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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: 30269

FusionGeneSummary for RALGAPA2_BTBD3

check button Fusion gene summary
Fusion gene informationFusion gene name: RALGAPA2_BTBD3
Fusion gene ID: 30269
HgeneTgene
Gene symbol

RALGAPA2

BTBD3

Gene ID

57186

22903

Gene nameRal GTPase activating protein catalytic alpha subunit 2BTB domain containing 3
SynonymsAS250|C20orf74|bA287B20.1|dJ1049G11|dJ1049G11.4|p220dJ742J24.1
Cytomap

20p11.23

20p12.2

Type of geneprotein-codingprotein-coding
Descriptionral GTPase-activating protein subunit alpha-2250 kDa substrate of AktRal GTPase activating protein, alpha subunit 2 (catalytic)RapGAPalpha2akt substrate AS250ral GTPase-activating protein alpha subunit 2BTB/POZ domain-containing protein 3BTB (POZ) domain containing 3
Modification date2018052320180523
UniProtAcc

Q2PPJ7

Q9Y2F9

Ensembl transtripts involved in fusion geneENST00000202677, ENST00000495793, 
ENST00000254977, ENST00000399006, 
ENST00000405977, ENST00000378226, 
ENST00000488503, 
Fusion gene scores* DoF score7 X 5 X 6=2102 X 1 X 2=4
# samples 82
** MAII scorelog2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: RALGAPA2 [Title/Abstract] AND BTBD3 [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
TCGARVREADTCGA-EI-6514-01ARALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
* 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-5UTRENST00000202677ENST00000254977RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
5CDS-5UTRENST00000202677ENST00000399006RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
5CDS-5UTRENST00000202677ENST00000405977RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
5CDS-5UTRENST00000202677ENST00000378226RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
5CDS-intronENST00000202677ENST00000488503RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
intron-5UTRENST00000495793ENST00000254977RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
intron-5UTRENST00000495793ENST00000399006RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
intron-5UTRENST00000495793ENST00000405977RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
intron-5UTRENST00000495793ENST00000378226RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+
intron-intronENST00000495793ENST00000488503RALGAPA2chr20

20656880

-BTBD3chr20

11898982

+

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FusionProtFeatures for RALGAPA2_BTBD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RALGAPA2

Q2PPJ7

BTBD3

Q9Y2F9

Acts as a key regulator of dendritic field orientationduring development of sensory cortex. Also directs dendritestoward active axon terminals when ectopically expressed (Bysimilarity). {ECO:0000250}.

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 RALGAPA2_BTBD3


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 RALGAPA2_BTBD3


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
RALGAPA2GFOD1, SPRTN, NKIRAS2, DPH7, MTMR7BTBD3PLXNB3, ELAVL1, CLTC, SEC16A, GTSE1, TRIM25


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 RALGAPA2_BTBD3


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 RALGAPA2_BTBD3


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