AutismKB 2.0

Evidence Details for CLCN2


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Basic Information Top
Gene Symbol:CLCN2 ( CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8 )
Gene Full Name: chloride channel 2
Band: 3q27.1
Quick LinksEntrez ID:1181; OMIM: 600570; Uniprot ID:CLCN2_HUMAN; ENSEMBL ID: ENSG00000114859; HGNC ID: 2020
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLCN2|1181|nucleotide
ATGGCGGCCGCGGCGGCGGAGGAAGGGATGGAGCCACGGGCGCTGCAGTACGAGCAGACCCTGATGTATGGCCGGTACACTCAGGACCTTGGGGCCTTTGCCAAA
GAGGAAGCTGCTCGGATTCGCCTGGGAGGGCCTGAACCCTGGAAAGGTCCCCCTTCCTCTCGGGCTGCCCCAGAGCTCTTGGAATATGGACGGAGCCGTTGCGCC
CGATGCCGCGTCTGTTCTGTCCGCTGCCACAAGTTCCTAGTATCCAGGGTTGGTGAAGATTGGATCTTCCTGGTCCTGCTGGGGCTTCTCATGGCATTGGTCAGC
TGGGTCATGGACTATGCCATTGCTGCCTGTCTGCAAGCCCAGCAGTGGATGTCCCGGGGCTTGAACACCAGCATCTTGCTCCAGTACCTGGCCTGGGTCACCTAC
CCTGTTGTCCTCATCACTTTCTCAGCCGGATTCACACAGATCCTGGCCCCTCAGGCTGTCGGCTCTGGCATCCCTGAGATGAAGACCATCTTGCGGGGAGTGGTG
CTGAAAGAATACCTCACACTCAAGACCTTTATAGCTAAGGTCATTGGGCTGACCTGCGCCCTAGGCAGCGGGATGCCGCTTGGCAAAGAGGGCCCTTTTGTGCAT
ATCGCAAGCATGTGTGCTGCCCTTCTCAGCAAGTTCCTCTCCCTCTTTGGGGGTATCTATGAGAATGAATCCCGGAACACAGAGATGCTGGCTGCCGCCTGTGCC
GTGGGGGTGGGCTGCTGCTTCGCGGCACCTATTGGAGGCGTCCTCTTCAGCATCGAGGTCACCTCCACCTTCTTTGCAGTGCGGAACTACTGGCGGGGCTTCTTC
GCTGCCACCTTCAGTGCCTTCATCTTCCGGGTCTTGGCAGTCTGGAACCGGGATGAAGAGACTATTACAGCCCTCTTCAAAACCCGATTCCGGCTCGACTTCCCC
TTTGACCTGCAGGAGCTGCCAGCCTTTGCTGTCATTGGTATTGCTAGTGGCTTCGGTGGAGCCCTCTTTGTCTACCTGAACCGGAAGATTGTCCAGGTGATGCGG
AAGCAGAAAACCATCAATCGCTTCCTCATGAGGAAACGCCTGCTCTTCCCGGCTCTGGTGACCCTGCTCATCTCCACGCTGACCTTCCCCCCTGGCTTTGGACAG
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>CLCN2|1181|protein
MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPELLEYGRSRCARCRVCSVRCHKFLVSRVGEDWIFLVLLGLLMALVS
WVMDYAIAACLQAQQWMSRGLNTSILLQYLAWVTYPVVLITFSAGFTQILAPQAVGSGIPEMKTILRGVVLKEYLTLKTFIAKVIGLTCALGSGMPLGKEGPFVH
IASMCAALLSKFLSLFGGIYENESRNTEMLAAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEETITALFKTRFRLDFP
FDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLMRKRLLFPALVTLLISTLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPST
SQAWNPPRANVFLTLVIFILMKFWMSALATTIPVPCGAFMPVFVIDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELTGQIAHILPVMIAVILAN
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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 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top