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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: 2434

FusionGeneSummary for ARHGAP32_AHNAK

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP32_AHNAK
Fusion gene ID: 2434
HgeneTgene
Gene symbol

ARHGAP32

AHNAK

Gene ID

9743

79026

Gene nameRho GTPase activating protein 32AHNAK nucleoprotein
SynonymsGC-GAP|GRIT|PX-RICS|RICS|p200RhoGAP|p250GAPAHNAKRS|PM227
Cytomap

11q24.3

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 32GAB-associated CDC42GAB-associated Cdc42/Rac GTPase-activating proteinGTPase regulator interacting with TrkAGTPase-activating protein for Cdc42 and Rac1RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaneuroblast differentiation-associated protein AHNAKAHNAK-relateddesmoyokin
Modification date2018052320180523
UniProtAcc

A7KAX9

Q09666

Ensembl transtripts involved in fusion geneENST00000310343, ENST00000524655, 
ENST00000392657, ENST00000527272, 
ENST00000530124, ENST00000257247, 
ENST00000525875, ENST00000378024, 
Fusion gene scores* DoF score9 X 7 X 4=25215 X 10 X 5=750
# samples 916
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/750*10)=-2.22881869049588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP32 [Title/Abstract] AND AHNAK [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TCGALDBRCATCGA-A8-A06Z-01AARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
* 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
In-frameENST00000310343ENST00000530124ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
Frame-shiftENST00000310343ENST00000257247ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
5CDS-5UTRENST00000310343ENST00000525875ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
5CDS-intronENST00000310343ENST00000378024ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
In-frameENST00000524655ENST00000530124ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
Frame-shiftENST00000524655ENST00000257247ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
5CDS-5UTRENST00000524655ENST00000525875ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
5CDS-intronENST00000524655ENST00000378024ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-3CDSENST00000392657ENST00000530124ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-3CDSENST00000392657ENST00000257247ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-5UTRENST00000392657ENST00000525875ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-intronENST00000392657ENST00000378024ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-3CDSENST00000527272ENST00000530124ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-3CDSENST00000527272ENST00000257247ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-5UTRENST00000527272ENST00000525875ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-
intron-intronENST00000527272ENST00000378024ARHGAP32chr11

128993341

-AHNAKchr11

62201363

-

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FusionProtFeatures for ARHGAP32_AHNAK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGAP32

A7KAX9

AHNAK

Q09666

GTPase-activating protein (GAP) promoting GTP hydrolysison RHOA, CDC42 and RAC1 small GTPases. May be involved in thedifferentiation of neuronal cells during the formation of neuriteextensions. Involved in NMDA receptor activity-dependent actinreorganization in dendritic spines. May mediate cross-talksbetween Ras- and Rho-regulated signaling pathways in cell growthregulation. Isoform 2 has higher GAP activity (By similarity).{ECO:0000250, ECO:0000269|PubMed:12446789,ECO:0000269|PubMed:12454018, ECO:0000269|PubMed:12531901,ECO:0000269|PubMed:12788081, ECO:0000269|PubMed:12819203,ECO:0000269|PubMed:12857875, ECO:0000269|PubMed:17663722}. May be required for neuronal cell differentiation.

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
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-465458_5654147150Compositional biasNote=Gly-rich
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-055458_5654-925891Compositional biasNote=Gly-rich
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-059_90-925891DomainPDZ
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-464971_4979147150MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-465019_5027147150MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-465034_5039147150MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-465706_5716147150MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-465772_5779147150MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-054971_4979-925891MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-055019_5027-925891MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-055034_5039-925891MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-055706_5716-925891MotifNuclear localization signal
TgeneAHNAKchr11:128993341chr11:62201363ENST00000378024-055772_5779-925891MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-4221031_10361342088Compositional biasNote=Poly-Pro
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-4221305_13101342088Compositional biasNote=Poly-Pro
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-1131031_1036-1271739Compositional biasNote=Poly-Pro
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-1131305_1310-1271739Compositional biasNote=Poly-Pro
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-1121031_1036-121739Compositional biasNote=Poly-Pro
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-1121305_1310-121739Compositional biasNote=Poly-Pro
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-422131_2451342088DomainNote=PX%3B atypical
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-422259_3211342088DomainSH3
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-422372_5671342088DomainRho-GAP
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-113131_245-1271739DomainNote=PX%3B atypical
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-113259_321-1271739DomainSH3
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-113372_567-1271739DomainRho-GAP
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-112131_245-121739DomainNote=PX%3B atypical
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-112259_321-121739DomainSH3
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-112372_567-121739DomainRho-GAP
TgeneAHNAKchr11:128993341chr11:62201363ENST00000257247-469_90147150DomainPDZ


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FusionGeneSequence for ARHGAP32_AHNAK


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.
>In-frame_ARHGAP32_ENST00000310343_chr11_128993341_-_AHNAK_ENST00000530124_chr11_62201363_-_152aa
METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTL

>In-frame_ARHGAP32_ENST00000524655_chr11_128993341_-_AHNAK_ENST00000530124_chr11_62201363_-_78aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ARHGAP32_ENST00000310343_chr11_128993341_-_AHNAK_ENST00000530124_chr11_62201363_-_456nt
ATGGAGACTGAAAGTGAGAGTAGCACTTTAGGGGATGACAGTGTCTTCTGGTTGGAGTCTGAAGTTATAATCCAGGTGACTGACTGTGAA
GAGGAAGAAAGGGAAGAGAAGTTCAGGAAGATGAAGTCCTCAGTACATTCTGAAGAAGATGATTTTGTTCCAGAGCTACATAGAAATGTA
CACCCTCGAGAGCGGCCTGATTGGGAAGAAACTCTTAGCGCAATGGCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTT
AAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTGAAAAAGTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGT
GCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAGGACTGTAGAAGCGGCCAGGAAGAAAACCACCCCCTCTTAAGGTTGTTT

>In-frame_ARHGAP32_ENST00000524655_chr11_128993341_-_AHNAK_ENST00000530124_chr11_62201363_-_234nt
ATGGCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTTAAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTG
AAAAAGTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGTGCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ARHGAP32_ENST00000310343_chr11_128993341_-_AHNAK_ENST00000530124_chr11_62201363_-_750nt
ATGGAGACTGAAAGTGAGAGTAGCACTTTAGGGGATGACAGTGTCTTCTGGTTGGAGTCTGAAGTTATAATCCAGGTGACTGACTGTGAA
GAGGAAGAAAGGGAAGAGAAGTTCAGGAAGATGAAGTCCTCAGTACATTCTGAAGAAGATGATTTTGTTCCAGAGCTACATAGAAATGTA
CACCCTCGAGAGCGGCCTGATTGGGAAGAAACTCTTAGCGCAATGGCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTT
AAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTGAAAAAGTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGT
GCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAGGACTGTAGAAGCGGCCAGGAAGAAAACCACCCCCTCTTAAGGTTGTTT
TTGTGACCGTTCTTTGGAGCATTGTTCTAAAAATGGGAAATTACATATTGCTGTGCCAAGGGCAACAAACACCTGCAGTTAAAGGAATAC
CTTCCGCGAGGCGGCTTTTCGGAGCATGCATGTTTATAGCTCCAGCCAGGCCAGACCGAGGGCTGCTGCATAAGCCCTGCTTGGTGCATT
TCTTTACTTGCAAGGGGACAGAGTGTGGGCTTAGGTTTGGGACTAGAGGGGGCTTTGGCAACTATGGTGCTCAGGTGATTATCCTTCGCT

>In-frame_ARHGAP32_ENST00000524655_chr11_128993341_-_AHNAK_ENST00000530124_chr11_62201363_-_552nt
GATTGGGAAGAAACTCTTAGCGCAATGGCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTTAAGACGTGTGGCAGTACA
GCCAGTATGAAGGTTAAGCATGTGAAAAAGTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGTGCGCATTTCCATTATGAG
AATGTTGAGTTCGGCAGCATACAGGACTGTAGAAGCGGCCAGGAAGAAAACCACCCCCTCTTAAGGTTGTTTTTGTGACCGTTCTTTGGA
GCATTGTTCTAAAAATGGGAAATTACATATTGCTGTGCCAAGGGCAACAAACACCTGCAGTTAAAGGAATACCTTCCGCGAGGCGGCTTT
TCGGAGCATGCATGTTTATAGCTCCAGCCAGGCCAGACCGAGGGCTGCTGCATAAGCCCTGCTTGGTGCATTTCTTTACTTGCAAGGGGA
CAGAGTGTGGGCTTAGGTTTGGGACTAGAGGGGGCTTTGGCAACTATGGTGCTCAGGTGATTATCCTTCGCTCGTTTATCCAATAAACAT


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FusionGenePPI for ARHGAP32_AHNAK


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
ARHGAP32SFN, GRIN2B, RHOA, CDC42, GAB2, GAB1, RAC1, CRK, NCK1, BCAR1, FYN, NTRK1, CRKL, SHC2, SHC3, SRC, PLCG1, PIK3R1, GRB2, ARRB1, NPHP1, ATXN1, FZR1, SMURF1, AES, MDFI, NCK2, DZIP3, ABI2, LZTS2, NXF1, EGFR, SHC1, ZWINT, HNRNPD, SORT1, SYNCRIP, SGTB, CDH1, PTPRK, ASB3, TRIM25AHNAKEZR, S100B, EGFR, SIRT7, ISG15, POT1, CDK2, GRB2, HNRNPD, ESR1, DMD, FMNL1, FN1, ATF2, ATP4A, TARDBP, BAG2, RPA1, RPA2, RPA3, KLHL40, AHNAK, NOL9, NXF1, CUL7, OBSL1, CCDC8, SUMO2, JSRP1, S100A10, ACTN4, ASNS, C14orf166, CDC42, EEF1B2, EEF1D, GORASP2, GRPEL1, HSPA9, HSPB1, LASP1, MYL6, OXCT1, STMN1, TARS, ARHGDIA, CCT5, EEF1A1, EEF2, FLNB, HNRNPAB, HNRNPDL, HNRNPH1, PSME3, RUVBL1, SEC16A, STIP1, VARS, YARS, MED4, CAPZA2, HSPA5, MYH9, STRN, LIMA1, MYO19, TUBA1C, SKI, MCM2, SNW1, CDC5L, U2AF2, ZNF131, CDH1, PPP3CB, HSD17B3, PMS1, ING2, GJB7, ALPPL2, PCK2, GPR141, PYCR2, SDC1, POLH, USP14, ZNF517, RFPL2, PCDHGC3, GALK2, PLEC, PPIP5K2, CYLD, TRIM25, BRCA1, YAP1, TXNIP


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
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-4221685_20871342088FYN
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-1131685_2087-1271739FYN
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-1121685_2087-121739FYN
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000310343-4221391_17111342088GAB2
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000392657-1131391_1711-1271739GAB2
HgeneARHGAP32chr11:128993341chr11:62201363ENST00000527272-1121391_1711-121739GAB2


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ARHGAP32_AHNAK


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 ARHGAP32_AHNAK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGAP32C0036341Schizophrenia1PSYGENET
TgeneAHNAKC0007134Renal Cell Carcinoma1CTD_human
TgeneAHNAKC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAHNAKC0263454Chloracne1CTD_human