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Fusion gene ID: 6371 |
FusionGeneSummary for CDC42EP4_COMMD1 |
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Fusion gene information | Fusion gene name: CDC42EP4_COMMD1 | Fusion gene ID: 6371 | Hgene | Tgene | Gene symbol | CDC42EP4 | COMMD1 | Gene ID | 23580 | 150684 |
Gene name | CDC42 effector protein 4 | copper metabolism domain containing 1 | |
Synonyms | BORG4|CEP4|KAIA1777 | C2orf5|MURR1 | |
Cytomap | 17q25.1 | 2p15 | |
Type of gene | protein-coding | protein-coding | |
Description | cdc42 effector protein 4CDC42 effector protein (Rho GTPase binding) 4binder of Rho GTPases 4 | COMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9H3Q1 | Q8N668 | |
Ensembl transtripts involved in fusion gene | ENST00000335793, ENST00000439510, ENST00000581014, ENST00000582303, | ENST00000472729, ENST00000311832, ENST00000538736, | |
Fusion gene scores | * DoF score | 4 X 1 X 5=20 | 8 X 5 X 8=320 |
# samples | 7 | 13 | |
** MAII score | log2(7/20*10)=1.8073549220576 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: CDC42EP4 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CDC42EP4 | GO:0008360 | regulation of cell shape | 11035016 |
Hgene | CDC42EP4 | GO:0031274 | positive regulation of pseudopodium assembly | 11035016 |
Tgene | COMMD1 | GO:0031398 | positive regulation of protein ubiquitination | 17183367|21741370 |
Tgene | COMMD1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15799966|16573520 |
Tgene | COMMD1 | GO:0048227 | plasma membrane to endosome transport | 21741370 |
Tgene | COMMD1 | GO:0055070 | copper ion homeostasis | 14685266 |
Tgene | COMMD1 | GO:1902306 | negative regulation of sodium ion transmembrane transport | 14645214 |
Tgene | COMMD1 | GO:2000009 | negative regulation of protein localization to cell surface | 21741370 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | UCEC | TCGA-DF-A2KR-01A | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3UTR | ENST00000335793 | ENST00000472729 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000335793 | ENST00000311832 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000335793 | ENST00000538736 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000439510 | ENST00000472729 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000439510 | ENST00000311832 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000439510 | ENST00000538736 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000581014 | ENST00000472729 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000581014 | ENST00000311832 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
5UTR-3UTR | ENST00000581014 | ENST00000538736 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
intron-3UTR | ENST00000582303 | ENST00000472729 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
intron-3UTR | ENST00000582303 | ENST00000311832 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
intron-3UTR | ENST00000582303 | ENST00000538736 | CDC42EP4 | chr17 | 71308032 | - | COMMD1 | chr2 | 62227836 | + |
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FusionProtFeatures for CDC42EP4_COMMD1 |
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Hgene | Tgene |
CDC42EP4 | COMMD1 |
Probably involved in the organization of the actincytoskeleton. May act downstream of CDC42 to induce actin filamentassembly leading to cell shape changes. Induces pseudopodiaformation, when overexpressed in fibroblasts. | 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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CDC42EP4_COMMD1 |
![]() (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 CDC42EP4_COMMD1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CDC42EP4 | WDR6, POLR3H, CDC42, ELAVL1, LNX1, APP, VCP, SRPK2, FAM9B, RTN4IP1, SEPT4, SEPT2, SEPT7, SEPT5, SEPT6, SEPT8, SEPT11, SEPT9, SEPT3, KLHL15, SEPT10, YBEY, FHL2, CDH1, SEPT14 | COMMD1 | NFKBIA, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CDC42EP4_COMMD1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CDC42EP4_COMMD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COMMD1 | C0019189 | Hepatitis, Chronic | 2 | CTD_human |
Tgene | COMMD1 | C0020517 | Hypersensitivity | 1 | CTD_human |
Tgene | COMMD1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | COMMD1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Tgene | COMMD1 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |