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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: 5909

FusionGeneSummary for CCDC80_SLC24A5

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC80_SLC24A5
Fusion gene ID: 5909
HgeneTgene
Gene symbol

CCDC80

SLC24A5

Gene ID

151887

283652

Gene namecoiled-coil domain containing 80solute carrier family 24 member 5
SynonymsDRO1|SSG1|URB|okuribinJSX|NCKX5|OCA6|SHEP4
Cytomap

3q13.2

15q21.1

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 80down-regulated by oncogenes protein 1nuclear envelope protein okuribinsteroid sensitive gene 1up-regulated in BRS-3 deficient mouse homologsodium/potassium/calcium exchanger 5Na(+)/K(+)/Ca(2+)-exchange protein 5ion transporter JSXoculocutaneous albinism 6 (autosomal recessive)solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
Modification date2018051920180523
UniProtAcc

Q76M96

Q71RS6

Ensembl transtripts involved in fusion geneENST00000206423, ENST00000439685, 
ENST00000475181, 
ENST00000341459, 
ENST00000482911, ENST00000449382, 
Fusion gene scores* DoF score6 X 7 X 2=843 X 3 X 2=18
# samples 73
** MAII scorelog2(7/84*10)=-0.263034405833794
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: CCDC80 [Title/Abstract] AND SLC24A5 [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
TgeneSLC24A5

GO:0034220

ion transmembrane transport

18166528


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
ChiTaRS3.1AA625303CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
* 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-3CDSENST00000206423ENST00000341459CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-intronENST00000206423ENST00000482911CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-intronENST00000206423ENST00000449382CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-3CDSENST00000439685ENST00000341459CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-intronENST00000439685ENST00000482911CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-intronENST00000439685ENST00000449382CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-3CDSENST00000475181ENST00000341459CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-intronENST00000475181ENST00000482911CCDC80chr3

112324124

-SLC24A5chr15

48433369

+
intron-intronENST00000475181ENST00000449382CCDC80chr3

112324124

-SLC24A5chr15

48433369

+

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FusionProtFeatures for CCDC80_SLC24A5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC80

Q76M96

SLC24A5

Q71RS6

Promotes cell adhesion and matrix assembly.{ECO:0000250}. Cation exchanger involved in pigmentation, possibly byparticipating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).{ECO:0000269|PubMed:16357253, ECO:0000269|PubMed:18166528}.

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 CCDC80_SLC24A5


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 CCDC80_SLC24A5


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 CCDC80_SLC24A5


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 CCDC80_SLC24A5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCDC80C0011615Dermatitis, Atopic1CTD_human
HgeneCCDC80C4277682Chemical and Drug Induced Liver Injury1CTD_human