AutismKB 2.0

Evidence Details for KCTD9


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Basic Information Top
Gene Symbol:KCTD9 ( FLJ20038 )
Gene Full Name: potassium channel tetramerisation domain containing 9
Band: 8p21.2
Quick LinksEntrez ID:54793; OMIM: NA; Uniprot ID:KCTD9_HUMAN; ENSEMBL ID: ENSG00000104756; HGNC ID: 22401
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCTD9|54793|nucleotide
ATGAGGCGGGTGACCCTGTTCCTGAACGGCAGCCCCAAGAACGGAAAGGTGGTTGCTGTATATGGAACTTTATCTGATTTGCTTTCTGTGGCCAGCAGTAAACTC
GGCATAAAAGCCACCAGTGTGTATAATGGGAAAGGTGGACTGATTGATGATATTGCTTTGATCAGGGATGATGATGTTTTGTTTGTTTGTGAAGGAGAGCCATTT
ATTGATCCTCAGACAGATTCTAAGCCTCCTGAGGGATTGTTAGGATTCCACACAGACTGGCTGACATTAAATGTTGGAGGGCGGTACTTTACAACTACACGGAGC
ACTTTAGTGAATAAAGAACCTGACAGTATGCTGGCCCACATGTTTAAGGACAAAGGTGTCTGGGGAAATAAGCAAGATCATAGAGGAGCTTTCTTAATTGACCGA
AGTCCTGAGTACTTCGAACCCATTTTGAACTACTTGCGTCATGGACAGCTCATTGTAAATGATGGCATTAATTTATTGGGTGTGTTAGAAGAAGCAAGATTTTTT
GGTATTGACTCATTGATTGAACACCTAGAAGTGGCAATAAAGAATTCTCAACCACCGGAGGATCATTCACCAATATCCCGAAAGGAATTTGTCCGATTTTTGCTA
GCAACTCCAACCAAGTCAGAACTGCGATGCCAGGGTTTGAACTTCAGTGGTGCTGATCTTTCTCGTTTGGACCTTCGATACATTAACTTCAAAATGGCCAATTTA
AGCCGCTGTAATCTTGCACATGCAAATCTTTGCTGTGCAAATCTTGAACGAGCTGATCTCTCTGGATCAGTGCTTGACTGTGCGAATCTCCAGGGAGTCAAGATG
CTCTGTTCTAATGCAGAAGGAGCATCCCTGAAACTGTGTAATTTTGAGGATCCTTCTGGTCTTAAAGCCAATTTAGAAGGTGCTAATCTGAAAGGTGTGGATATG
GAAGGAAGTCAGATGACAGGAATTAACCTGAGAGTGGCTACCTTAAAAAATGCAAAGTTGAAGAACTGTAACCTCAGAGGAGCAACTCTGGCAGGAACTGATTTA
GAGAATTGTGATCTGTCTGGGTGTGATCTTCAAGAAGCCAACCTGAGAGGGTCCAACGTGAAGGGAGCTATATTTGAAGAGATGCTGACACCACTACACATGTCA
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>KCTD9|54793|protein
MRRVTLFLNGSPKNGKVVAVYGTLSDLLSVASSKLGIKATSVYNGKGGLIDDIALIRDDDVLFVCEGEPFIDPQTDSKPPEGLLGFHTDWLTLNVGGRYFTTTRS
TLVNKEPDSMLAHMFKDKGVWGNKQDHRGAFLIDRSPEYFEPILNYLRHGQLIVNDGINLLGVLEEARFFGIDSLIEHLEVAIKNSQPPEDHSPISRKEFVRFLL
ATPTKSELRCQGLNFSGADLSRLDLRYINFKMANLSRCNLAHANLCCANLERADLSGSVLDCANLQGVKMLCSNAEGASLKLCNFEDPSGLKANLEGANLKGVDM
EGSQMTGINLRVATLKNAKLKNCNLRGATLAGTDLENCDLSGCDLQEANLRGSNVKGAIFEEMLTPLHMSQSVR

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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 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top