AutismKB 2.0

Annotation Detail for MC1R


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Basic Information Top
Gene Symbol:MC1R ( CMM5,MGC14337,MSH-R,SHEP2 )
Gene Full Name: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Band: 16q24.3
Quick LinksEntrez ID:4157; OMIM: 155555; Uniprot ID:MSHR_HUMAN; ENSEMBL ID: ENSG00000258947; HGNC ID: 6929
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
29N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
315S-palmitoyl cysteine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15N-linkedHMM predict
29N-linkedHMM predict
127Phosphoserine(IKK)HMM predict
172O-linkedHMM predict
308Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation 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