AutismKB 2.0

Evidence Details for KIF5A


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Basic Information Top
Gene Symbol:KIF5A ( D12S1889,MY050,NKHC,SPG10 )
Gene Full Name: kinesin family member 5A
Band: 12q13.3
Quick LinksEntrez ID:3798; OMIM: 602821; Uniprot ID:KIF5A_HUMAN; ENSEMBL ID: ENSG00000155980; HGNC ID: 6323
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIF5A|3798|nucleotide
ATGGCGGAGACCAACAACGAATGTAGCATCAAGGTGCTCTGCCGATTCCGGCCCCTGAACCAGGCTGAGATTCTGCGGGGAGACAAGTTCATCCCCATTTTCCAA
GGGGACGACAGCGTCGTTATTGGGGGGAAGCCATATGTTTTTGACCGTGTATTCCCCCCAAACACGACTCAAGAGCAAGTTTATCATGCATGTGCCATGCAGATT
GTCAAAGATGTCCTTGCTGGCTACAATGGCACCATTTTTGCTTATGGACAGACATCCTCAGGGAAAACACATACCATGGAGGGAAAGCTGCACGACCCTCAGCTG
ATGGGAATCATTCCTCGAATTGCCCGAGACATCTTCAACCACATCTACTCCATGGATGAGAACCTTGAGTTCCACATCAAGGTTTCTTACTTTGAAATTTACCTG
GACAAAATTCGTGACCTTCTGGATGTGACCAAGACAAATCTGTCCGTGCACGAGGACAAGAACCGGGTGCCATTTGTCAAGGGTTGTACTGAACGCTTTGTGTCC
AGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAACATGAATGAACACAGCTCTCGGAGCCACAGCATCTTCCTC
ATCAACATCAAGCAGGAGAACATGGAAACGGAGCAGAAGCTCAGTGGGAAGCTGTATCTGGTGGACCTGGCAGGGAGTGAGAAGGTCAGCAAGACTGGAGCAGAG
GGAGCCGTGCTGGACGAGGCAAAGAATATCAACAAGTCACTGTCAGCTCTGGGCAATGTGATCTCCGCACTGGCTGAGGGCACTAAAAGCTATGTTCCATATCGT
GACAGCAAAATGACAAGGATTCTCCAGGACTCTCTCGGGGGAAACTGCCGGACGACTATGTTCATCTGTTGCTCACCATCCAGTTATAATGATGCAGAGACCAAG
TCCACCCTGATGTTTGGGCAGCGGGCAAAGACCATTAAGAACACTGCCTCAGTAAATTTGGAGTTGACTGCTGAGCAGTGGAAGAAGAAATATGAGAAGGAGAAG
GAGAAGACAAAGGCCCAGAAGGAGACGATTGCGAAGCTGGAGGCTGAGCTGAGCCGGTGGCGCAATGGAGAGAATGTGCCTGAGACAGAGCGCCTGGCTGGGGAG
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>KIF5A|3798|protein
MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQL
MGIIPRIARDIFNHIYSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFL
INIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETK
STLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEE
IRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVAT
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 11 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top