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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: 1062

FusionGeneSummary for AGAP1_SORBS2

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP1_SORBS2
Fusion gene ID: 1062
HgeneTgene
Gene symbol

AGAP1

SORBS2

Gene ID

116987

8470

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 1sorbin and SH3 domain containing 2
SynonymsAGAP-1|CENTG2|GGAP1|cnt-g2ARGBP2|PRO0618
Cytomap

2q37.2

4q35.1

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1GTP-binding and GTPase-activating protein 1centaurin, gamma 2sorbin and SH3 domain-containing protein 2Arg binding protein 2Arg/Abl-interacting protein 2arg-binding protein 2
Modification date2018052320180523
UniProtAcc

Q9UPQ3

O94875

Ensembl transtripts involved in fusion geneENST00000336665, ENST00000304032, 
ENST00000409538, ENST00000428334, 
ENST00000409457, 
ENST00000448662, 
ENST00000431808, ENST00000284776, 
ENST00000437304, ENST00000319471, 
ENST00000449407, ENST00000355634, 
ENST00000393528, ENST00000418609, 
ENST00000498125, 
Fusion gene scores* DoF score25 X 11 X 14=385011 X 12 X 7=924
# samples 2615
** MAII scorelog2(26/3850*10)=-3.88827491744117
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/924*10)=-2.62293035092018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGAP1 [Title/Abstract] AND SORBS2 [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
ChiTaRS3.1BE827936AGAP1chr2

236702727

+SORBS2chr4

186507136

-
* 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-3UTRENST00000336665ENST00000448662AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000336665ENST00000431808AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000336665ENST00000284776AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000336665ENST00000437304AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000336665ENST00000319471AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000336665ENST00000449407AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000336665ENST00000355634AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000336665ENST00000393528AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000336665ENST00000418609AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000336665ENST00000498125AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000304032ENST00000448662AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000304032ENST00000431808AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000304032ENST00000284776AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000304032ENST00000437304AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000304032ENST00000319471AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000304032ENST00000449407AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000304032ENST00000355634AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000304032ENST00000393528AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000304032ENST00000418609AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000304032ENST00000498125AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409538ENST00000448662AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409538ENST00000431808AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409538ENST00000284776AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409538ENST00000437304AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409538ENST00000319471AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409538ENST00000449407AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409538ENST00000355634AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409538ENST00000393528AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409538ENST00000418609AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409538ENST00000498125AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000428334ENST00000448662AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000428334ENST00000431808AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000428334ENST00000284776AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000428334ENST00000437304AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000428334ENST00000319471AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000428334ENST00000449407AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000428334ENST00000355634AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000428334ENST00000393528AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000428334ENST00000418609AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000428334ENST00000498125AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409457ENST00000448662AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409457ENST00000431808AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409457ENST00000284776AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409457ENST00000437304AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409457ENST00000319471AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409457ENST00000449407AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409457ENST00000355634AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409457ENST00000393528AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-3UTRENST00000409457ENST00000418609AGAP1chr2

236702727

+SORBS2chr4

186507136

-
intron-intronENST00000409457ENST00000498125AGAP1chr2

236702727

+SORBS2chr4

186507136

-

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FusionProtFeatures for AGAP1_SORBS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGAP1

Q9UPQ3

SORBS2

O94875

GTPase-activating protein for ARF1 and, to a lesserextent, ARF5. Directly and specifically regulates the adapterprotein 3 (AP-3)-dependent trafficking of proteins in theendosomal-lysosomal system. {ECO:0000269|PubMed:12640130}.

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 AGAP1_SORBS2


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 AGAP1_SORBS2


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


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 AGAP1_SORBS2


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 AGAP1_SORBS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGAP1C0004352Autistic Disorder1CTD_human
TgeneSORBS2C0043094Weight Gain1CTD_human