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Center for Computational Systems Medicine
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FusionGeneSummary

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Fusion gene ID: 27802

FusionGeneSummary for PMPCA_GATAD2A

check button Fusion gene summary
Fusion gene informationFusion gene name: PMPCA_GATAD2A
Fusion gene ID: 27802
HgeneTgene
Gene symbol

PMPCA

GATAD2A

Gene ID

23203

54815

Gene namepeptidase, mitochondrial processing alpha subunitGATA zinc finger domain containing 2A
SynonymsAlpha-MPP|CLA1|CPD3|INPP5E|P-55|SCAR2p66alpha
Cytomap

9q34.3

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial-processing peptidase subunit alphaCerebellar ataxia-1cerebellar ataxia 1 (autosomal recessive)inositol polyphosphate-5-phosphatase, 72 kDmitochondrial matrix processing protease, alpha subunittranscriptional repressor p66-alphaGATA zinc finger domain-containing protein 2A
Modification date2018052320180523
UniProtAcc

Q10713

Q86YP4

Ensembl transtripts involved in fusion geneENST00000371720, ENST00000371717, 
ENST00000399219, ENST00000462616, 
ENST00000252577, ENST00000360315, 
ENST00000537887, ENST00000404158, 
ENST00000358713, ENST00000429563, 
ENST00000473184, 
Fusion gene scores* DoF score2 X 2 X 1=48 X 7 X 7=392
# samples 29
** MAII scorelog2(2/4*10)=2.32192809488736log2(9/392*10)=-2.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PMPCA [Title/Abstract] AND GATAD2A [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
TgeneGATAD2A

GO:0045892

negative regulation of transcription, DNA-templated

12183469


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
ChiTaRS3.1M78956PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
* 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-intronENST00000371720ENST00000252577PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000371720ENST00000360315PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000371720ENST00000537887PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000371720ENST00000404158PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000371720ENST00000358713PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000371720ENST00000429563PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000371720ENST00000473184PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000252577PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000360315PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000537887PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000404158PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000358713PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000429563PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000371717ENST00000473184PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000252577PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000360315PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000537887PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000404158PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000358713PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000429563PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
3UTR-intronENST00000399219ENST00000473184PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000252577PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000360315PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000537887PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000404158PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000358713PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000429563PMPCAchr9

139317962

-GATAD2Achr19

19619740

-
intron-intronENST00000462616ENST00000473184PMPCAchr9

139317962

-GATAD2Achr19

19619740

-

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FusionProtFeatures for PMPCA_GATAD2A


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

Q10713

GATAD2A

Q86YP4