AutismKB 2.0

Evidence Details for KIF1A


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Basic Information Top
Gene Symbol:KIF1A ( ATSV,C2orf20,DKFZp686I2094,FLJ30229,HUNC-104,MGC133285,MGC133286,UNC104 )
Gene Full Name: kinesin family member 1A
Band: 2q37.3
Quick LinksEntrez ID:547; OMIM: 601255; Uniprot ID:KIF1A_HUMAN; ENSEMBL ID: ENSG00000130294; HGNC ID: 888
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIF1A|547|nucleotide
ATGGCCGGGGCTTCGGTGAAGGTGGCGGTGCGGGTCCGCCCCTTCAATTCCCGGGAAATGAGCCGTGACTCCAAGTGCATCATTCAGATGTCTGGAAGCACCACC
ACCATTGTTAACCCCAAACAGCCCAAGGAGACGCCCAAAAGCTTCAGCTTTGACTACTCCTACTGGTCGCACACCTCACCTGAGGACATCAACTACGCGTCGCAG
AAGCAGGTGTACCGGGACATCGGCGAGGAGATGCTGCAGCATGCCTTTGAGGGATACAACGTGTGCATCTTCGCCTATGGGCAGACGGGTGCCGGCAAGTCCTAC
ACCATGATGGGCAAGCAGGAGAAGGACCAGCAGGGCATCATCCCACAGCTCTGCGAGGACCTCTTCTCTCGGATCAACGACACGACCAACGACAACATGTCCTAC
TCCGTGGAGGTCAGCTACATGGAGATTTACTGTGAGCGCGTCCGTGACCTCCTGAACCCCAAGAACAAGGGCAACCTTCGCGTGAGGGAGCACCCACTGCTGGGG
CCCTACGTGGAGGACCTCTCCAAGCTGGCTGTCACCTCCTACAATGACATCCAGGACCTCATGGACTCAGGGAACAAGGCCAGGACCGTGGCGGCCACCAACATG
AATGAGACCAGCAGTCGCTCCCACGCCGTCTTCAACATCATCTTCACCCAGAAGCGCCATGACGCAGAGACCAATATCACCACGGAGAAGGTGAGCAAAATCAGC
CTGGTGGACCTGGCTGGGAGCGAGCGGGCTGACTCCACGGGAGCCAAGGGCACGCGCCTCAAGGAGGGGGCCAACATCAACAAGTCGCTGACCACCCTGGGCAAG
GTCATCTCCGCCCTGGCTGAAATGGACTCCGGACCCAACAAGAACAAGAAAAAGAAGAAGACAGATTTCATTCCGTACCGAGATTCCGTGTTGACCTGGCTCCTC
CGGGAAAACCTGGGCGGTAACTCAAGGACAGCTATGGTGGCAGCCTTGAGTCCTGCAGACATCAACTACGATGAGACCCTTAGCACGCTGAGGTATGCTGACCGG
GCCAAGCAGATCCGCTGCAATGCTGTCATCAATGAGGACCCCAACAACAAGCTGATCCGCGAGCTGAAGGATGAGGTGACCCGGCTGCGGGACCTTCTGTACGCC
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>KIF1A|547|protein
MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGYNVCIFAYGQTGAGKSY
TMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSYSVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGNKARTVAATNM
NETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLL
RENLGGNSRTAMVAALSPADINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSL
HERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGREDGER
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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 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 10 (5)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top