AutismKB 2.0

Annotation Detail for MYH6


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Basic Information Top
Gene Symbol:MYH6 ( ASD3,CMD1EE,CMH14,MYHC,MYHCA,alpha-MHC )
Gene Full Name: myosin, heavy chain 6, cardiac muscle, alpha
Band: 14q11.2
Quick LinksEntrez ID:4624; OMIM: 160710; Uniprot ID:MYH6_HUMAN; ENSEMBL ID: ENSG00000197616; HGNC ID: 7576
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
129N6,N6,N6-trimethyllysine (Potential).
Location(AA) Modifications Resource
129N6,N6,N6-trimethyllysine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
162SulfotyrosineHMM predict
162Phosphotyrosine(Syk)HMM predict
241N-linkedHMM predict
401S-palmitoylHMM predict
433Phosphotyrosine(Syk)HMM predict
445N-linkedHMM predict
480N-linkedHMM predict
483N-linkedHMM predict
502Phosphotyrosine(Syk)HMM predict
502Phosphotyrosine(INSR)HMM predict
603N-linkedHMM predict
744Phosphothreonine(PKA)HMM predict
749Phosphoserine(CK1)HMM predict
1039Phosphoserine(CK1)HMM predict
1094Phosphoserine(CK2)HMM predict
1309Phosphoserine(PKG)HMM predict
1349Phosphotyrosine(Syk)HMM predict
1415Phosphoserine(CK1)HMM predict
1465Phosphoserine(ATM)HMM predict
1467Phosphoserine(CK1)HMM predict
1467Phosphoserine(IKK)HMM predict
1472Phosphoserine(ATM)HMM predict
1472Phosphoserine(CK2)HMM predict
1472Phosphoserine(CK1)HMM predict
1478Phosphoserine(CK1)HMM predict
1512Phosphoserine(CK1)HMM predict
1697Phosphothreonine(PKC)HMM predict
1720Phosphoserine(ATM)HMM predict
1722N-linkedHMM predict
1727N-linkedHMM predict
1845Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002471
  • Location:chr14 22921038-22947323
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22926769 22927117 348 0
CTCF G2GSE9613 22941276 22941694 418 0
Oct1 HelaGSE14283 22942457 22942560 103 0
hScc1 BcellGSE12603 22923468 22923693 225 0
hScc1 BcellGSE12603 22941455 22941694 239 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-133a hsa-mir-133a-1 18 21030712
hsa-miR-133a hsa-mir-133a-2 20 21030712
hsa-miR-133a hsa-mir-133a-1 18 19893015
hsa-miR-133a hsa-mir-133a-2 20 19893015
hsa-miR-208a hsa-mir-208a 14 19726871
hsa-miR-208b hsa-mir-208b 14 19726871
hsa-miR-499-3p hsa-mir-499 20 21030712
hsa-miR-499-5p hsa-mir-499 20 21030712
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


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