AutismKB 2.0

Evidence Details for GIT1


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Basic Information Top
Gene Symbol:GIT1 ( - )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 1
Band: 17q11.2
Quick LinksEntrez ID:28964; OMIM: 608434; Uniprot ID:GIT1_HUMAN; ENSEMBL ID: ENSG00000108262; HGNC ID: 4272
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GIT1|28964|nucleotide
ATGTCCCGAAAGGGGCCGCGAGCGGAGGTGTGTGCGGACTGCAGCGCCCCGGACCCTGGCTGGGCATCCATCAGCAGGGGTGTGCTGGTGTGTGACGAGTGCTGC
AGCGTGCACCGGAGCCTGGGACGCCACATCTCCATTGTCAAGCACCTTCGCCACAGCGCCTGGCCTCCCACGCTGCTGCAGATGGTGCACACGCTTGCCAGCAAC
GGGGCCAACTCCATCTGGGAGCACTCCCTGCTGGACCCCGCACAAGTGCAGAGCGGCCGGCGTAAAGCCAACCCCCAAGACAAAGTCCACCCCATCAAGTCAGAG
TTCATCAGGGCCAAGTACCAGATGCTGGCATTTGTGCACAAGCTTCCCTGCCGGGACGATGATGGAGTCACCGCCAAAGACCTCAGCAAGCAACTACACTCGAGC
GTGCGGACAGGCAACCTGGAGACATGTCTGCGCCTGCTCTCCCTGGGTGCCCAGGCCAACTTCTTCCACCCAGAGAAGGGCACCACACCTCTGCACGTGGCTGCC
AAGGCAGGACAGACACTGCAGGCCGAGCTGCTTGTAGTGTATGGGGCTGACCCTGGCTCCCCTGATGTTAATGGCCGCACACCCATTGACTATGCCAGGCAGGCG
GGGCACCATGAGCTGGCGGAAAGGCTGGTTGAGTGCCAATATGAGCTCACTGACCGGCTGGCCTTCTACCTCTGTGGACGCAAGCCGGATCACAAGAATGGGCAT
TACATCATCCCACAGATGGCTGACAGATCTCGGCAAAAGTGCATGTCTCAGAGCCTTGACTTATCCGAATTGGCCAAAGCTGCTAAGAAGAAGCTGCAGGCGCTC
AGCAACCGGCTTTTTGAGGAACTCGCCATGGACGTGTATGACGAGGTGGATCGAAGAGAAAATGATGCAGTGTGGCTGGCTACCCAAAACCACAGCACTCTGGTG
ACAGAGCGCAGTGCCGTGCCCTTCCTGCCTGTTAACCCGGAATACTCAGCCACGCGGAATCAGGGGCGACAAAAGCTGGCCCGCTTTAATGCCCGAGAGTTTGCC
ACCTTGATCATCGACATTCTCAGTGAGGCCAAGCGGAGACAGCAGGGCAAGAGCCTGAGCAGCCCCACAGACAACCTCGAGCTGTCTCTGCGGAGCCAGAGTGAC
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>GIT1|28964|protein
MSRKGPRAEVCADCSAPDPGWASISRGVLVCDECCSVHRSLGRHISIVKHLRHSAWPPTLLQMVHTLASNGANSIWEHSLLDPAQVQSGRRKANPQDKVHPIKSE
FIRAKYQMLAFVHKLPCRDDDGVTAKDLSKQLHSSVRTGNLETCLRLLSLGAQANFFHPEKGTTPLHVAAKAGQTLQAELLVVYGADPGSPDVNGRTPIDYARQA
GHHELAERLVECQYELTDRLAFYLCGRKPDHKNGHYIIPQMADRSRQKCMSQSLDLSELAKAAKKKLQALSNRLFEELAMDVYDEVDRRENDAVWLATQNHSTLV
TERSAVPFLPVNPEYSATRNQGRQKLARFNAREFATLIIDILSEAKRRQQGKSLSSPTDNLELSLRSQSDLDDQHDYDSVASDEDTDQEPLRSTGATRSNRARSM
DSSDLSDGAVTLQEYLELKKALATSEAKVQQLMKVNSSLSDELRRLQREIHKLQAENLQLRQPPGPVPTPPLPSERAEHTPMAPGGSTHRRDRQAFSMYEPGSAL
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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) 2 (6) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top