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: 7788

FusionGeneSummary for COA1_HECW1

check button Fusion gene summary
Fusion gene informationFusion gene name: COA1_HECW1
Fusion gene ID: 7788
HgeneTgene
Gene symbol

COA1

HECW1

Gene ID

55744

23072

Gene namecytochrome c oxidase assembly factor 1 homologHECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
SynonymsC7orf44|MITRAC15NEDL1
Cytomap

7p13

7p14.1-p13

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase assembly factor 1 homologcytochrome c oxidase assembly protein 1 homologmitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDaE3 ubiquitin-protein ligase HECW1HECT type E3 ubiquitin ligaseHECT-type E3 ubiquitin transferase HECW1NEDD4-like ubiquitin-protein ligase 1
Modification date2018051920180523
UniProtAcc

Q9GZY4

Q76N89

Ensembl transtripts involved in fusion geneENST00000488813, ENST00000395879, 
ENST00000395880, ENST00000310564, 
ENST00000223336, 
ENST00000395891, 
ENST00000453890, ENST00000471043, 
Fusion gene scores* DoF score8 X 4 X 5=1605 X 5 X 4=100
# samples 95
** MAII scorelog2(9/160*10)=-0.830074998557688
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COA1 [Title/Abstract] AND HECW1 [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

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
TCGALDGBMTCGA-06-0210-01ACOA1chr7

43769028

-HECW1chr7

43580762

+
* 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-3CDSENST00000488813ENST00000395891COA1chr7

43769028

-HECW1chr7

43580762

+
intron-3CDSENST00000488813ENST00000453890COA1chr7

43769028

-HECW1chr7

43580762

+
intron-intronENST00000488813ENST00000471043COA1chr7

43769028

-HECW1chr7

43580762

+
intron-3CDSENST00000395879ENST00000395891COA1chr7

43769028

-HECW1chr7

43580762

+
intron-3CDSENST00000395879ENST00000453890COA1chr7

43769028

-HECW1chr7

43580762

+
intron-intronENST00000395879ENST00000471043COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-3CDSENST00000395880ENST00000395891COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-3CDSENST00000395880ENST00000453890COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-intronENST00000395880ENST00000471043COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-3CDSENST00000310564ENST00000395891COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-3CDSENST00000310564ENST00000453890COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-intronENST00000310564ENST00000471043COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-3CDSENST00000223336ENST00000395891COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-3CDSENST00000223336ENST00000453890COA1chr7

43769028

-HECW1chr7

43580762

+
5UTR-intronENST00000223336ENST00000471043COA1chr7

43769028

-HECW1chr7

43580762

+

Top

FusionProtFeatures for COA1_HECW1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COA1

Q9GZY4

HECW1

Q76N89

Component of the MITRAC (mitochondrial translationregulation assembly intermediate of cytochrome c oxidase complex)complex, that regulates cytochrome c oxidase assembly. MITRACcomplexes regulate both translation of mitochondrial encodedcomponents and assembly of nuclear-encoded components imported inmitochondrion. Required for assembly of mitochondrial respiratorychain complex I and complex IV. {ECO:0000269|PubMed:23260140}. E3 ubiquitin-protein ligase that mediates ubiquitinationand subsequent degradation of DVL1. Also targets the mutant SOD1protein involved in familial amyotrophic lateral sclerosis (FALS).Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 thatlead to motor neuron death in FALS. {ECO:0000269|PubMed:14684739}.

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 COA1_HECW1


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 COA1_HECW1


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
COA1COX17, COA6, COPS6, RFWD3, MCOLN3, POLR2M, SLC23A2, ECSIT, ZACN, ACAD9, HTR3A, SLC9A6, RNF185, NCDN, PHLPP1HECW1DVL1, SSR4, SOD1, SCNN1A, SCNN1B, TNK2, CACNA1A, TP53, RNF43, GFI1B, USP7, FBXL15, HECW2, LDLRAD4, MPHOSPH8, UBC, UBE2D1, UBE2D2, UBE2D3, UBE2L3, HECW1, UBE2J2, FAM189B


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 COA1_HECW1


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 COA1_HECW1


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