AutismKB 2.0

Evidence Details for COMMD4


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Basic Information Top
Gene Symbol:COMMD4 ( FLJ20452 )
Gene Full Name: COMM domain containing 4
Band: 15q24.2
Quick LinksEntrez ID:54939; OMIM: NA; Uniprot ID:COMD4_HUMAN; ENSEMBL ID: ENSG00000140365; HGNC ID: 26027
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>COMMD4|54939|nucleotide
ATGAGGTTCCGGTTCTGTGGTGATCTGGACTGTCCCGACTGGGTCCTGGCAGAAATCAGCACGCTGGCCAAGATGTCCTCTGTGAAGTTGCGGCTGCTCTGCAGC
CAGGTACTAAAGGAGCTGCTGGGACAGGGGATTGATTATGAGAAGATCCTGAAGCTCACGGCTGACGCCAAGTTTGAGTCAGGCGATGTGAAGGCCACAGTGGCA
GTGCTGAGTTTCATCCTCTCCAGTGCGGCCAAGCACAGTGTCGATGGCGAATCCTTGTCCAGTGAACTGCAGCAGCTGGGGCTGCCCAAAGAGCACGCGGCCAGC
CTGTGCCGCTGTTATGAGGAGAAGCAAAGCCCCTTGCAGAAGCACTTGCGGGTCTGCAGCCTACGCATGAATAGGTTGGCAGGTGTGGGCTGGCGGGTGGACTAC
ACCCTGAGCTCCAGCCTGCTGCAATCCGTGGAAGAGCCCATGGTGCACCTGCGGCTGGAGGTGGCAGCTGCCCCAGGGACCCCAGCCCAGCCTGTTGCCATGTCC
CTCTCAGCAGACAAGTTCCAGGTCCTCCTGGCAGAACTGAAGCAGGCCCAGACCCTGATGAGCTCCCTGGGCTGA





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>COMMD4|54939|protein
MRFRFCGDLDCPDWVLAEISTLAKMSSVKLRLLCSQVLKELLGQGIDYEKILKLTADAKFESGDVKATVAVLSFILSSAAKHSVDGESLSSELQQLGLPKEHAAS
LCRCYEEKQSPLQKHLRVCSLRMNRLAGVGWRVDYTLSSSLLQSVEEPMVHLRLEVAAAPGTPAQPVAMSLSADKFQVLLAELKQAQTLMSSLG



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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) 1 (4) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
1.26 Up -
  • Platform: a custom printed microarray containing 39,936 human PCR amplicon probes derived from cDNA clones purchased from Research Genetics (Invitrogen )
  • ProbeSet: -
  • RefSeq_ID/ EST: AA458486
  • GEO_ID: GSE15451
  • Statistic Method: one-class SAM by MeV
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018