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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: 4803

FusionGeneSummary for C19orf48_CCDC9

check button Fusion gene summary
Fusion gene informationFusion gene name: C19orf48_CCDC9
Fusion gene ID: 4803
HgeneTgene
Gene symbol

C19orf48

CCDC9

Gene ID

84798

26093

Gene namechromosome 19 open reading frame 48coiled-coil domain containing 9
Synonyms--
Cytomap

19q13.33

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C19orf48multidrug resistance-related proteincoiled-coil domain-containing protein 9
Modification date2018032920180519
UniProtAcc

Q6RUI8

Q9Y3X0

Ensembl transtripts involved in fusion geneENST00000598463, ENST00000345523, 
ENST00000391812, ENST00000596655, 
ENST00000595794, 
ENST00000601154, 
ENST00000221922, 
Fusion gene scores* DoF score4 X 4 X 2=323 X 3 X 3=27
# samples 43
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C19orf48 [Title/Abstract] AND CCDC9 [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
TCGALDPRADTCGA-KK-A8IC-01AC19orf48chr19

51305474

-CCDC9chr19

47759780

+
* 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
5UTR-3UTRENST00000598463ENST00000601154C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-5UTRENST00000598463ENST00000221922C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-3UTRENST00000345523ENST00000601154C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-5UTRENST00000345523ENST00000221922C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-3UTRENST00000391812ENST00000601154C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-5UTRENST00000391812ENST00000221922C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-3UTRENST00000596655ENST00000601154C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-5UTRENST00000596655ENST00000221922C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-3UTRENST00000595794ENST00000601154C19orf48chr19

51305474

-CCDC9chr19

47759780

+
5UTR-5UTRENST00000595794ENST00000221922C19orf48chr19

51305474

-CCDC9chr19

47759780

+

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FusionProtFeatures for C19orf48_CCDC9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C19orf48

Q6RUI8

CCDC9

Q9Y3X0


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 C19orf48_CCDC9


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 C19orf48_CCDC9


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
C19orf48CCDC9TERF1, TINF2, POT1, MAGOH, EIF4A3, ARL6IP4, PRPF40A, VTI1B, RALYL, LUC7L2, SNIP1, ID1, THOC5, RBM8A, THOC2, THOC7, PNN, WSB2, SARNP, C11orf57, TMEM184B, ELAVL2, PIP4K2A


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 C19orf48_CCDC9


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 C19orf48_CCDC9


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