AutismKB 2.0

Annotation Detail for MUM1


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Basic Information Top
Gene Symbol:MUM1 ( EXPAND1,FLJ14868,FLJ22283,HSPC211,MGC131891,MGC163315,MUM-1 )
Gene Full Name: melanoma associated antigen (mutated) 1
Band: 19p13.3
Quick LinksEntrez ID:84939; OMIM: NA; Uniprot ID:MUM1_HUMAN; ENSEMBL ID: ENSG00000160953; HGNC ID: 29641
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
365Phosphoserine.
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032853
  • Location:chr19 1306009-1329426
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1305482 1305791 309 373
PHF8 293TGSE20725 1305374 1306412 1038 117
PHF8 HeLaGSE20725 1305151 1306468 1317 200
VDR GM10855-stimGSE22484 1295316 1296356 1040 10174
hScc1 BcellGSE12603 1287026 1287616 590 18689
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (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