AutismKB 2.0

Evidence Details for MED22


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Basic Information Top
Gene Symbol:MED22 ( MED24,MGC48682,SURF5 )
Gene Full Name: mediator complex subunit 22
Band: 9q34.2
Quick LinksEntrez ID:6837; OMIM: 185641; Uniprot ID:MED22_HUMAN; ENSEMBL ID: ENSG00000148297; HGNC ID: 11477
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MED22|6837|nucleotide
ATGGCCCAGCAGAGAGCCCTGCCCCAGAGCAAGGAGACGCTGCTGCAGTCCTACAACAAGCGGCTGAAGGACGACATTAAGTCCATCATGGACAACTTCACCGAG
ATCATCAAGACCGCCAAGATTGAGGACGAGACGCAGGTGTCACGGGCCACTCAGGGTGAACAGGACAATTACGAGATGCATGTGCGAGCCGCCAACATCGTCCGA
GCCGGCGAGTCCCTGATGAAGCTGGTGTCCGACCTCAAGCAGTTCCTGATCCTCAATGACTTCCCCTCCGTGAACGAGGCCATTGACCAGCGCAACCAGCAGCTG
CGCACACTGCAGGAGGAGTGCGACCGGAAGCTCATCACGCTGCGAGACGAGATCTCCATTGACCTCTACGAGCTGGAGGAGGAGTATTACTCGTCCAGCTCAAGC
CTTTGCGAAGCTAATGACCTGCCTCTGTGCGAAGCTTACGGGAGGCTGGACCTCGACACAGACTCTGCTGATGGCCTCTCGGCCCCTCTGCTGGCGTCCCCGGAG
CCCAGTGCTGGCCCCCTACAGGTGGCAGCCCCTGCCCACTCCCATGCTGGTGGCCCTGGCCCCACTGAGCACGCCTGA





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>MED22|6837|protein
MAQQRALPQSKETLLQSYNKRLKDDIKSIMDNFTEIIKTAKIEDETQVSRATQGEQDNYEMHVRAANIVRAGESLMKLVSDLKQFLILNDFPSVNEAIDQRNQQL
RTLQEECDRKLITLRDEISIDLYELEEEYYSSSSSLCEANDLPLCEAYGRLDLDTDSADGLSAPLLASPEPSAGPLQVAAPAHSHAGGPGPTEHA



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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) 0 (1) 0 (0) 0 (0) 0 (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