Evidence Details for ARHGAP32
Basic Information Top
| Gene Symbol: | ARHGAP32 ( GC-GAP,GRIT,KIAA0712,MGC1892,PX-RICS,RICS,p200RhoGAP,p250GAP ) |
|---|---|
| Gene Full Name: | Rho GTPase activating protein 32 |
| Band: | 11q24.3 |
| Quick Links | Entrez ID:9743; OMIM: 608541; Uniprot ID:RHG32_HUMAN; ENSEMBL ID: ENSG00000134909; HGNC ID: 17399 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ARHGAP32|9743|nucleotide
ATGGAGACTGAAAGTGAGAGTAGCACTTTAGGGGATGACAGTGTCTTCTGGTTGGAGTCTGAAGTTATAATCCAGGTGACTGACTGTGAAGAGGAAGAAAGGGAA
GAGAAGTTCAGGAAGATGAAGTCCTCAGTACATTCTGAAGAAGATGATTTTGTTCCAGAGCTACATAGAAATGTACACCCTCGAGAGCGGCCTGATTGGGAAGAA
ACTCTTAGCGCAATGGCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTTAAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTGAAA
AAGTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGTGCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAGCTTTCACTTTCAGAAGAA
CAGAATGAAGTAATGAAAAATGGCTGTGAATCTAAAGAGCTGGTCTACCTCGTGCAGATTGCTTGTCAGGGAAAAAGTTGGATTGTTAAAAGAAGTTATGAAGAT
TTTCGGGTACTTGATAAACATCTTCATCTGTGTATTTATGACCGAAGATTTTCCCAGCTCTCAGAACTTCCCCGTTCTGACACCCTGAAGGACAGTCCAGAGTCG
GTCACTCAGATGCTTATGGCTTACCTGTCACGCCTTTCAGCTATCGCTGGCAACAAGATCAACTGTGGGCCCGCCCTTACCTGGATGGAGATTGATAATAAGGGA
AATCACCTTTTGGTTCATGAGGAGTCATCCATCAACACTCCTGCTGTCGGTGCTGCCCATGTTATCAAGAGGTACACTGCTCGGGCCCCTGACGAACTGACCTTA
GAGGTGGGAGACATTGTTTCTGTTATTGACATGCCCCCGAAAGTGTTAAGCACATGGTGGAGAGGCAAGCACGGATTCCAGGTGGGACTCTTCCCTGGACACTGT
GTTGAGTTAATTAACCAAAAAGTTCCCCAGTCAGTGACCAACTCAGTGCCAAAACCAGTGTCTAAAAAGCACGGCAAGCTCATTACGTTCTTACGAACATTCATG
AAGTCTCGTCCAACAAAACAGAAGCTGAAGCAGCGGGGAATCTTGAAAGAGAGGGTGTTTGGTTGTGACCTGGGGGAACACCTTCTAAATTCTGGTTTTGAAGTG
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ATGGAGACTGAAAGTGAGAGTAGCACTTTAGGGGATGACAGTGTCTTCTGGTTGGAGTCTGAAGTTATAATCCAGGTGACTGACTGTGAAGAGGAAGAAAGGGAA
GAGAAGTTCAGGAAGATGAAGTCCTCAGTACATTCTGAAGAAGATGATTTTGTTCCAGAGCTACATAGAAATGTACACCCTCGAGAGCGGCCTGATTGGGAAGAA
ACTCTTAGCGCAATGGCAAGAGGCGCAGATGTTCCAGAGATTCCTGGAGATCTTACTCTTAAGACGTGTGGCAGTACAGCCAGTATGAAGGTTAAGCATGTGAAA
AAGTTACCCTTCACTAAAGGTCACTTTCCGAAGATGGCTGAATGTGCGCATTTCCATTATGAGAATGTTGAGTTCGGCAGCATACAGCTTTCACTTTCAGAAGAA
CAGAATGAAGTAATGAAAAATGGCTGTGAATCTAAAGAGCTGGTCTACCTCGTGCAGATTGCTTGTCAGGGAAAAAGTTGGATTGTTAAAAGAAGTTATGAAGAT
TTTCGGGTACTTGATAAACATCTTCATCTGTGTATTTATGACCGAAGATTTTCCCAGCTCTCAGAACTTCCCCGTTCTGACACCCTGAAGGACAGTCCAGAGTCG
GTCACTCAGATGCTTATGGCTTACCTGTCACGCCTTTCAGCTATCGCTGGCAACAAGATCAACTGTGGGCCCGCCCTTACCTGGATGGAGATTGATAATAAGGGA
AATCACCTTTTGGTTCATGAGGAGTCATCCATCAACACTCCTGCTGTCGGTGCTGCCCATGTTATCAAGAGGTACACTGCTCGGGCCCCTGACGAACTGACCTTA
GAGGTGGGAGACATTGTTTCTGTTATTGACATGCCCCCGAAAGTGTTAAGCACATGGTGGAGAGGCAAGCACGGATTCCAGGTGGGACTCTTCCCTGGACACTGT
GTTGAGTTAATTAACCAAAAAGTTCCCCAGTCAGTGACCAACTCAGTGCCAAAACCAGTGTCTAAAAAGCACGGCAAGCTCATTACGTTCTTACGAACATTCATG
AAGTCTCGTCCAACAAAACAGAAGCTGAAGCAGCGGGGAATCTTGAAAGAGAGGGTGTTTGGTTGTGACCTGGGGGAACACCTTCTAAATTCTGGTTTTGAAGTG
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>ARHGAP32|9743|protein
METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTLKTCGSTASMKVKHVK
KLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQGKSWIVKRSYEDFRVLDKHLHLCIYDRRFSQLSELPRSDTLKDSPES
VTQMLMAYLSRLSAIAGNKINCGPALTWMEIDNKGNHLLVHEESSINTPAVGAAHVIKRYTARAPDELTLEVGDIVSVIDMPPKVLSTWWRGKHGFQVGLFPGHC
VELINQKVPQSVTNSVPKPVSKKHGKLITFLRTFMKSRPTKQKLKQRGILKERVFGCDLGEHLLNSGFEVPQVLQSCTAFIERYGIVDGIYRLSGVASNIQRLRH
EFDSEHVPDLTKEPYVQDIHSVGSLCKLYFRELPNPLLTYQLYEKFSDAVSAATDEERLIKIHDVIQQLPPPHYRTLEFLMRHLSLLADYCSITNMHAKNLAIVW
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METESESSTLGDDSVFWLESEVIIQVTDCEEEEREEKFRKMKSSVHSEEDDFVPELHRNVHPRERPDWEETLSAMARGADVPEIPGDLTLKTCGSTASMKVKHVK
KLPFTKGHFPKMAECAHFHYENVEFGSIQLSLSEEQNEVMKNGCESKELVYLVQIACQGKSWIVKRSYEDFRVLDKHLHLCIYDRRFSQLSELPRSDTLKDSPES
VTQMLMAYLSRLSAIAGNKINCGPALTWMEIDNKGNHLLVHEESSINTPAVGAAHVIKRYTARAPDELTLEVGDIVSVIDMPPKVLSTWWRGKHGFQVGLFPGHC
VELINQKVPQSVTNSVPKPVSKKHGKLITFLRTFMKSRPTKQKLKQRGILKERVFGCDLGEHLLNSGFEVPQVLQSCTAFIERYGIVDGIYRLSGVASNIQRLRH
EFDSEHVPDLTKEPYVQDIHSVGSLCKLYFRELPNPLLTYQLYEKFSDAVSAATDEERLIKIHDVIQQLPPPHYRTLEFLMRHLSLLADYCSITNMHAKNLAIVW
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 20 (7) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Sinajon P, 2015 | - | aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Wang T, 2016 | China | Illumina HiSeq 2000 |  | | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.