AutismKB 2.0

Evidence Details for NCOA4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NCOA4 ( ARA70,DKFZp762E1112,ELE1,PTC3,RFG )
Gene Full Name: nuclear receptor coactivator 4
Band: 10q11.22
Quick LinksEntrez ID:8031; OMIM: 601984; Uniprot ID:NCOA4_HUMAN; ENSEMBL ID: ENSG00000138293; HGNC ID: 7671
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCOA4|8031|nucleotide
ATGGGGGCCCAGTTGACCACTTTTGCTCTAGCTGGAGCAGTGAGGAGAATGAATACCTTCCAAGACCAGAGTGGCAGCTCCAGTAATAGAGAACCCCTTTTGAGG
TGTAGTGATGCACGGAGGGACTTGGAGCTTGCTATTGGTGGAGTTCTCCGGGCTGAACAGCAAATTAAAGATAACTTGCGAGAGGTCAAAGCTCAGATTCACAGT
TGCATAAGCCGTCACCTGGAATGTCTTAGAAGCCGTGAGGTATGGCTGTATGAACAGGTGGACCTTATTTATCAGCTTAAAGAGGAGACACTTCAACAGCAGGCT
CAGCAGCTCTACTCGTTATTGGGCCAGTTCAATTGTCTTACTCATCAACTGGAGTGTACCCAAAACAAAGATCTAGCCAATCAAGTCTCTGTGTGCCTGGAGAGA
CTGGGCAGTTTGACCCTTAAGCCTGAAGATTCAACTGTCCTGCTCTTTGAAGCTGACACAATTACTCTGCGCCAGACCATCACCACATTTGGGTCTCTCAAAACC
ATTCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGAAGTCAGCATCC
GGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACC
CAAAAGCAGACCTTGGAGAACAGTCAGACTTCTTCCAGAGCCTGCAATTTCTTCAATAATGTCGGGGGAAACCTAAAGGGCTTAGAAAACTGGCTCCTCAAGAGT
GAAAAATCAAGTTATCAAAAGTGTAACAGCCATTCCACTACTAGTTCTTTCTCCATTGAAATGGAAAAGGTTGGAGATCAAGAGCTTCCTGATCAAGATGAGATG
GACCTATCAGATTGGCTAGTGACTCCCCAGGAATCCCATAAGCTGCGGAAGCCTGAGAATGGCAGTCGTGAAACCAGTGAGAAGTTTAAGCTCTTATTCCAGTCC
TATAATGTGAATGATTGGCTTGTCAAGACTGACTCCTGTACCAACTGTCAGGGAAACCAGCCCAAAGGTGTGGAGATTGAAAACCTGGGCAATCTGAAGTGCCTG
Show »

>NCOA4|8031|protein
MGAQLTTFALAGAVRRMNTFQDQSGSSSNREPLLRCSDARRDLELAIGGVLRAEQQIKDNLREVKAQIHSCISRHLECLRSREVWLYEQVDLIYQLKEETLQQQA
QQLYSLLGQFNCLTHQLECTQNKDLANQVSVCLERLGSLTLKPEDSTVLLFEADTITLRQTITTFGSLKTIQIPEHLMAHASSANIGPFLEKRGCISMPEQKSAS
GIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQTSSRACNFFNNVGGNLKGLENWLLKSEKSSYQKCNSHSTTSSFSIEMEKVGDQELPDQDEM
DLSDWLVTPQESHKLRKPENGSRETSEKFKLLFQSYNVNDWLVKTDSCTNCQGNQPKGVEIENLGNLKCLNDHLEAKKPLSTPSMVTEDWLVQNHQDPCKVEEVC
RANEPCTSFAECVCDENCEKEALYKWLLKKEGKDKNGMPVEPKPEPEKHKDSLNMWLCPRKEVIEQTKAPKAMTPSRIADSFQVIKNSPLSEWLIRPPYKEGSPK
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 (1) 0 (0) 0 (0) 0 (0) 4 (5)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top