AutismKB 2.0

Evidence Details for GAB1


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Basic Information Top
Gene Symbol:GAB1 ( - )
Gene Full Name: GRB2-associated binding protein 1
Band: 4q31.21
Quick LinksEntrez ID:2549; OMIM: 604439; Uniprot ID:GAB1_HUMAN; ENSEMBL ID: ENSG00000109458; HGNC ID: 4066
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAB1|2549|nucleotide
ATGAGCGGTGGTGAAGTGGTCTGCTCCGGATGGCTCCGCAAGTCCCCCCCGGAGAAAAAGTTGAAGCGTTATGCATGGAAGAGGAGATGGTTCGTGTTACGCAGT
GGCCGTTTAACTGGAGATCCAGATGTTTTGGAATATTACAAAAATGATCATGCCAAGAAGCCTATTCGTATTATTGATTTAAATTTATGTCAACAAGTAGATGCT
GGATTGACATTTAACAAAAAAGAGTTTGAAAACAGCTACATTTTTGATATCAACACTATTGACCGGATTTTCTACTTGGTAGCAGACAGCGAGGAGGAGATGAAT
AAGTGGGTTCGTTGTATTTGTGACATCTGTGGGTTTAATCCAACAGAAGAAGATCCTGTGAAGCCACCTGGCAGCTCTTTACAAGCACCAGCTGATTTACCTTTA
GCTATAAATACAGCACCACCATCCACCCAGGCAGATTCATCCTCTGCTACTCTACCTCCTCCATATCAGCTAATCAATGTTCCACCACACCTGGAAACTCTTGGC
ATTCAGGAGGATCCTCAAGACTACCTGTTGCTCATCAACTGTCAAAGCAAGAAGCCCGAACCCACCAGAACGCATGCTGATTCTGCAAAATCCACCTCTTCTGAA
ACAGACTGCAATGATAACGTCCCTTCTCATAAAAATCCTGCTTCCTCCCAGAGCAAACATGGAATGAATGGCTTTTTTCAGCAGCAAATGATATACGACTCTCCA
CCTTCACGTGCCCCATCTGCTTCAGTTGACTCCAGCCTTTATAACCTGCCCAGGAGTTATTCCCATGATGTTTTACCAAAGGTGTCTCCATCAAGTACTGAAGCA
GATGGAGAACTCTATGTTTTTAATACCCCATCTGGGACATCGAGTGTAGAGACTCAAATGAGGCATGTATCTATTAGTTATGACATTCCTCCAACACCTGGTAAT
ACTTATCAGATTCCACGAACATTTCCAGAAGGAACCTTGGGACAGACATCAAAGCTAGACACTATTCCAGATATTCCTCCACCTCGGCCACCGAAACCACATCCA
GCTCATGACCGATCTCCTGTGGAAACGTGTAGTATCCCACGCACCGCCTCAGACACTGACAGTAGTTACTGTATCCCTACAGCAGGGATGTCGCCTTCACGTAGT
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>GAB1|2549|protein
MSGGEVVCSGWLRKSPPEKKLKRYAWKRRWFVLRSGRLTGDPDVLEYYKNDHAKKPIRIIDLNLCQQVDAGLTFNKKEFENSYIFDINTIDRIFYLVADSEEEMN
KWVRCICDICGFNPTEEDPVKPPGSSLQAPADLPLAINTAPPSTQADSSSATLPPPYQLINVPPHLETLGIQEDPQDYLLLINCQSKKPEPTRTHADSAKSTSSE
TDCNDNVPSHKNPASSQSKHGMNGFFQQQMIYDSPPSRAPSASVDSSLYNLPRSYSHDVLPKVSPSSTEADGELYVFNTPSGTSSVETQMRHVSISYDIPPTPGN
TYQIPRTFPEGTLGQTSKLDTIPDIPPPRPPKPHPAHDRSPVETCSIPRTASDTDSSYCIPTAGMSPSRSNTISTVDLNKLRKDASSQDCYDIPRAFPSDRSSSL
EGFHNHFKVKNVLTVGSVSSEELDENYVPMNPNSPPRQHSSSFTEPIQEANYVPMTPGTFDFSSFGMQVPPPAHMGFRSSPKTPPRRPVPVADCEPPPVDRNLKP
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top