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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: 8035

FusionGeneSummary for COMMD1_COMMD1

check button Fusion gene summary
Fusion gene informationFusion gene name: COMMD1_COMMD1
Fusion gene ID: 8035
HgeneTgene
Gene symbol

COMMD1

COMMD1

Gene ID

150684

150684

Gene namecopper metabolism domain containing 1copper metabolism domain containing 1
SynonymsC2orf5|MURR1C2orf5|MURR1
Cytomap

2p15

2p15

Type of geneprotein-codingprotein-coding
DescriptionCOMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1COMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1
Modification date2018052320180523
UniProtAcc

Q8N668

Q8N668

Ensembl transtripts involved in fusion geneENST00000472729, ENST00000311832, 
ENST00000538736, 
ENST00000472729, 
ENST00000311832, ENST00000538736, 
Fusion gene scores* DoF score3 X 3 X 3=278 X 5 X 8=320
# samples 313
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: COMMD1 [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
HgeneCOMMD1

GO:0031398

positive regulation of protein ubiquitination

17183367|21741370

HgeneCOMMD1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

15799966|16573520

HgeneCOMMD1

GO:0048227

plasma membrane to endosome transport

21741370

HgeneCOMMD1

GO:0055070

copper ion homeostasis

14685266

HgeneCOMMD1

GO:1902306

negative regulation of sodium ion transmembrane transport

14645214

HgeneCOMMD1

GO:2000009

negative regulation of protein localization to cell surface

21741370

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
ChiTaRS3.1AI557080COMMD1chr2

62352415

+COMMD1chr2

62352322

-
* 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
intron-intronENST00000472729ENST00000472729COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000472729ENST00000311832COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000472729ENST00000538736COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000311832ENST00000472729COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000311832ENST00000311832COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000311832ENST00000538736COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000538736ENST00000472729COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000538736ENST00000311832COMMD1chr2

62352415

+COMMD1chr2

62352322

-
intron-intronENST00000538736ENST00000538736COMMD1chr2

62352415

+COMMD1chr2

62352322

-

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FusionProtFeatures for COMMD1_COMMD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COMMD1

Q8N668

COMMD1

Q8N668

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}. 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 COMMD1_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 COMMD1_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


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 COMMD1_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 COMMD1_COMMD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOMMD1C0019189Hepatitis, Chronic2CTD_human
HgeneCOMMD1C0020517Hypersensitivity1CTD_human
HgeneCOMMD1C0023890Liver Cirrhosis1CTD_human
HgeneCOMMD1C0041755Adverse reaction to drug1CTD_human
HgeneCOMMD1C1876165Copper-Overload Cirrhosis1CTD_human
TgeneCOMMD1C0019189Hepatitis, Chronic2CTD_human
TgeneCOMMD1C0020517Hypersensitivity1CTD_human
TgeneCOMMD1C0023890Liver Cirrhosis1CTD_human
TgeneCOMMD1C0041755Adverse reaction to drug1CTD_human
TgeneCOMMD1C1876165Copper-Overload Cirrhosis1CTD_human