Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HCCS (holocytochrome c synthase)

Identity

Alias_namesMLS
holocytochrome c synthase (cytochrome c heme-lyase)
microphthalamia with linear skin defects
Alias_symbol (synonym)CCHL
HGNC (Hugo) HCCS
LocusID (NCBI) 3052
Atlas_Id 47052
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 11129406 and ends at 11141204 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HCCS (Xp22.2) / IQSEC1 (3p25.2)

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

 


External links

Nomenclature
HGNC (Hugo)HCCS   4837
Cards
Entrez_Gene (NCBI)HCCS  3052  holocytochrome c synthase
AliasesCCHL; LSDMCA1; MCOPS7; MLS
GeneCards (Weizmann)HCCS
Ensembl hg19 (Hinxton)ENSG00000004961 [Gene_View]  chrX:11129406-11141204 [Contig_View]  HCCS [Vega]
Ensembl hg38 (Hinxton)ENSG00000004961 [Gene_View]  chrX:11129406-11141204 [Contig_View]  HCCS [Vega]
ICGC DataPortalENSG00000004961
TCGA cBioPortalHCCS
AceView (NCBI)HCCS
Genatlas (Paris)HCCS
WikiGenes3052
SOURCE (Princeton)HCCS
Genetics Home Reference (NIH)HCCS
Genomic and cartography
GoldenPath hg19 (UCSC)HCCS  -     chrX:11129406-11141204 +  Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HCCS  -     Xp22.2   [Description]    (hg38-Dec_2013)
EnsemblHCCS - Xp22.2 [CytoView hg19]  HCCS - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIHCCS [Mapview hg19]  HCCS [Mapview hg38]
OMIM300056   309801   
Gene and transcription
Genbank (Entrez)AI027533 AK097815 AU310864 BC001691 BC095455
RefSeq transcript (Entrez)NM_001122608 NM_001171991 NM_005333
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016460 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)HCCS
Cluster EST : UnigeneHs.211571 [ NCBI ]
CGAP (NCI)Hs.211571
Alternative Splicing GalleryENSG00000004961
Gene ExpressionHCCS [ NCBI-GEO ]   HCCS [ EBI - ARRAY_EXPRESS ]   HCCS [ SEEK ]   HCCS [ MEM ]
Gene Expression Viewer (FireBrowse)HCCS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3052
GTEX Portal (Tissue expression)HCCS
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53701   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53701  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53701
Splice isoforms : SwissVarP53701
Catalytic activity : Enzyme4.4.1.17 [ Enzyme-Expasy ]   4.4.1.174.4.1.17 [ IntEnz-EBI ]   4.4.1.17 [ BRENDA ]   4.4.1.17 [ KEGG ]   
PhosPhoSitePlusP53701
Domaine pattern : Prosite (Expaxy)CYTO_HEME_LYASE_1 (PS00821)    CYTO_HEME_LYASE_2 (PS00822)   
Domains : Interpro (EBI)Cyt_C/C1_haem_lyase   
Domain families : Pfam (Sanger)Cyto_heme_lyase (PF01265)   
Domain families : Pfam (NCBI)pfam01265   
Conserved Domain (NCBI)HCCS
DMDM Disease mutations3052
Blocks (Seattle)HCCS
SuperfamilyP53701
Human Protein AtlasENSG00000004961
Peptide AtlasP53701
HPRD02085
IPIIPI00023406   
Protein Interaction databases
DIP (DOE-UCLA)P53701
IntAct (EBI)P53701
FunCoupENSG00000004961
BioGRIDHCCS
STRING (EMBL)HCCS
ZODIACHCCS
Ontologies - Pathways
QuickGOP53701
Ontology : AmiGOholocytochrome-c synthase activity  mitochondrion  mitochondrial inner membrane  organ morphogenesis  metal ion binding  oxidation-reduction process  
Ontology : EGO-EBIholocytochrome-c synthase activity  mitochondrion  mitochondrial inner membrane  organ morphogenesis  metal ion binding  oxidation-reduction process  
Pathways : KEGGPorphyrin and chlorophyll metabolism   
NDEx NetworkHCCS
Atlas of Cancer Signalling NetworkHCCS
Wikipedia pathwaysHCCS
Orthology - Evolution
OrthoDB3052
GeneTree (enSembl)ENSG00000004961
Phylogenetic Trees/Animal Genes : TreeFamHCCS
HOVERGENP53701
HOGENOMP53701
Homologs : HomoloGeneHCCS
Homology/Alignments : Family Browser (UCSC)HCCS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHCCS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HCCS
dbVarHCCS
ClinVarHCCS
1000_GenomesHCCS 
Exome Variant ServerHCCS
ExAC (Exome Aggregation Consortium)HCCS (select the gene name)
Genetic variants : HAPMAP3052
Genomic Variants (DGV)HCCS [DGVbeta]
DECIPHER (Syndromes)X:11129406-11141204  ENSG00000004961
CONAN: Copy Number AnalysisHCCS 
Mutations
ICGC Data PortalHCCS 
TCGA Data PortalHCCS 
Broad Tumor PortalHCCS
OASIS PortalHCCS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHCCS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHCCS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HCCS
DgiDB (Drug Gene Interaction Database)HCCS
DoCM (Curated mutations)HCCS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HCCS (select a term)
intoGenHCCS
Cancer3DHCCS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300056    309801   
Orphanet2359   
MedgenHCCS
Genetic Testing Registry HCCS
NextProtP53701 [Medical]
TSGene3052
GENETestsHCCS
Huge Navigator HCCS [HugePedia]
snp3D : Map Gene to Disease3052
BioCentury BCIQHCCS
ClinGenHCCS (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3052
Chemical/Pharm GKB GenePA29214
Clinical trialHCCS
Miscellaneous
canSAR (ICR)HCCS (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHCCS
EVEXHCCS
GoPubMedHCCS
iHOPHCCS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:39:07 CET 2016

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