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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: 2372

FusionGeneSummary for ARHGAP12_SVIL

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP12_SVIL
Fusion gene ID: 2372
HgeneTgene
Gene symbol

ARHGAP12

SVIL

Gene ID

94134

6840

Gene nameRho GTPase activating protein 12supervillin
Synonyms--
Cytomap

10p11.22

10p11.23

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 12rho-type GTPase-activating protein 12supervillinarchvillinmembrane-associated F-actin binding protein p205p205/p250
Modification date2018052320180519
UniProtAcc

Q8IWW6

O95425

Ensembl transtripts involved in fusion geneENST00000311380, ENST00000375250, 
ENST00000492028, ENST00000344936, 
ENST00000396144, ENST00000375245, 
ENST00000375400, ENST00000375398, 
ENST00000355867, ENST00000535393, 
ENST00000460007, ENST00000538146, 
Fusion gene scores* DoF score5 X 5 X 5=12510 X 8 X 5=400
# samples 712
** MAII scorelog2(7/125*10)=-0.836501267717121
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/400*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP12 [Title/Abstract] AND SVIL [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
TCGARVPRADTCGA-YL-A8SA-01AARHGAP12chr10

32115232

-SVILchr10

29975580

-
* 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-5UTRENST00000311380ENST00000375400ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000311380ENST00000375398ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000311380ENST00000355867ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000311380ENST00000535393ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000311380ENST00000460007ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000311380ENST00000538146ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000375250ENST00000375400ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000375250ENST00000375398ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375250ENST00000355867ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375250ENST00000535393ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375250ENST00000460007ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375250ENST00000538146ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5UTR-5UTRENST00000492028ENST00000375400ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5UTR-5UTRENST00000492028ENST00000375398ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5UTR-intronENST00000492028ENST00000355867ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5UTR-intronENST00000492028ENST00000535393ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5UTR-intronENST00000492028ENST00000460007ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5UTR-intronENST00000492028ENST00000538146ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000344936ENST00000375400ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000344936ENST00000375398ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000344936ENST00000355867ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000344936ENST00000535393ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000344936ENST00000460007ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000344936ENST00000538146ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000396144ENST00000375400ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000396144ENST00000375398ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000396144ENST00000355867ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000396144ENST00000535393ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000396144ENST00000460007ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000396144ENST00000538146ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000375245ENST00000375400ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-5UTRENST00000375245ENST00000375398ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375245ENST00000355867ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375245ENST00000535393ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375245ENST00000460007ARHGAP12chr10

32115232

-SVILchr10

29975580

-
5CDS-intronENST00000375245ENST00000538146ARHGAP12chr10

32115232

-SVILchr10

29975580

-

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FusionProtFeatures for ARHGAP12_SVIL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGAP12

Q8IWW6

SVIL

O95425

Isoform 1: Forms a high-affinity link between the actincytoskeleton and the membrane. Is among the first costamericproteins to assemble during myogenesis and it contributes tomyogenic membrane structure and differentiation (PubMed:12711699).Appears to be involved in myosin II assembly. May modulate myosinII regulation through MLCK during cell spreading, an initial stepin cell migration. May play a role in invadopodial function(PubMed:19109420). {ECO:0000269|PubMed:12711699,ECO:0000269|PubMed:19109420}. Isoform 2: May be involved in modulation of focaladhesions. Supervillin-mediated down-regulation of focal adhesionsinvolves binding to TRIP6. Plays a role in cytokinesis throughKIF14 interaction (By similarity). {ECO:0000250|UniProtKB:O46385}.

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 ARHGAP12_SVIL


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 ARHGAP12_SVIL


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
ARHGAP12GRB2, MAPK11, SRPK2, SRPK1, TRIP10, XPO1, MUC5B, BPIFB1, DMBT1, IGHA1SVILLUC7L2, AR, ESR1, PPARG, NR3C1, KRT18, MIF4GD, UXT, ITGB3BP, BUB1, CENPF, FLNA, HAX1, HSP90AA1, KIFC3, LMNA, LMNB2, MPHOSPH9, NME2, ODF2, PAN3, PCNXL3, HMMR, TNFAIP1, LIMA1, ATRX, KIF14, MKL2, KMT2A, SH3PXD2A, KIF22, STARD9, SCAF4, OXCT1, VCL, COA7, PCMT1, SEPT9, NDUFV2, CFTR, TRIP6, DYNLT1, SPTBN1, SPTAN1, MYH2, CLTC, MYO1G, ACTN4, ACTN1, VIM, LYN, FLOT1, FLOT2, ACTB, GNAI1, GNB1, STOM, GPSM3, MYL12A, CALM1, GLIPR2, PAN2, HDAC8, ASB15, ASB16, USP7, CCDC8, DAPK1, LUZP4, CAPZA2, KRAS, IFI16, NINL, NIN, ADD1, CD14, CDK2, CENPE, DBN1, LLGL2, MYH9, MYH11, MYO1C, PPP1CB, PPP1CC, DNAJC7, MYH13, IQGAP1, PDLIM7, ACTR2, NES, SYNPO, MAPRE1, ANLN, MYO5C, MYO19, KLC3, MYO18A, CFAP97, CDH1, SSH1, TMOD3, TES


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 ARHGAP12_SVIL


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 ARHGAP12_SVIL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSVILC0023467Leukemia, Myelocytic, Acute1CTD_human