AutismKB 2.0

Annotation Detail for MYO5A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYO5A ( GS1,MYH12,MYO5,MYR12 )
Gene Full Name: myosin VA (heavy chain 12, myoxin)
Band: 15q21.2
Quick LinksEntrez ID:4644; OMIM: 160777; Uniprot ID:MYO5A_HUMAN; ENSEMBL ID: ENSG00000197535; HGNC ID: 7602
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
600Phosphoserine.
1213Phosphoserine.
1760Phosphothreonine (Potential).
Location(AA) Modifications Resource
600Phosphoserine (By similarity).Swiss-Prot 53.0
1213Phosphoserine.Swiss-Prot 53.0
1213PhosphoserinePhospho.ELM 6.0
1760Phosphothreonine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
147Phosphotyrosine(Syk)HMM predict
147Phosphotyrosine(SRC)HMM predict
170Phosphothreonine(PKC)HMM predict
184Phosphoserine(IKK)HMM predict
216N-linkedHMM predict
286N-linkedHMM predict
293Phosphoserine(CDC2)HMM predict
347Phosphoserine(IKK)HMM predict
347O-linkedHMM predict
376S-palmitoylHMM predict
387Phosphotyrosine(INSR)HMM predict
477Phosphotyrosine(Syk)HMM predict
477Phosphotyrosine(INSR)HMM predict
600Phosphoserine(CDK)HMM predict
600Phosphoserine(CDC2)HMM predict
602O-linkedHMM predict
603Phosphoserine(IKK)HMM predict
607O-linkedHMM predict
610Phosphothreonine(CDK)HMM predict
610Phosphothreonine(MAPK)HMM predict
615Phosphothreonine(CDK)HMM predict
615Phosphothreonine(CDC2)HMM predict
620Phosphothreonine(PKC)HMM predict
651N-linkedHMM predict
689Phosphothreonine(PKC)HMM predict
693Phosphoserine(PKG)HMM predict
726Phosphothreonine(PKC)HMM predict
841Phosphothreonine(PKA)HMM predict
1092Phosphotyrosine(Syk)HMM predict
1113Phosphothreonine(PKA)HMM predict
1115Phosphoserine(IKK)HMM predict
1118Phosphoserine(CK1)HMM predict
1238O-linkedHMM predict
1254Phosphoserine(CK2)HMM predict
1256Phosphoserine(CK2)HMM predict
1275Phosphoserine(ATM)HMM predict
1319N-linkedHMM predict
1351Phosphoserine(ATM)HMM predict
1355Phosphoserine(ATM)HMM predict
1567S-palmitoylHMM predict
1581N-linkedHMM predict
1586N-linkedHMM predict
1610Phosphotyrosine(Jak)HMM predict
1650Phosphothreonine(PKA)HMM predict
1651Phosphoserine(PKA)HMM predict
1652Phosphoserine(PKB)HMM predict
1724Phosphoserine(ATM)HMM predict
1743Phosphothreonine(PKC)HMM predict
1760Phosphothreonine(CK2)HMM predict
1832N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000259
  • Location:chr15 50386770-50608538
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50608616 50608838 222 189
CTCF CD4SISSRdata 50608616 50608838 222 189
H3K27me3 colorectalcancer 50609064 50610252 1188 1120
H3K27me3 colorectalcancer 50611640 50612147 507 3355
H3K4me3 colorectalcancer 50608956 50609298 342 589
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50410923 50411233 310 0
CTCF CD4SISSRdata 50410923 50411233 310 0
CTCF G2GSE9613 50608020 50608731 711 0
ER E2-MCF7GSE14664 50566246 50566329 83 0
ER Fulvestrant-MCF7GSE14664 50577094 50577205 111 0
FOXA1 eGFPGSE10845 50414146 50414697 551 0
H3K4me2 HCT116GSE10453 50606987 50607873 886 0
KLF4 hESGSE17917 50545546 50545705 159 0
NFkBII GM12878GSE19485 50461597 50463478 1881 0
NRSF JurkatSISSRdata 50411104 50411268 164 0
Nanog ESGSE20650 50538731 50539015 284 0
Oct1 H2O2-HelaGSE14283 50519045 50519073 28 0
Oct1 HelaGSE14283 50510847 50510892 45 0
Oct4 hESGSE17917 50471839 50472141 302 0
Oct4 hESGSE21916 50471819 50472321 502 0
RARA MCF7GSE15244 50410832 50411978 1146 0
RARA MCF7GSE15244 50514257 50514729 472 0
RNAII Tamoxifen-MCF7GSE14664 50494790 50494863 73 0
TAF HelaGSE8489 50514257 50514471 214 0
TFAP2C MCF7GSE21234 50471775 50472205 430 0
hScc1 BcellGSE12603 50410900 50411384 484 0
hScc1 BcellGSE12603 50423761 50424059 298 0
hScc1 BcellGSE12603 50545909 50546273 364 0
hScc1 BcellGSE12603 50607675 50609298 1623 0
hScc1 CdLSGSE12603 50410761 50411629 868 0
p63 keratinocytesGSE17611 50414045 50414808 763 0
p63 keratinocytesGSE17611 50584578 50585339 761 0
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


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