AutismKB 2.0

Evidence Details for KIF1C


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Basic Information Top
Gene Symbol:KIF1C ( KIAA0706,LTXS1 )
Gene Full Name: kinesin family member 1C
Band: 17p13.2
Quick LinksEntrez ID:10749; OMIM: 603060; Uniprot ID:KIF1C_HUMAN; ENSEMBL ID: ENSG00000129250; HGNC ID: 6317
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIF1C|10749|nucleotide
ATGGCTGGTGCCTCGGTGAAAGTGGCAGTGAGGGTTCGGCCCTTTAACGCCCGTGAGACCAGCCAGGATGCCAAGTGTGTGGTCAGCATGCAGGGCAACACCACC
TCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGACGGAGGACCCCCAGTTTGCATCTCAG
CAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTAT
ACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTAC
TCTGTGGAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGC
CCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGACTGTGGCTGCCACCAACATG
AATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTCAGTAAGATCAGT
TTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAA
GTGATCTCGGCCCTTGCAGATATGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGGGGG
AACTCACGCACAGCCATGATTGCAGCCCTGAGCCCTGCTGACATCAATTACGAGGAGACTCTCAGCACCCTCAGGTATGCTGACCGCACCAAGCAAATCCGCTGC
AATGCCATCATCAACGAGGACCCTAATGCCCGGCTGATTAGAGAGCTGCAGGAGGAAGTAGCCCGGCTGCGGGAACTGCTGATGGCTCAGGGACTGTCAGCCTCT
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>KIF1C|10749|protein
MAGASVKVAVRVRPFNARETSQDAKCVVSMQGNTTSIINPKQSKDAPKSFTFDYSYWSHTSTEDPQFASQQQVYRDIGEEMLLHAFEGYNVCIFAYGQTGAGKSY
TMMGRQEPGQQGIVPQLCEDLFSRVSENQSAQLSYSVEVSYMEIYCERVRDLLNPKSRGSLRVREHPILGPYVQDLSKLAVTSYADIADLMDCGNKARTVAATNM
NETSSRSHAVFTIVFTQRCHDQLTGLDSEKVSKISLVDLAGSERADSSGARGMRLKEGANINKSLTTLGKVISALADMQSKKRKSDFIPYRDSVLTWLLKENLGG
NSRTAMIAALSPADINYEETLSTLRYADRTKQIRCNAIINEDPNARLIRELQEEVARLRELLMAQGLSASALEGLKTEEGSVRGALPAVSSPPAPVSPSSPTTHN
GELEPSFSPNTESQIGPEEAMERLQETEKIIAELNETWEEKLRKTEALRMEREALLAEMGVAVREDGGTVGVFSPKKTPHLVNLNEDPLMSECLLYHIKDGVTRV
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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) 1 (1) 0 (0) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top