AutismKB 2.0

Evidence Details for CLCN3


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Basic Information Top
Gene Symbol:CLCN3 ( CLC3,ClC-3 )
Gene Full Name: chloride channel 3
Band: 4q33
Quick LinksEntrez ID:1182; OMIM: 600580; Uniprot ID:CLCN3_HUMAN; ENSEMBL ID: ENSG00000109572; HGNC ID: 2021
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLCN3|1182|nucleotide
ATGGAGTCTGAGCAGCTGTTCCATAGAGGCTACTATAGAAACAGCTACAACAGTATAACAAGTGCAAGTAGTGATGAGGAACTTTTAGATGGAGCAGGTGTTATT
ATGGACTTTCAAACATCTGAAGATGACAATTTATTAGATGGTGACACTGCAGTTGGAACTCATTATACAATGACAAATGGAGGCAGCATTAACAGTTCTACACAT
TTACTGGATCTTTTGGATGAACCAATTCCAGGTGTTGGTACATATGATGATTTCCATACTATTGATTGGGTGCGAGAAAAATGTAAAGACAGAGAAAGGCATAGA
CGGATCAACAGCAAAAAGAAAGAATCAGCATGGGAAATGACAAAAAGTTTGTATGATGCGTGGTCAGGATGGCTAGTAGTAACACTAACAGGATTGGCATCAGGG
GCACTGGCCGGATTAATAGACATTGCTGCCGATTGGATGACTGACCTAAAGGAGGGCATTTGCCTTAGTGCGTTGTGGTACAACCACGAACAGTGCTGTTGGGGA
TCTAATGAAACAACATTTGAAGAGAGGGATAAATGTCCACAGTGGAAAACATGGGCAGAATTAATCATAGGTCAAGCAGAGGGTCCTGGTTCTTATATCATGAAC
TACATAATGTACATCTTCTGGGCCTTGAGTTTTGCCTTTCTTGCAGTTTCCCTGGTAAAGGTATTTGCTCCATATGCCTGTGGCTCTGGAATTCCAGAGATTAAA
ACTATTTTAAGTGGATTCATCATCAGAGGTTACTTGGGAAAATGGACTTTAATGATTAAAACCATCACATTAGTCCTGGCTGTGGCATCAGGTTTGAGTTTAGGA
AAAGAAGGTCCCCTGGTACATGTTGCCTGTTGCTGCGGAAATATCTTTTCCTACCTCTTTCCAAAGTATAGCACAAACGAAGCTAAAAAAAGGGAGGTGCTATCA
GCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTTAGCTATTATTTTCCTCTCAAAACTTTATGG
AGATCATTTTTTGCTGCTTTAGTGGCTGCATTTGTTTTGAGGTCCATCAATCCATTTGGTAACAGCCGTCTGGTCCTTTTTTATGTGGAGTATCATACACCATGG
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>CLCN3|1182|protein
MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMTNGGSINSSTHLLDLLDEPIPGVGTYDDFHTIDWVREKCKDRERHR
RINSKKKESAWEMTKSLYDAWSGWLVVTLTGLASGALAGLIDIAADWMTDLKEGICLSALWYNHEQCCWGSNETTFEERDKCPQWKTWAELIIGQAEGPGSYIMN
YIMYIFWALSFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLFPKYSTNEAKKREVLS
AASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFVLRSINPFGNSRLVLFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKS
TKFGKYPVLEVIIVAAITAVIAFPNPYTRLNTSELIKELFTDCGPLESSSLCDYRNDMNASKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSG
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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) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (3)
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
Ramanathan, 2004 - STS mappingautism - - - - 1 - 1
Linkage Studies Top