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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: 5057

FusionGeneSummary for C6orf48_COMMD2

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf48_COMMD2
Fusion gene ID: 5057
HgeneTgene
Gene symbol

C6orf48

COMMD2

Gene ID

50854

51122

Gene namechromosome 6 open reading frame 48COMM domain containing 2
SynonymsD6S57|G8HSPC042
Cytomap

6p21.33

3q25.1

Type of geneprotein-codingprotein-coding
Descriptionprotein G8COMM domain-containing protein 2
Modification date2018051920180519
UniProtAcc

Q9UBA6

Q86X83

Ensembl transtripts involved in fusion geneENST00000375640, ENST00000375641, 
ENST00000375638, ENST00000375635, 
ENST00000375639, ENST00000375642, 
ENST00000395789, ENST00000375633, 
ENST00000395788, ENST00000424962, 
ENST00000456268, ENST00000435938, 
ENST00000433752, ENST00000458514, 
ENST00000549426, ENST00000550200, 
ENST00000430690, ENST00000436558, 
ENST00000456690, ENST00000439907, 
ENST00000444974, ENST00000439865, 
ENST00000413638, ENST00000423640, 
ENST00000444192, ENST00000551797, 
ENST00000552514, ENST00000440361, 
ENST00000443974, ENST00000416886, 
ENST00000436205, ENST00000450610, 
ENST00000433697, ENST00000414434, 
ENST00000421605, ENST00000444331, 
ENST00000551957, ENST00000550492, 
ENST00000423916, ENST00000436495, 
ENST00000426843, ENST00000421039, 
ENST00000414536, ENST00000400038, 
ENST00000383384, ENST00000383385, 
ENST00000383383, ENST00000547624, 
ENST00000550685, ENST00000400037, 
ENST00000400035, ENST00000400034, 
ENST00000400039, 		ENST00000473414, 
Fusion gene scores* DoF score9 X 7 X 3=1893 X 3 X 2=18
# samples 103
** MAII scorelog2(10/189*10)=-0.918386234446348
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C6orf48 [Title/Abstract] AND COMMD2 [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
ChiTaRS3.1BG493098C6orf48chr6

3096425

+COMMD2chr3

149457194

-
* 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-3UTRENST00000375640ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000375641ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000375638ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000375635ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000375639ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000375642ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000395789ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000375633ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000395788ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000424962ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000456268ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000435938ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000433752ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000458514ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000549426ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000550200ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000430690ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000436558ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000456690ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000439907ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000444974ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000439865ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000413638ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000423640ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000444192ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000551797ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000552514ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000440361ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000443974ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000416886ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000436205ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000450610ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000433697ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000414434ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000421605ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000444331ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000551957ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000550492ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000423916ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000436495ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000426843ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000421039ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5UTR-3UTRENST00000414536ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000400038ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5UTR-3UTRENST00000383384ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5UTR-3UTRENST00000383385ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5UTR-3UTRENST00000383383ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5CDS-3UTRENST00000547624ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5CDS-3UTRENST00000550685ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5UTR-3UTRENST00000400037ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
5UTR-3UTRENST00000400035ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000400034ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-
intron-3UTRENST00000400039ENST00000473414C6orf48chr6

3096425

+COMMD2chr3

149457194

-

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FusionProtFeatures for C6orf48_COMMD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C6orf48

Q9UBA6

COMMD2

Q86X83

May modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes (PubMed:21778237). May down-regulate activation ofNF-kappa-B (PubMed:15799966). {ECO:0000269|PubMed:15799966,ECO:0000305|PubMed:21778237}.

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 C6orf48_COMMD2


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 C6orf48_COMMD2


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 C6orf48_COMMD2


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 C6orf48_COMMD2


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