AutismKB 2.0

Evidence Details for CLCNKA


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Basic Information Top
Gene Symbol:CLCNKA ( CLCK1,ClC-K1,MGC61490,hClC-Ka )
Gene Full Name: chloride channel Ka
Band: 1p36.13
Quick LinksEntrez ID:1187; OMIM: 602024; Uniprot ID:CLCKA_HUMAN; ENSEMBL ID: ENSG00000186510; HGNC ID: 2026
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLCNKA|1187|nucleotide
ATGGAGGAGTTGGTGGGGCTGCGTGAGGGCTTCTCAGGGGACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCACATCCGCCGAGCCATCCAAGGTGGC
CTGGAGTGGCTAAAGCAGAAGGTGTTCCGCCTGGGAGAAGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCC
ATCGGGTGTGTGGTCCGAGCACACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCT
TTCTCCTCAGGCTTCTCCCAGAGCATCACGCCCTCCTCTGGAGGTTCTGGAATCCCGGAGCTGAAGACCATGTTGGCGGGTGTGATCTTGGAGGACTACCTGGAT
ATCAAGAACTTTGGGGCCAAGGTGGTGGGCCTCTCCTGCACCCTGGCCACCGGCAGCACCCTGTTCCTGGGCAAAGTGGGCCCTTTCGTGCACCTGTCTGTAATG
ATCGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCC
ACAGTCTTTGCAGCTCCCTTCAGCGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCCGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGC
GGGGCCTTCATATTCCGGCTCCTGGCAGTCTTCAACAGCGAGCAGGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCT
GAGATCTTCTTTTTTGTGGCGCTGGGTGGCATCTGCGGCGTCCTGAGCTGTGCTTACCTCTTCTGTCAGCGAACCTTCCTCAGCTTCATCAAGACCAATCGGTAC
AGCTCCAAACTGCTGGCTACTAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGCTTCTCGCCTCCATCACCTACCCGCCTGGTGTGGGCCACTTCCTAGCTTCT
CGGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAG
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>CLCNKA|1187|protein
MEELVGLREGFSGDPVTLQELWGPCPHIRRAIQGGLEWLKQKVFRLGEDWYFLMTLGVLMALVSYAMNFAIGCVVRAHQWLYREIGDSHLLRYLSWTVYPVALVS
FSSGFSQSITPSSGGSGIPELKTMLAGVILEDYLDIKNFGAKVVGLSCTLATGSTLFLGKVGPFVHLSVMIAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVA
TVFAAPFSGVLFSIEVMSSHFSVRDYWRGFFAATCGAFIFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGICGVLSCAYLFCQRTFLSFIKTNRY
SSKLLATSKPVYSALATLLLASITYPPGVGHFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP
MPAGYFMPIFILGAAIGRLLGEALAVAFPEGIVTGGVTNPIMPGGYALAGAAAFSGAVTHTISTALLAFELTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTII
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top