AutismKB 2.0

Annotation Detail for MYBPC1


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Basic Information Top
Gene Symbol:MYBPC1 ( MYBPCC,MYBPCS,slow-type )
Gene Full Name: myosin binding protein C, slow type
Band: 12q23.2
Quick LinksEntrez ID:4604; OMIM: 160794; Uniprot ID:MYPC1_HUMAN; ENSEMBL ID: ENSG00000196091; HGNC ID: 7549
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
706Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
23Phosphoserine(CK1)HMM predict
41Phosphothreonine(CDK)HMM predict
54Phosphoserine(ATM)HMM predict
222Phosphotyrosine(INSR)HMM predict
222Phosphotyrosine(Syk)HMM predict
322Phosphotyrosine(Syk)HMM predict
323Phosphotyrosine(Syk)HMM predict
366Phosphoserine(CK2)HMM predict
413Phosphotyrosine(SRC)HMM predict
474Phosphoserine(PKC)HMM predict
501SulfotyrosineHMM predict
509N-linkedHMM predict
550Phosphoserine(ATM)HMM predict
577Phosphoserine(PKB)HMM predict
645Phosphotyrosine(INSR)HMM predict
719O-linkedHMM predict
728O-linkedHMM predict
752Phosphotyrosine(INSR)HMM predict
767Phosphoserine(PKG)HMM predict
775Phosphotyrosine(SRC)HMM predict
775Phosphotyrosine(INSR)HMM predict
1033Phosphotyrosine(INSR)HMM predict
1038Phosphotyrosine(SRC)HMM predict
1038Phosphotyrosine(Syk)HMM predict
1038PhosphotyrosineHMM predict
1063N-linkedHMM predict
1067N-linkedHMM predict
1073N-linkedHMM predict
1123AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_206819
  • Location:chr12 100512877-100603787
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100499107 100499352 245 13648
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 CdLSGSE12603 100606892 100607145 253 3231
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 100588062 100588243 181 0
CTCF CD4SISSRdata 100588062 100588243 181 0
CTCF G2GSE9613 100587952 100588366 414 0
ER Fulvestrant-MCF7GSE14664 100521057 100521100 43 0
ER Fulvestrant-MCF7GSE14664 100534850 100534888 38 0
FOXA1 DLD1GSE12801 100525818 100527087 1269 0
FOXA1 MCF7GSE15244 100526030 100527087 1057 0
FOXA1 MCF7GSE15244 100533924 100534361 437 0
FoxA1 MCF7MACSdata 100526217 100526771 554 0
GATA3 MCF7GSE15244 100531909 100532435 526 0
NFkBII GM12878GSE19485 100521588 100522848 1260 0
Nanog ESGSE20650 100560259 100560734 475 0
Nanog hESGSE18292 100571433 100571710 277 0
Nanog hESGSE18292 100587989 100588379 390 0
Oct1 H2O2-HelaGSE14283 100580064 100580091 27 0
Oct1 HelaGSE14283 100525121 100525150 29 0
Oct1 HelaGSE14283 100534856 100534883 27 0
P300 T30-glioblastomaGSE21026 100521833 100522523 690 0
RARA MCF7GSE15244 100526106 100527087 981 0
RARG MCF7GSE15244 100526452 100526903 451 0
USF2 HepG2E 100526106 100527087 981 0
hScc1 BcellGSE12603 100587877 100588296 419 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
6502 mRNA MYBPC1 chr12 100491214 100582126 243 EST chr12 100542965 100556216Sense/Antisense (SA) pairs

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