AutismKB 2.0

Evidence Details for NARG2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NARG2 ( BRCC1 )
Gene Full Name: NMDA receptor regulated 2
Band: 15q22.2
Quick LinksEntrez ID:79664; OMIM: 610835; Uniprot ID:NARG2_HUMAN; ENSEMBL ID: ENSG00000128915; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NARG2|79664|nucleotide
ATGAAAAAACATGTGAACGAAGAAGTTACTGAGTTCCTAAAGTTTTTGCAGAATTCTGCAAAGAAATGTGCGCAGGATTATAATATGCTTTCTGATGATGCCCGT
CTCTTCACAGAGAAAATTTTAAGAGCTTGCATTGAACAAGTGAAAAAGTATTCAGAATTCTATACTCTCCACGAGGTCACCAGCTTAATGGGATTCTTCCCATTC
AGAGTAGAGATGGGATTAAAGTTAGAAAAAACTCTTCTCGCATTGGGCAGTGTAAAATATGTGAAAACAGTATTTCCCTCAATGCCTATAAAGTTGCAGCTGTCA
AAGGACGATATAGCTACCATTGAAACGTCAGAACAAACAGCTGAAGCTATGCATTATGATATTAGTAAAGATCCAAATGCAGAGAAGCTTGTTTCCAGATATCAC
CCTCAGATAGCTCTAACTAGTCAGTCATTATTTACCTTATTAAATAATCATGGACCAACGTACAAGGAACAGTGGGAAATTCCAGTGTGTATTCAAGTAATACCT
GTTGCAGGTTCAAAACCAGTTAAAGTAATATATATTAATTCACCACTTCCCCAAAAGAAAATGACTATGAGAGAGAGAAATCAAATCTTTCATGAAGTTCCATTA
AAATTTATGATGTCCAAAAACACATCTGTTCCAGTCTCTGCAGTCTTTATGGACAAACCTGAAGAGTTTATATCTGAAATGGACATGTCCTGTGAAGTCAACGAG
TGCCGAAAAATTGAGAGTCTTGAAAACTTGTATTTGGATTTTGATGATGATGTCACAGAACTTGAAACTTTTGGAGTAACCACCACCAAAGTATCAAAATCACCA
AGTCCAGCAAGTACTTCCACAGTACCTAACATGACAGATGCTCCTACAGCCCCCAAAGCAGGAACTACAACTGTGGCACCAAGTGCACCAGACATTTCTGCTAAT
TCTAGAAGTTTATCTCAGATTCTGATGGAACAATTGCAAAAGGAGAAACAGCTGGTCACTGGTATGGATGGTGGCCCTGAGGAATGCAAAAATAAAGATGATCAG
GGATTTGAATCATGTGAAAAGGTATCAAATTCTGACAAGCCTTTGATACAAGATAGTGACTTGAAAACATCTGATGCCTTACAGTTAGAAAATTCTCAGGAAATT
Show »

>NARG2|79664|protein
MKKHVNEEVTEFLKFLQNSAKKCAQDYNMLSDDARLFTEKILRACIEQVKKYSEFYTLHEVTSLMGFFPFRVEMGLKLEKTLLALGSVKYVKTVFPSMPIKLQLS
KDDIATIETSEQTAEAMHYDISKDPNAEKLVSRYHPQIALTSQSLFTLLNNHGPTYKEQWEIPVCIQVIPVAGSKPVKVIYINSPLPQKKMTMRERNQIFHEVPL
KFMMSKNTSVPVSAVFMDKPEEFISEMDMSCEVNECRKIESLENLYLDFDDDVTELETFGVTTTKVSKSPSPASTSTVPNMTDAPTAPKAGTTTVAPSAPDISAN
SRSLSQILMEQLQKEKQLVTGMDGGPEECKNKDDQGFESCEKVSNSDKPLIQDSDLKTSDALQLENSQEIETSNKNDMTIDILHADGERPNVLENLDNSKEKTVG
SEAAKTEDTVLCSSDTDEECLIIDTECKNNSDGKTAVVGSNLSSRPASPNSSSGQASVGNQTNTACSPEESCVLKKPIKRVYKKFDPVGEILKMQDELLKPISRK
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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top