AutismKB 2.0

Evidence Details for CLCN7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CLCN7 ( CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4 )
Gene Full Name: chloride channel 7
Band: 16p13.3
Quick LinksEntrez ID:1186; OMIM: 602727; Uniprot ID:CLCN7_HUMAN; ENSEMBL ID: ENSG00000103249; HGNC ID: 2025
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLCN7|1186|nucleotide
ATGGCCAACGTCTCTAAGAAGGTGTCCTGGTCCGGCCGGGACCGGGACGACGAGGAGGCGGCGCCGCTGCTGCGGAGGACGGCGCGGCCCGGCGGGGGGACGCCG
CTGCTGAACGGGGCTGGGCCTGGGGCTGCGCGCCAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTAT
GAGAGCTTGGACTATGACAACAGTGAGAACCAGCTGTTCCTGGAGGAGGAGCGGCGGATCAATCACACGGCCTTCCGGACGGTGGAGATCAAGCGCTGGGTCATC
TGCGCCCTCATTGGGATCCTCACGGGCCTCGTGGCCTGCTTCATTGACATCGTGGTGGAAAACCTGGCTGGCCTCAAGTACAGGGTCATCAAGGGCAATATCGAC
AAGTTCACAGAGAAGGGCGGACTGTCCTTCTCCCTGTTGCTGTGGGCCACGCTGAACGCCGCCTTCGTGCTCGTGGGCTCTGTGATTGTGGCTTTCATAGAGCCG
GTGGCTGCTGGCAGCGGAATCCCCCAGATCAAGTGCTTCCTCAACGGGGTGAAGATCCCCCACGTGGTGCGGCTCAAGACGTTGGTGATCAAAGTGTCCGGTGTG
ATCCTGTCCGTGGTCGGGGGCCTGGCCGTGGGAAAGGAAGGGCCGATGATCCACTCAGGTTCAGTGATTGCCGCCGGGATCTCTCAGGGAAGGTCAACGTCACTG
AAACGAGATTTCAAGATCTTCGAGTACTTCCGCAGAGACACAGAGAAGCGGGACTTCGTCTCCGCAGGGGCTGCGGCCGGAGTGTCAGCGGCGTTTGGAGCCCCC
GTGGGTGGGGTCCTGTTCAGCTTGGAGGAGGGTGCGTCCTTCTGGAACCAGTTCCTGACCTGGAGGATCTTCTTTGCTTCCATGATCTCCACGTTCACCCTGAAT
TTTGTTCTGAGCATTTACCACGGGAACATGTGGGACCTGTCCAGCCCAGGCCTCATCAACTTCGGAAGGTTTGACTCGGAGAAAATGGCCTACACGATCCACGAG
ATCCCGGTCTTCATCGCCATGGGCGTGGTGGGCGGTGTGCTTGGAGCAGTGTTCAATGCCTTGAACTACTGGCTGACCATGTTTCGAATCAGGTACATCCACCGG
Show »

>CLCN7|1186|protein
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVI
CALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGV
ILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLN
FVLSIYHGNMWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQGG
SMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYAL
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top