Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene)

Identity

Alias_namesCMAH
cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)
Other aliasCSAH
HGNC (Hugo) CMAHP
LocusID (NCBI) 8418
Atlas_Id 56557
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 25107973 and ends at 25138392 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)
ATF6B (6p21.33) / CMAHP (6p22.3)CMAHP (6p22.3) / CMAHP (6p22.3)CMAHP (6p22.3) / LRRC16A (6p22.2)
TNXB (6p21.33) / CMAHP (6p22.3)ZBTB24 (6q21) / CMAHP (6p22.3)

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) [ 3 ]
  t(6;6)(p21;p22) ATF6B/CMAHP
t(6;6)(p21;p22) TNXB/CMAHP
t(6;6)(p22;q21) ZBTB24/CMAHP


External links

Nomenclature
HGNC (Hugo)CMAHP   2098
Cards
Entrez_Gene (NCBI)CMAHP  8418  cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
AliasesCMAH; CSAH
GeneCards (Weizmann)CMAHP
Ensembl hg19 (Hinxton)ENSG00000168405 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168405 [Gene_View]  ENSG00000168405 [Sequence]  chr6:25107973-25138392 [Contig_View]  CMAHP [Vega]
ICGC DataPortalENSG00000168405
TCGA cBioPortalCMAHP
AceView (NCBI)CMAHP
Genatlas (Paris)CMAHP
WikiGenes8418
SOURCE (Princeton)CMAHP
Genetics Home Reference (NIH)CMAHP
Genomic and cartography
GoldenPath hg38 (UCSC)CMAHP  -     chr6:25107973-25138392 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CMAHP  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblCMAHP - 6p22.3 [CytoView hg19]  CMAHP - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBICMAHP [Mapview hg19]  CMAHP [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF074480 AK000716 AK303297 BC022302 BC032500
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CMAHP
Cluster EST : UnigeneHs.484918 [ NCBI ]
CGAP (NCI)Hs.484918
Alternative Splicing GalleryENSG00000168405
Gene ExpressionCMAHP [ NCBI-GEO ]   CMAHP [ EBI - ARRAY_EXPRESS ]   CMAHP [ SEEK ]   CMAHP [ MEM ]
Gene Expression Viewer (FireBrowse)CMAHP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8418
GTEX Portal (Tissue expression)CMAHP
Human Protein AtlasENSG00000168405-CMAHP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y471   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y471  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y471
Splice isoforms : SwissVarQ9Y471
PhosPhoSitePlusQ9Y471
Domaine pattern : Prosite (Expaxy)RIESKE (PS51296)   
Domains : Interpro (EBI)Cnh    RibonucZ/Hydroxyglut_hydro   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CMAHP
DMDM Disease mutations8418
Blocks (Seattle)CMAHP
SuperfamilyQ9Y471
Human Protein Atlas [tissue]ENSG00000168405-CMAHP [tissue]
Peptide AtlasQ9Y471
IPIIPI00921331   IPI00641802   IPI00555951   IPI00418499   IPI00641313   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y471
IntAct (EBI)Q9Y471
FunCoupENSG00000168405
BioGRIDCMAHP
STRING (EMBL)CMAHP
ZODIACCMAHP
Ontologies - Pathways
QuickGOQ9Y471
Ontology : AmiGOnucleus  cytoplasm  cytoskeleton  membrane  regulation of Wnt signaling pathway  CMP-N-acetylneuraminate monooxygenase activity  oxidation-reduction process  
Ontology : EGO-EBInucleus  cytoplasm  cytoskeleton  membrane  regulation of Wnt signaling pathway  CMP-N-acetylneuraminate monooxygenase activity  oxidation-reduction process  
NDEx NetworkCMAHP
Atlas of Cancer Signalling NetworkCMAHP
Wikipedia pathwaysCMAHP
Orthology - Evolution
OrthoDB8418
GeneTree (enSembl)ENSG00000168405
Phylogenetic Trees/Animal Genes : TreeFamCMAHP
HOVERGENQ9Y471
HOGENOMQ9Y471
Homologs : HomoloGeneCMAHP
Homology/Alignments : Family Browser (UCSC)CMAHP
Gene fusions - Rearrangements
Fusion : QuiverCMAHP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCMAHP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CMAHP
dbVarCMAHP
ClinVarCMAHP
1000_GenomesCMAHP 
Exome Variant ServerCMAHP
ExAC (Exome Aggregation Consortium)ENSG00000168405
GNOMAD BrowserENSG00000168405
Varsome BrowserCMAHP
Genetic variants : HAPMAP8418
Genomic Variants (DGV)CMAHP [DGVbeta]
DECIPHERCMAHP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCMAHP 
Mutations
ICGC Data PortalCMAHP 
TCGA Data PortalCMAHP 
Broad Tumor PortalCMAHP
OASIS PortalCMAHP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCMAHP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCMAHP
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
BioMutasearch CMAHP
DgiDB (Drug Gene Interaction Database)CMAHP
DoCM (Curated mutations)CMAHP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CMAHP (select a term)
intoGenCMAHP
Cancer3DCMAHP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETCMAHP
MedgenCMAHP
Genetic Testing Registry CMAHP
NextProtQ9Y471 [Medical]
TSGene8418
GENETestsCMAHP
Target ValidationCMAHP
Huge Navigator CMAHP [HugePedia]
snp3D : Map Gene to Disease8418
BioCentury BCIQCMAHP
ClinGenCMAHP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8418
Chemical/Pharm GKB GenePA26624
Clinical trialCMAHP
Miscellaneous
canSAR (ICR)CMAHP (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCMAHP
EVEXCMAHP
GoPubMedCMAHP
iHOPCMAHP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:58:59 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.