AutismKB 2.0

Evidence Details for CHRNG


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Basic Information Top
Gene Symbol:CHRNG ( ACHRG,MGC133376 )
Gene Full Name: cholinergic receptor, nicotinic, gamma
Band: 2q37.1
Quick LinksEntrez ID:1146; OMIM: 100730; Uniprot ID:ACHG_HUMAN; ENSEMBL ID: ENSG00000196811; HGNC ID: 1967
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHRNG|1146|nucleotide
ATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGGGGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAA
AACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTGAACGAGCGAGAGGAA
GCCCTCACCACCAATGTCTGGATAGAGATGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACC
ATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAACGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGG
CTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTCCCAGACTTACAGCACC
AATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGAGAATGGGGAGTGGGCCATCCAGCAC
CGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTC
ATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTG
CTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTACCTGACCTTCCTCCTGGTGGTG
ACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAGGTGTTCCTGAGGCTC
TTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACT
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>CHRNG|1146|protein
MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLTNLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPST
MVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQH
RPAKMLLDPAAPAQEAGHQKVVFYLLIQRKPLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINVLLAQTVFLFLVAKKVPETSQAVPLISKYLTFLLVV
TILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRLLPQLLRMHVRPLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP
ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAMLSLFICGTAGIFLMAHYNRVPALPFPGDPRPYLPSPD
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (2)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top