AutismKB 2.0

Evidence Details for GAP43


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Basic Information Top
Gene Symbol:GAP43 ( B-50,PP46 )
Gene Full Name: growth associated protein 43
Band: 3q13.31
Quick LinksEntrez ID:2596; OMIM: 162060; Uniprot ID:NEUM_HUMAN; ENSEMBL ID: ENSG00000172020; HGNC ID: 4140
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAP43|2596|nucleotide
ATGACAAAGTCCTGCTCTGAATTATGCCACCCCGCACTCCACTTTTTACCTTGCCTGGGAGGCTTGAGGAAAAATCTTCAGAGAGCAGTTCGACCTAGTCCTTAT
TCACTTGGCTTCTTGACTTTCTGGATTTCAAGGGTTGAAAAAAATGATGACGACCAAAAGATTGAACAAGATGGTATCAAACCAGAAGATAAAGCTCATAAGGCC
GCAACCAAAATTCAGGCTAGCTTCCGTGGACACATAACAAGGAAAAAGCTCAAAGGAGAGAAGAAGGATGATGTCCAAGCTGCTGAGGCTGAAGCTAATAAGAAG
GATGAAGCCCCTGTTGCCGATGGGGTGGAGAAGAAGGGAGAAGGCACCACTACTGCCGAAGCAGCCCCAGCCACTGGCTCCAAGCCTGATGAGCCCGGCAAAGCA
GGAGAAACTCCTTCCGAGGAGAAGAAGGGGGAGGGTGATGCTGCCACAGAGCAGGCAGCCCCCCAGGCTCCTGCATCCTCAGAGGAGAAGGCCGGCTCAGCTGAG
ACAGAAAGTGCCACTAAAGCTTCCACTGATAACTCGCCGTCCTCCAAGGCTGAAGATGCCCCAGCCAAGGAGGAGCCTAAACAAGCCGATGTGCCTGCTGCTGTC
ACTGCTGCTGCTGCCACCACCCCTGCCGCAGAGGATGCTGCTGCCAAGGCAACAGCCCAGCCTCCAACGGAGACTGGGGAGAGCAGCCAAGCTGAAGAGAACATA
GAAGCTGTAGATGAAACCAAACCTAAGGAAAGTGCCCGGCAGGACGAGGGTAAAGAAGAGGAACCTGAGGCTGACCAAGAACATGCCTGA



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>GAP43|2596|protein
MTKSCSELCHPALHFLPCLGGLRKNLQRAVRPSPYSLGFLTFWISRVEKNDDDQKIEQDGIKPEDKAHKAATKIQASFRGHITRKKLKGEKKDDVQAAEAEANKK
DEAPVADGVEKKGEGTTTAEAAPATGSKPDEPGKAGETPSEEKKGEGDAATEQAAPQAPASSEEKAGSAETESATKASTDNSPSSKAEDAPAKEEPKQADVPAAV
TAAAATTPAAEDAAAKATAQPPTETGESSQAEENIEAVDETKPKESARQDEGKEEEPEADQEHA


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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
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
Shuvarikov A, 2013 - aCGH;FISH--autism - - - - 9 - 9
Fan Y, 2016 China CMA--autism - - - - 3 - 3
Linkage Studies Top