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MYBPC1 (myosin binding protein C1)

Identity

Alias (NCBI)LCCS4
MYBPCC
MYBPCS
MYOTREM
ssMyBP-C
HGNC (Hugo) MYBPC1
HGNC Alias symbssMyBP-C
HGNC Previous namemyosin-binding protein C, slow-type
LocusID (NCBI) 4604
Atlas_Id 54481
Location 12q23.2  [Link to chromosome band 12q23]
Location_base_pair Starts at 101594931 and ends at 101685880 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CHPT1 (12q23.2) / MYBPC1 (12q23.2)MED13L (12q24.21) / MYBPC1 (12q23.2)MYBPC1 (12q23.2) / MYBPC1 (12q23.2)
MYBPC1 (12q23.2) / NPY (7p15.3)MYBPC1 (12q23.2) / PXN (12q24.23)MYBPC1 (12q23.2) / SLC22A11 (11q13.1)
MYBPC1 (12q23.2) / TPM2 (9p13.3)PARPBP (12q23.2) / MYBPC1 (12q23.2)PXN (12q24.23) / MYBPC1 (12q23.2)
RNH1 (11p15.5) / MYBPC1 (12q23.2)TMEM59 (1p32.3) / MYBPC1 (12q23.2)TPM2 (9p13.3) / MYBPC1 (12q23.2)
CHPT1 12q23.2 / MYBPC1 12q23.2MED13L 12q24.21 / MYBPC1 12q23.2MYBPC1 12q23.2 / NPY 7p15.3
MYBPC1 12q23.2 / PXN 12q24.23PXN 12q24.23 / MYBPC1 12q23.2RNH1 11p15.5 / MYBPC1 12q23.2
TMEM59 1p32.3 / MYBPC1 12q23.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  t(1;12)(p32;q23) TMEM59/MYBPC1
t(7;12)(p15;q23) MYBPC1/NPY
t(11;12)(p15;q23) RNH1/MYBPC1
CHPT1/MYBPC1 (12q23)
PARPBP/MYBPC1 (12q23)
t(12;12)(q23;q24) MED13L/MYBPC1
t(12;12)(q23;q24) MYBPC1/PXN
t(12;12)(q23;q24) PXN/MYBPC1

External links

Nomenclature
HGNC (Hugo)MYBPC1   7549
Cards
Entrez_Gene (NCBI)MYBPC1    myosin binding protein C1
AliasesLCCS4; MYBPCC; MYBPCS; MYOTREM; 
ssMyBP-C
GeneCards (Weizmann)MYBPC1
Ensembl hg19 (Hinxton)ENSG00000196091 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196091 [Gene_View]  ENSG00000196091 [Sequence]  chr12:101594931-101685880 [Contig_View]  MYBPC1 [Vega]
ICGC DataPortalENSG00000196091
TCGA cBioPortalMYBPC1
AceView (NCBI)MYBPC1
Genatlas (Paris)MYBPC1
SOURCE (Princeton)MYBPC1
Genetics Home Reference (NIH)MYBPC1
Genomic and cartography
GoldenPath hg38 (UCSC)MYBPC1  -     chr12:101594931-101685880 +  12q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYBPC1  -     12q23.2   [Description]    (hg19-Feb_2009)
GoldenPathMYBPC1 - 12q23.2 [CytoView hg19]  MYBPC1 - 12q23.2 [CytoView hg38]
ImmunoBaseENSG00000196091
genome Data Viewer NCBIMYBPC1 [Mapview hg19]  
OMIM160794   614335   614915   618524   
Gene and transcription
Genbank (Entrez)AA196860 AK056587 AK057284 AK292976 AK295727
RefSeq transcript (Entrez)NM_001254718 NM_001254719 NM_001254720 NM_001254721 NM_001254722 NM_001254723 NM_002465 NM_206819 NM_206820 NM_206821
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYBPC1
Alternative Splicing GalleryENSG00000196091
Gene ExpressionMYBPC1 [ NCBI-GEO ]   MYBPC1 [ EBI - ARRAY_EXPRESS ]   MYBPC1 [ SEEK ]   MYBPC1 [ MEM ]
Gene Expression Viewer (FireBrowse)MYBPC1 [ Firebrowse - Broad ]
GenevisibleExpression of MYBPC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4604
GTEX Portal (Tissue expression)MYBPC1
Human Protein AtlasENSG00000196091-MYBPC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00872   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00872  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00872
Splice isoforms : SwissVarQ00872
PhosPhoSitePlusQ00872
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    MyBP-C_THB   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    THB (PF18362)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam18362   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MYBPC1
Blocks (Seattle)MYBPC1
PDB (RSDB)1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
PDB Europe1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
PDB (PDBSum)1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
PDB (IMB)1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
Structural Biology KnowledgeBase1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
SCOP (Structural Classification of Proteins)1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
CATH (Classification of proteins structures)1X44    2DAV    2YUV    2YUW    2YUX    2YUZ    2YXM   
SuperfamilyQ00872
Human Protein Atlas [tissue]ENSG00000196091-MYBPC1 [tissue]
Peptide AtlasQ00872
HPRD01185
IPIIPI00025092   IPI00384170   IPI00797657   IPI00789615   IPI01010265   IPI01015161   IPI00412087   IPI01018657   IPI01021665   IPI01020911   IPI01022579   IPI01022710   IPI01022241   IPI01022367   IPI00939358   IPI00410261   
Protein Interaction databases
DIP (DOE-UCLA)Q00872
IntAct (EBI)Q00872
BioGRIDMYBPC1
STRING (EMBL)MYBPC1
ZODIACMYBPC1
Ontologies - Pathways
QuickGOQ00872
Ontology : AmiGOactin binding  protein binding  cytosol  cell adhesion  structural constituent of muscle  myofibril  muscle filament sliding  titin binding  myosin filament  
Ontology : EGO-EBIactin binding  protein binding  cytosol  cell adhesion  structural constituent of muscle  myofibril  muscle filament sliding  titin binding  myosin filament  
NDEx NetworkMYBPC1
Atlas of Cancer Signalling NetworkMYBPC1
Wikipedia pathwaysMYBPC1
Orthology - Evolution
OrthoDB4604
GeneTree (enSembl)ENSG00000196091
Phylogenetic Trees/Animal Genes : TreeFamMYBPC1
HOGENOMQ00872
Homologs : HomoloGeneMYBPC1
Homology/Alignments : Family Browser (UCSC)MYBPC1
Gene fusions - Rearrangements
Fusion : MitelmanCHPT1/MYBPC1 [12q23.2/12q23.2]  
Fusion : MitelmanMED13L/MYBPC1 [12q24.21/12q23.2]  
Fusion : MitelmanMYBPC1/NPY [12q23.2/7p15.3]  
Fusion : MitelmanMYBPC1/PXN [12q23.2/12q24.23]  
Fusion : MitelmanPARBP/12q23.2 [MYBPC1/t(12;12)(q23;q23)]  
Fusion : MitelmanPXN/MYBPC1 [12q24.23/12q23.2]  
Fusion : MitelmanRNH1/MYBPC1 [11p15.5/12q23.2]  
Fusion : MitelmanTMEM59/MYBPC1 [1p32.3/12q23.2]  
Fusion PortalCHPT1 12q23.2 MYBPC1 12q23.2 BRCA
Fusion PortalMED13L 12q24.21 MYBPC1 12q23.2 LGG
Fusion PortalMYBPC1 12q23.2 NPY 7p15.3 PRAD
Fusion PortalMYBPC1 12q23.2 PXN 12q24.23 LGG
Fusion PortalPXN 12q24.23 MYBPC1 12q23.2 LGG
Fusion PortalRNH1 11p15.5 MYBPC1 12q23.2 PRAD
Fusion PortalTMEM59 1p32.3 MYBPC1 12q23.2 PRAD
Fusion : QuiverMYBPC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYBPC1 [hg38]
dbVarMYBPC1
ClinVarMYBPC1
MonarchMYBPC1
1000_GenomesMYBPC1 
Exome Variant ServerMYBPC1
GNOMAD BrowserENSG00000196091
Varsome BrowserMYBPC1
Genomic Variants (DGV)MYBPC1 [DGVbeta]
DECIPHERMYBPC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYBPC1 
Mutations
ICGC Data PortalMYBPC1 
TCGA Data PortalMYBPC1 
Broad Tumor PortalMYBPC1
OASIS PortalMYBPC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYBPC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYBPC1
Mutations and Diseases : HGMDMYBPC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch MYBPC1
DgiDB (Drug Gene Interaction Database)MYBPC1
DoCM (Curated mutations)MYBPC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYBPC1 (select a term)
intoGenMYBPC1
Cancer3DMYBPC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160794    614335    614915    618524   
Orphanet421    16716   
DisGeNETMYBPC1
MedgenMYBPC1
Genetic Testing Registry MYBPC1
NextProtQ00872 [Medical]
GENETestsMYBPC1
Target ValidationMYBPC1
Huge Navigator MYBPC1 [HugePedia]
ClinGenMYBPC1
Clinical trials, drugs, therapy
MyCancerGenomeMYBPC1
Protein Interactions : CTD
Pharm GKB GenePA31349
PharosQ00872
Clinical trialMYBPC1
Miscellaneous
canSAR (ICR)MYBPC1 (select the gene name)
HarmonizomeMYBPC1
DataMed IndexMYBPC1
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYBPC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:27:49 CET 2021
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