB6

GO:0033627

cell adhesion mediated by integrin

17158881

TgeneCOMMD1

GO:0031398

positive regulation of protein ubiquitination

17183367|21741370

TgeneCOMMD1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

15799966|16573520

TgeneCOMMD1

GO:0048227

plasma membrane to endosome transport

21741370

TgeneCOMMD1

GO:0055070

copper ion homeostasis

14685266

TgeneCOMMD1

GO:1902306

negative regulation of sodium ion transmembrane transport

14645214

TgeneCOMMD1

GO:2000009

negative regulation of protein localization to cell surface

21741370


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-AN-A0XU-01AITGB6chr2

161025723

-COMMD1chr2

62362966

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000283249ENST00000472729ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000283249ENST00000311832ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-intronENST00000283249ENST00000538736ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5UTR-3UTRENST00000485635ENST00000472729ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5UTR-3UTRENST00000485635ENST00000311832ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5UTR-intronENST00000485635ENST00000538736ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000428609ENST00000472729ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000428609ENST00000311832ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-intronENST00000428609ENST00000538736ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000409967ENST00000472729ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000409967ENST00000311832ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-intronENST00000409967ENST00000538736ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000409872ENST00000472729ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-3UTRENST00000409872ENST00000311832ITGB6chr2

161025723

-COMMD1chr2

62362966

+
5CDS-intronENST00000409872ENST00000538736ITGB6chr2

161025723

-COMMD1chr2

62362966

+

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FusionProtFeatures for ITGB6_COMMD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGB6

P18564

COMMD1

Q8N668

Integrin alpha-V/beta-6 is a receptor for fibronectinand cytotactin. It recognizes the sequence R-G-D in its ligands.Internalisation of integrin alpha-V/beta-6 via clathrin-mediatedendocytosis promotes carcinoma cell invasion. ITGAV:ITGB6 acts asa receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependentcell adhesion to FBN1 (PubMed:17158881).{ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:17545607}. (Microbial infection) Integrin ITGAV:ITGB6 acts as areceptor for Coxsackievirus A9 and Coxsackievirus B1.{ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:9426447}. (Microbial infection) Integrin ITGAV:ITGB6 acts as areceptor for Herpes simplex virus-1/HHV-1 (PubMed:24367260).{ECO:0000269|PubMed:24367260}. Proposed scaffold protein that is implicated in diversephysiological processes and whose function may be in part linkedto its ability to regulate ubiquitination of specific cellularproteins. Can modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes by displacing CAND1; in vitro promotes CRL E3activity and dissociates CAND1 from CUL1 and CUL2(PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunitRELA and its subsequent proteasomal degradation. Down-regulatesNF-kappa-B activity (PubMed:15799966, PubMed:17183367,PubMed:20048074). Involved in the regulation of membraneexpression and ubiquitination of SLC12A2 (PubMed:23515529).Modulates Na(+) transport in epithelial cells by regulation ofapical cell surface expression of amiloride-sensitive sodiumchannel (ENaC) subunits and by promoting their ubiquitinationpresumably involving NEDD4L. Promotes the localization of SCNN1Dto recycling endosomes (PubMed:14645214, PubMed:20237237,PubMed:21741370). Promotes CFTR cell surface expression throughregulation of its ubiquitination (PubMed:21483833). Down-regulatesSOD1 activity by interfering with its homodimerization(PubMed:20595380). Plays a role in copper ion homeostasis.Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function isproposed to depend on its association within the CCC complex andcooperation with the WASH complex on early endosomes(PubMed:25355947). Can bind one copper ion per monomer(PubMed:17309234). May function to facilitate biliary copperexcretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in theregulation of HIF1A-mediated transcription; competes withARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNAbinding and impaired transcriptional activation by HIF-1(PubMed:20458141). {ECO:0000269|PubMed:14645214,ECO:0000269|PubMed:14685266, ECO:0000269|PubMed:15799966,ECO:0000269|PubMed:16573520, ECO:0000269|PubMed:17183367,ECO:0000269|PubMed:17309234, ECO:0000269|PubMed:20048074,ECO:0000269|PubMed:20237237, ECO:0000269|PubMed:20458141,ECO:0000269|PubMed:20595380, ECO:0000269|PubMed:21483833,ECO:0000269|PubMed:21741370, ECO:0000269|PubMed:21778237,ECO:0000269|PubMed:23515529, ECO:0000269|PubMed:25355947}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ITGB6_COMMD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ITGB6_COMMD1


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
ITGB6FLNB, FLNA, FN1, FHL2, MAPK1COMMD1NFKBIA, XIAP, SOCS1, CUL2, TCEB1, RELA, CUL1, CUL3, CUL4A, CUL4B, CUL5, CUL7, HIF1A, HSPA4, CLU, CFTR, SCNN1D, KAT2A, AKT1, SGK1, SCNN1B, SPP1, NAIP, BIRC3, CDKN2A, NMRAL1, SOD1, ATP7B, COMMD1, COMMD2, COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD10, REL, RELB, NFKB1, NFKB2, SCNN1G, ATP7A, BARD1, BRCA1, LIG4, VCP, SLC12A2, CCDC22, BAHCC1, EP300, CCDC93, C16orf62, SCLT1, PARK2, FAM45A, COMMD9, DSCR3, E2F6, TFDP1, BCR, VPS29, VPS33B, STK11IP, TTF2, NFYC, KIF2B, FAM167A, TRIM16L, G6PD, ATAD3C, TBC1D4, RAD21, TRIM25, FAM107A


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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RelatedDrugs for ITGB6_COMMD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ITGB6_COMMD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGB6C4015557AMELOGENESIS IMPERFECTA, TYPE IH2UNIPROT
HgeneITGB6C0000786Spontaneous abortion1CTD_human
HgeneITGB6C0004364Autoimmune Diseases1CTD_human
HgeneITGB6C0008311Cholangitis1CTD_human
HgeneITGB6C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneITGB6C0023895Liver diseases1CTD_human
HgeneITGB6C0034067Pulmonary Emphysema1CTD_human
HgeneITGB6C0524910Hepatitis C, Chronic1CTD_human
TgeneCOMMD1C0019189Hepatitis, Chronic2CTD_human
TgeneCOMMD1C0020517Hypersensitivity1CTD_human
TgeneCOMMD1C0023890Liver Cirrhosis1CTD_human
TgeneCOMMD1C0041755Adverse reaction to drug1CTD_human
TgeneCOMMD1C1876165Copper-Overload Cirrhosis1CTD_human