FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 8037

FusionGeneSummary for COMMD1_PAPOLG

check button Fusion gene summary
Fusion gene informationFusion gene name: COMMD1_PAPOLG
Fusion gene ID: 8037
HgeneTgene
Gene symbol

COMMD1

PAPOLG

Gene ID

150684

64895

Gene namecopper metabolism domain containing 1poly(A) polymerase gamma
SynonymsC2orf5|MURR1-
Cytomap

2p15

2p16.1

Type of geneprotein-codingprotein-coding
DescriptionCOMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1poly(A) polymerase gammaPAP-gammaSRP RNA 3' adenylating enzyme/pap2SRP RNA 3'-adenylating enzymeSRP RNA-adenylating enzymeneo-PAPneo-poly(A) polymerasenuclear poly(A) polymerase gammapolynucleotide adenylyltransferase gammasignal recognition part
Modification date2018052320180523
UniProtAcc

Q8N668

Q9BWT3

Ensembl transtripts involved in fusion geneENST00000472729, ENST00000311832, 
ENST00000538736, 
ENST00000238714, 
ENST00000483370, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: COMMD1 [Title/Abstract] AND PAPOLG [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

TgenePAPOLG

GO:0043631

RNA polyadenylation

11287430|11463842


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
TCGALDDLBCTCGA-RQ-A6JB-01ACOMMD1chr2

62132993

+PAPOLGchr2

60987269

+
* 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-3CDSENST00000472729ENST00000238714COMMD1chr2

62132993

+PAPOLGchr2

60987269

+
intron-intronENST00000472729ENST00000483370COMMD1chr2

62132993

+PAPOLGchr2

60987269

+
Frame-shitENST00000311832ENST00000238714COMMD1chr2

62132993

+PAPOLGchr2

60987269

+
5CDS-intronENST00000311832ENST00000483370COMMD1chr2

62132993

+PAPOLGchr2

60987269

+
Frame-shitENST00000538736ENST00000238714COMMD1chr2

62132993

+PAPOLGchr2

60987269

+
5CDS-intronENST00000538736ENST00000483370COMMD1chr2

62132993

+PAPOLGchr2

60987269

+

Top

FusionProtFeatures for COMMD1_PAPOLG


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

Q8N668

PAPOLG

Q9BWT3

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}. Responsible for the post-transcriptional adenylation ofthe 3'-terminal of mRNA precursors and several small RNAsincluding signal recognition particle (SRP) RNA, nuclear 7SK RNA,U2 small nuclear RNA, and ribosomal 5S RNA.{ECO:0000269|PubMed:11287430, ECO:0000269|PubMed:11463842}.

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


Top

FusionGeneSequence for COMMD1_PAPOLG


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).

Top

FusionGenePPI for COMMD1_PAPOLG


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
COMMD1NFKBIA, 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, FAM107APAPOLGNFYA, PCBD1, LZTR1, DHX29, NPM1, HARS, HNRNPR, DCTN1, ZFC3H1


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


Top

RelatedDrugs for COMMD1_PAPOLG


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

Top

RelatedDiseases for COMMD1_PAPOLG


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