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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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RelatedDiseases

Fusion gene ID: 5865

FusionGeneSummary for CCDC53_C19orf48

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC53_C19orf48
Fusion gene ID: 5865
HgeneTgene
Gene symbol

CCDC53

C19orf48

Gene ID

51019

84798

Gene nameWASH complex subunit 3chromosome 19 open reading frame 48
SynonymsCCDC53|CGI-116-
Cytomap

12q23.2

19q13.33

Type of geneprotein-codingprotein-coding
DescriptionWASH complex subunit 3WASH complex subunit CCDC53coiled-coil domain containing 53coiled-coil domain-containing protein 53uncharacterized protein C19orf48multidrug resistance-related protein
Modification date2018052220180329
UniProtAcc

Q6RUI8

Ensembl transtripts involved in fusion geneENST00000240079, ENST00000545679, 
ENST00000539515, 
ENST00000598463, 
ENST00000345523, ENST00000391812, 
ENST00000596655, ENST00000595794, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: CCDC53 [Title/Abstract] AND C19orf48 [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
ChiTaRS3.1BF921302CCDC53chr12

102455797

+C19orf48chr19

51302029

-
* 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-5UTRENST00000240079ENST00000598463CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000240079ENST00000345523CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000240079ENST00000391812CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000240079ENST00000596655CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000240079ENST00000595794CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000545679ENST00000598463CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000545679ENST00000345523CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000545679ENST00000391812CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000545679ENST00000596655CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000545679ENST00000595794CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000539515ENST00000598463CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000539515ENST00000345523CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000539515ENST00000391812CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000539515ENST00000596655CCDC53chr12

102455797

+C19orf48chr19

51302029

-
intron-5UTRENST00000539515ENST00000595794CCDC53chr12

102455797

+C19orf48chr19

51302029

-

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FusionProtFeatures for CCDC53_C19orf48


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC53

C19orf48

Q6RUI8