AutismKB 2.0

Annotation Detail for MUT


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Basic Information Top
Gene Symbol:MUT ( MCM )
Gene Full Name: methylmalonyl CoA mutase
Band: 6p12.3
Quick LinksEntrez ID:4594; OMIM: 609058; Uniprot ID:MUTA_HUMAN; ENSEMBL ID: ENSG00000146085; HGNC ID: 7526
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
78Phosphothreonine(PKA)HMM predict
262Phosphoserine(ATM)HMM predict
287Phosphotyrosine(Jak)HMM predict
316Phosphotyrosine(INSR)HMM predict
357Phosphoserine(IKK)HMM predict
364Phosphotyrosine(Syk)HMM predict
507N-linkedHMM predict
512N-linkedHMM predict
653Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000255
  • Location:chr6 49506957-49538810
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68minusFBSGSE20725 49538255 49539510 1255 72
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 49537472 49539776 2304 0
H3K4me3 colorectalcancer 49537472 49539776 2304 0
H3ac HepG2E 49537472 49538679 1207 0
Oct1 H2O2-HelaGSE14283 49510491 49510527 36 0
Oct1 H2O2-HelaGSE14283 49529966 49529994 28 0
Oct1 HelaGSE14283 49510493 49510527 34 0
Oct1 HelaGSE14283 49518089 49518128 39 0
Oct1 HelaGSE14283 49529957 49529996 39 0
Oct1 HelaGSE14283 49531756 49531788 32 0
RNAII Tamoxifen-MCF7GSE14664 49529955 49529999 44 0
TAF k562GSE8489 49537472 49538679 1207 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1296 hsa-mir-1296 10 20332239
No data
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