AutismKB 2.0

Evidence Details for GAPVD1


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Basic Information Top
Gene Symbol:GAPVD1 ( DKFZp434C212,GAPEX5,KIAA1521,MGC138847,MGC138848,RAP6 )
Gene Full Name: GTPase activating protein and VPS9 domains 1
Band: 9q33.3
Quick LinksEntrez ID:26130; OMIM: 611714; Uniprot ID:GAPD1_HUMAN; ENSEMBL ID: ENSG00000165219; HGNC ID: 23375
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAPVD1|26130|nucleotide
ATGGTGAAACTAGATATTCATACTCTGGCTCATCACCTCAAGCAGGAACGCTTATATGTAAACTCTGAGAAACAGCTCATTCAGAGGCTCAATGCAGATGTACTT
AAGACAGCTGAAAAGTTGTATCGTACAGCATGGATTGCGAAGCAACAGAGAATCAATTTGGATCGGCTTATCATAACCAGTGCTGAAGCTTCCCCTGCTGAATGT
TGCCAACATGCCAAAATTTTGGAAGATACACAATTTGTTGATGGGTATAAGCAATTGGGATTTCAGGAGACTGCTTATGGAGAATTCTTGAGTCGATTGAGGGAA
AATCCTCGTCTTATTGCCTCCTCTTTGGTTGCTGGAGAGAAACTTAATCAGGAGAACACACAAAGTGTTATTTACACAGTTTTTACCTCCCTGTATGGCAATTGC
ATCATGCAAGAAGATGAAAGCTACCTCCTTCAGGTTTTGCGATACTTGATTGAATTTGAACTTAAAGAAAGTGACAACCCTAGGCGACTTTTGAGGAGAGGAACT
TGTGCCTTCAGCATCTTATTTAAACTTTTTTCTGAAGGACTGTTTTCTGCCAAACTTTTCCTCACAGCCACTTTACATGAGCCAATTATGCAACTGCTTGTTGAA
GATGAAGATCACCTGGAAACAGATCCAAACAAGCTAATTGAGAGGTTCTCTCCATCTCAGCAGGAAAAACTCTTTGGAGAGAAGGGCTCAGATAGATTCAGGCAA
AAAGTTCAAGAAATGGTGGAGTCCAATGAAGCAAAGCTAGTGGCTTTGGTGAACAAATTTATTGGTTATCTCAAACAGAACACATATTGTTTTCCACATAGTTTA
AGGTGGATCGTGTCTCAGATGTACAAAACCCTCTCCTGTGTAGATAGGCTGGAAGTTGGGGAGGTCAGGGCAATGTGTACTGATCTCCTGTTGGCCTGCTTCATT
TGTCCTGCAGTTGTCAATCCAGAACAATATGGAATAATTTCCGATGCTCCTATTAATGAAGTAGCACGATTTAATCTGATGCAGGTAGGCCGCCTTTTGCAGCAG
TTAGCAATGACTGGCTCTGAAGAGGGAGATCCCCGAACAAAGAGCAGCCTTGGAAAGTTTGACAAAAGCTGTGTTGCCGCTTTCCTTGATGTTGTGATTGGGGGC
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>GAPVD1|26130|protein
MVKLDIHTLAHHLKQERLYVNSEKQLIQRLNADVLKTAEKLYRTAWIAKQQRINLDRLIITSAEASPAECCQHAKILEDTQFVDGYKQLGFQETAYGEFLSRLRE
NPRLIASSLVAGEKLNQENTQSVIYTVFTSLYGNCIMQEDESYLLQVLRYLIEFELKESDNPRRLLRRGTCAFSILFKLFSEGLFSAKLFLTATLHEPIMQLLVE
DEDHLETDPNKLIERFSPSQQEKLFGEKGSDRFRQKVQEMVESNEAKLVALVNKFIGYLKQNTYCFPHSLRWIVSQMYKTLSCVDRLEVGEVRAMCTDLLLACFI
CPAVVNPEQYGIISDAPINEVARFNLMQVGRLLQQLAMTGSEEGDPRTKSSLGKFDKSCVAAFLDVVIGGRAVETPPLSSVNLLEGLSRTVVYITYSQLITLVNF
MKSVMSGDQLREDRMALDNLLANLPPAKPGKSSSLEMTPYNTPQLSPATTPANKKNRLPIATRSRSRTNMLMDLHMDHEGSSQETIQEVQPEEVLVISLGTGPQL
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Evidence summary Top

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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) 0 (0) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top