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Center for Computational Systems Medicine
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FusionGeneSummary

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Fusion gene ID: 8416

FusionGeneSummary for CREB5_APH1A

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB5_APH1A
Fusion gene ID: 8416
HgeneTgene
Gene symbol

CREB5

APH1A

Gene ID

9586

51107

Gene namecAMP responsive element binding protein 5aph-1 homolog A, gamma-secretase subunit
SynonymsCRE-BPA|CREB-56530402N02Rik|APH-1|APH-1A|CGI-78
Cytomap

7p15.1

1q21.2

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 5cAMP response element-binding protein CRE-BPagamma-secretase subunit APH-1AAPH1A gamma secretase subunitanterior pharynx defective 1 homolog Aaph-1alphapresenilin-stabilization factor
Modification date2018051920180523
UniProtAcc

Q02930

Q96BI3

Ensembl transtripts involved in fusion geneENST00000396299, ENST00000357727, 
ENST00000396300, ENST00000409603, 
ENST00000396298, ENST00000482692, 
ENST00000369109, ENST00000360244, 
ENST00000414276, ENST00000461320, 
Fusion gene scores* DoF score6 X 5 X 5=1502 X 2 X 2=8
# samples 63
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/8*10)=1.90689059560852
Context

PubMed: CREB5 [Title/Abstract] AND APH1A [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
HgeneCREB5

GO:0045893

positive regulation of transcription, DNA-templated

8378084

TgeneAPH1A

GO:0006509

membrane protein ectodomain proteolysis

15274632

TgeneAPH1A

GO:0016485

protein processing

15274632

TgeneAPH1A

GO:0042982

amyloid precursor protein metabolic process

25043039|26280335

TgeneAPH1A

GO:0043085

positive regulation of catalytic activity

15274632


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
TCGALDPCPGTCGA-QT-A5XO-01ACREB5chr7

28763949

+APH1Achr1

150241729

-
* 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
5CDS-intronENST00000396299ENST00000369109CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396299ENST00000360244CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396299ENST00000414276CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396299ENST00000461320CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000357727ENST00000369109CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000357727ENST00000360244CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000357727ENST00000414276CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000357727ENST00000461320CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396300ENST00000369109CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396300ENST00000360244CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396300ENST00000414276CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396300ENST00000461320CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000409603ENST00000369109CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000409603ENST00000360244CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000409603ENST00000414276CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000409603ENST00000461320CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396298ENST00000369109CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396298ENST00000360244CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396298ENST00000414276CREB5chr7

28763949

+APH1Achr1

150241729

-
5CDS-intronENST00000396298ENST00000461320CREB5chr7

28763949

+APH1Achr1

150241729

-
intron-intronENST00000482692ENST00000369109CREB5chr7

28763949

+APH1Achr1

150241729

-
intron-intronENST00000482692ENST00000360244CREB5chr7

28763949

+APH1Achr1

150241729

-
intron-intronENST00000482692ENST00000414276CREB5chr7

28763949

+APH1Achr1

150241729

-
intron-intronENST00000482692ENST00000461320CREB5chr7

28763949

+APH1Achr1

150241729

-

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FusionProtFeatures for CREB5_APH1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CREB5

Q02930

APH1A

Q96BI3