Evidence Details for ARHGAP8
Basic Information Top
Gene Symbol: | ARHGAP8 ( BPGAP1,FLJ20185,PP610 ) |
---|---|
Gene Full Name: | Rho GTPase activating protein 8 |
Band: | 22q13.31 |
Quick Links | Entrez ID:23779; OMIM: 609405; Uniprot ID:RHG08_HUMAN; ENSEMBL ID: ENSG00000241484; HGNC ID: 677 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ARHGAP8|23779|nucleotide
ATGGCTGGCCAGGATCCTGCGCTGAGCACGAGTCACCCGTTCTACGACGTGGCCAGACATGGCATTCTGCAGGTGGCAGGGGATGACCGCTTTGGAAGACGTGTT
GTCACGTTCAGCTGCTGCCGGATGCCACCCTCCCACGAGCTGGACCACCAGCGGCTGCTGGAGTATTTGAAGTACACACTGGACCAATACGTTGAGAACGATTAT
ACCATCGTCTATTTCCACTACGGGCTGAACAGCCGGAACAAGCCTTCCCTGGGCTGGCTCCAGAGCGCATACAAGGAGTTCGATAGGAAAGACGGGGATCTCACT
ATGTGGCCCAGGCTGGTCTCGAACTCCAAGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTACAAGAAGAACTTGAAGGCCCTCTAC
GTGGTGCACCCCACCAGCTTCATCAAGGTCCTGTGGAACATCTTGAAGCCCCTCATCAGTCACAAGTTTGGGAAGAAAGTCATCTATTTCAACTACCTGAGTGAG
CTCCACGAACACCTTAAATACGACCAGCTGGTCATCCCTCCCGAAGTTTTGCGGTACGATGAGAAGCTCCAGAGCCTGCACGAGGGCCGGACGCCGCCTCCCACC
AAGACACCACCGCCGCGGCCCCCGCTGCCCACACAGCAGTTTGGCGTCAGTCTGCAATACCTCAAAGACAAAAATCAAGGCGAACTCATCCCCCCTGTGCTGAGG
TTCACAGTGACGTACCTGAGAGAGAAAGGCCTGCGCACCGAGGGCCTGTTCCGGAGATCCGCCAGCGTGCAGACCGTCCGCGAGATCCAGAGGCTCTACAACCAA
GGGAAGCCCGTGAACTTTGACGACTACGGGGACATTCACATCCCTGCCGTGATCCTGAAGACCTTCCTGCGAGAGCTGCCCCAGCCGCTTCTGACCTTCCAGGCC
TACGAGCAGATTCTCGGGATCACCTGTGTGGAGAGCAGCCTGCGTGTCACTGGCTGCCGCCAGATCTTACGGAGCCTCCCAGAGCACAACTACGTCGTCCTCCGC
TACCTCATGGGCTTCCTGCATGCGGTGTCCCGGGAGAGCATCTTCAACAAAATGAACAGCTCTAACCTGGCCTGTGTCTTCGGGCTGAATTTGATCTGGCCATCC
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ATGGCTGGCCAGGATCCTGCGCTGAGCACGAGTCACCCGTTCTACGACGTGGCCAGACATGGCATTCTGCAGGTGGCAGGGGATGACCGCTTTGGAAGACGTGTT
GTCACGTTCAGCTGCTGCCGGATGCCACCCTCCCACGAGCTGGACCACCAGCGGCTGCTGGAGTATTTGAAGTACACACTGGACCAATACGTTGAGAACGATTAT
ACCATCGTCTATTTCCACTACGGGCTGAACAGCCGGAACAAGCCTTCCCTGGGCTGGCTCCAGAGCGCATACAAGGAGTTCGATAGGAAAGACGGGGATCTCACT
ATGTGGCCCAGGCTGGTCTCGAACTCCAAGCTCAAGCGATCCTCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTACAAGAAGAACTTGAAGGCCCTCTAC
GTGGTGCACCCCACCAGCTTCATCAAGGTCCTGTGGAACATCTTGAAGCCCCTCATCAGTCACAAGTTTGGGAAGAAAGTCATCTATTTCAACTACCTGAGTGAG
CTCCACGAACACCTTAAATACGACCAGCTGGTCATCCCTCCCGAAGTTTTGCGGTACGATGAGAAGCTCCAGAGCCTGCACGAGGGCCGGACGCCGCCTCCCACC
AAGACACCACCGCCGCGGCCCCCGCTGCCCACACAGCAGTTTGGCGTCAGTCTGCAATACCTCAAAGACAAAAATCAAGGCGAACTCATCCCCCCTGTGCTGAGG
TTCACAGTGACGTACCTGAGAGAGAAAGGCCTGCGCACCGAGGGCCTGTTCCGGAGATCCGCCAGCGTGCAGACCGTCCGCGAGATCCAGAGGCTCTACAACCAA
GGGAAGCCCGTGAACTTTGACGACTACGGGGACATTCACATCCCTGCCGTGATCCTGAAGACCTTCCTGCGAGAGCTGCCCCAGCCGCTTCTGACCTTCCAGGCC
TACGAGCAGATTCTCGGGATCACCTGTGTGGAGAGCAGCCTGCGTGTCACTGGCTGCCGCCAGATCTTACGGAGCCTCCCAGAGCACAACTACGTCGTCCTCCGC
TACCTCATGGGCTTCCTGCATGCGGTGTCCCGGGAGAGCATCTTCAACAAAATGAACAGCTCTAACCTGGCCTGTGTCTTCGGGCTGAATTTGATCTGGCCATCC
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>ARHGAP8|23779|protein
MAGQDPALSTSHPFYDVARHGILQVAGDDRFGRRVVTFSCCRMPPSHELDHQRLLEYLKYTLDQYVENDYTIVYFHYGLNSRNKPSLGWLQSAYKEFDRKDGDLT
MWPRLVSNSKLKRSSHLSLPKYWDYRYKKNLKALYVVHPTSFIKVLWNILKPLISHKFGKKVIYFNYLSELHEHLKYDQLVIPPEVLRYDEKLQSLHEGRTPPPT
KTPPPRPPLPTQQFGVSLQYLKDKNQGELIPPVLRFTVTYLREKGLRTEGLFRRSASVQTVREIQRLYNQGKPVNFDDYGDIHIPAVILKTFLRELPQPLLTFQA
YEQILGITCVESSLRVTGCRQILRSLPEHNYVVLRYLMGFLHAVSRESIFNKMNSSNLACVFGLNLIWPSQGVSSLSALVPLNMFTELLIEYYEKIFSTPEAPGE
HGLAPWEQGSRAAPLQEAVPRTQATGLTKPTLPPSPLMAARRRL
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MAGQDPALSTSHPFYDVARHGILQVAGDDRFGRRVVTFSCCRMPPSHELDHQRLLEYLKYTLDQYVENDYTIVYFHYGLNSRNKPSLGWLQSAYKEFDRKDGDLT
MWPRLVSNSKLKRSSHLSLPKYWDYRYKKNLKALYVVHPTSFIKVLWNILKPLISHKFGKKVIYFNYLSELHEHLKYDQLVIPPEVLRYDEKLQSLHEGRTPPPT
KTPPPRPPLPTQQFGVSLQYLKDKNQGELIPPVLRFTVTYLREKGLRTEGLFRRSASVQTVREIQRLYNQGKPVNFDDYGDIHIPAVILKTFLRELPQPLLTFQA
YEQILGITCVESSLRVTGCRQILRSLPEHNYVVLRYLMGFLHAVSRESIFNKMNSSNLACVFGLNLIWPSQGVSSLSALVPLNMFTELLIEYYEKIFSTPEAPGE
HGLAPWEQGSRAAPLQEAVPRTQATGLTKPTLPPSPLMAARRRL
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Evidence summary Top
Click 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) | 2 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Prasad, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Goizet, 2000 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Bucan, 2009 | USA | SNP microarray | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 | ||
Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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