AutismKB 2.0

Evidence Details for KCTD19


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Basic Information Top
Gene Symbol:KCTD19 ( FLJ40162 )
Gene Full Name: potassium channel tetramerisation domain containing 19
Band: 16q22.1
Quick LinksEntrez ID:146212; OMIM: NA; Uniprot ID:KCD19_HUMAN; ENSEMBL ID: ENSG00000168676; HGNC ID: 24753
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCTD19|146212|nucleotide
ATGGAGGAGTCTGGCATGGCTCATGAATCAGCAGAGGACTTGTTTCATTTCAACGTAGGGGGCTGGCATTTCTCAGTTCCCAGAAGCAAACTCTCTCAGTTTCCA
GACTCCCTGCTGTGGAAAGAGGCTTCAGCCTTGACCTCTTCAGAAAGCCAGAGGCTATTTATCGACAGAGATGGTTCCACATTTAGGCACGTGCACTATTACCTC
TACACCTCCAAACTCTCCTTCTCCAGTTGTGCAGAACTGAACTTGCTGTATGAGCAAGCATTGGGTTTGCAGCTGATGCCTTTGCTGCAGACTCTAGATAACCTG
AAGGAAGGGAAACACCATCTACGCGTACGGCCTGCAGACCTACCTGTTGCTGAGAGAGCATCTCTGAACTACTGGCGTACATGGAAGTGTATTAGCAAACCCTCA
GAATTTCCAATTAAAAGCCCAGCCTTTACAGGCCTACATGATAAGGCACCTCTGGGGCTCATGGACACACCCCTGTTAGACACAGAAGAGGAGGTGCACTACTGC
TTCCTGCCCCTAGACCTGGTGGCCAAATATCCCAGCCTAGTGACTGAAGACAACCTGCTGTGGCTGGCTGAGACGGTGGCCCTCATCGAGTGCGAGTGCAGCGAG
TTCCGCTTCATTGTGAATTTTCTTCGCTCACAGAAGATTTTACTACCGGATAATTTCTCCAACATTGATGTATTAGAAGCAGAAGTGGAAATTCTGGAAATCCCT
GCACTCACTGAAGCCGTAAGGTGGTACCGGATGAACATGGGTGGCTGTTCCCCGACCACCTGTTCTCCCCTGAGCCCCGGGAAGGGGGCCCGCACAGCCAGCCTG
GAGTCCGTGAAACCGCTCTACACAATGGCCCTGGGTCTGCTGGTCAAGTACCCGGACTCTGCGCTGGGCCAGCTTCGCATCGAGAGCACGCTAGACGGAAGCCGA
CTGTACATCACAGGGAATGGCGTCCTCTTTCAGCACGTCAAGAACTGGCTGGGGACTTGCCGGCTGCCCCTGACAGAGACCATTTCCGAGGTATATGAGCTCTGT
GCCTTCCTAGACAAAAGGGACATCACCTACGAGCCAATCAAAGTTGCTTTGAAGACTCATCTGGAGCCAAGGACTTTGGCACCCATGGATGTGCTCAATGAGTGG
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>KCTD19|146212|protein
MEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTLDNL
KEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDTEEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSE
FRFIVNFLRSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSR
LYITGNGVLFQHVKNWLGTCRLPLTETISEVYELCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPEL
LSNPQRVYWITYGQTLLIHGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFS
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top