AutismKB 2.0

Evidence Details for RAB3GAP2


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Basic Information Top
Gene Symbol:RAB3GAP2 ( DKFZp434D245,FLJ14579,KIAA0839,RAB3-GAP150,RAB3GAP150,p150 )
Gene Full Name: RAB3 GTPase activating protein subunit 2 (non-catalytic)
Band: 1q41
Quick LinksEntrez ID:25782; OMIM: 609275; Uniprot ID:RBGPR_HUMAN; ENSEMBL ID: ENSG00000118873; HGNC ID: 17168
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAB3GAP2|25782|nucleotide
ATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTCCTCTTTCCTCACCTGCGGGAGGAGATCCTCAGCGGCGCCTTGCGG
AGGGACCCCAGTAAATCAACAGACTGGGAAGATGATGGTTGGGGAGCATGGGAAGAAAATGAACCACAAGAACCTGAAGAAGAAGGAAATACTTGCAAAACACAA
AAAACTTCCTGGCTCCAAGATTGTGTTTTATCCTTATCTCCAACCAATGATCTTATGGTGATAGCTCGAGAGCAAAAAGCTGTATTTCTAGTGCCAAAATGGAAA
TATAGTGATAAAGGAAAGGAAGAAATGCAATTTGCTGTTGGCTGGAGTGGTTCCTTAAATGTCGAAGAAGGGGAATGTGTAACCAGTGCTCTATGTATCCCACTA
GCAAGCCAAAAGAGGAGTTCCACTGGGCGTCCTGACTGGACCTGCATTGTGGTGGGTTTTACTTCAGGTTATGTACGCTTCTACACTGAGAATGGTGTGCTCTTG
CTTGCACAGCTTTTGAATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGCGTGACTGAGCAGAATGAAGAGTTGAGTATC
TTATATCCAGCTGCCATTGTGACTATTGATGGATTTAGCCTTTTTCAATCTCTTCGTGCTTGTCGAAATCAGGTAGCAAAAGCTGCAGCATCAGGCAATGAGAAC
ATACAACCACCACCATTAGCTTATAAGAAATGGGGTCTACAAGATATTGACACTATTATTGATCATGCTAGTGTTGGTATTATGACTCTGTCCCCCTTTGATCAA
ATGAAGACTGCCTCCAATATAGGTGGATTTAATGCAGCAATTAAAAATAGTCCACCTGCCATGTCTCAGTATATCACTGTAGGGTCCAATCCATTTACTGGCTTC
TTCTATGCTTTAGAGGGAAGCACACAACCATTATTATCCCATGTTGCACTAGCAGTTGCAAGTAAACTCACTTCTGCTTTATTTAATGCTGCCAGTGGTTGGCTT
GGTTGGAAAAGTAAGCACGAAGAAGAAGCTGTCCAAAAGCAAAAGCCGAAGGTTGAGCCAGCTACCCCATTAGCTGTAAGATTTGGACTTCCAGATTCTAGACGC
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>RAB3GAP2|25782|protein
MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWK
YSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLLNEDPVLQLKCRTYEIPRHPGVTEQNEELSI
LYPAAIVTIDGFSLFQSLRACRNQVAKAAASGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQMKTASNIGGFNAAIKNSPPAMSQYITVGSNPFTGF
FYALEGSTQPLLSHVALAVASKLTSALFNAASGWLGWKSKHEEEAVQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIR
MWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWSTQQGPRVGAFNVGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLV
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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) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top