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HDHD5 (haloacid dehalogenase like hydrolase domain containing 5)

Identity

Alias_namesCECR5
cat eye syndrome chromosome region, candidate 5
Other alias
HGNC (Hugo) HDHD5
LocusID (NCBI) 27440
Atlas_Id 79491
Location 22q11.1  [Link to chromosome band 22q11]
Location_base_pair Starts at 17137520 and ends at 17165287 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)

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)HDHD5   1843
Cards
Entrez_Gene (NCBI)HDHD5  27440  haloacid dehalogenase like hydrolase domain containing 5
AliasesCECR5
GeneCards (Weizmann)HDHD5
Ensembl hg19 (Hinxton)ENSG00000069998 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000069998 [Gene_View]  chr22:17137520-17165287 [Contig_View]  HDHD5 [Vega]
ICGC DataPortalENSG00000069998
TCGA cBioPortalHDHD5
AceView (NCBI)HDHD5
Genatlas (Paris)HDHD5
WikiGenes27440
SOURCE (Princeton)HDHD5
Genetics Home Reference (NIH)HDHD5
Genomic and cartography
GoldenPath hg38 (UCSC)HDHD5  -     chr22:17137520-17165287 -  22q11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HDHD5  -     22q11.1   [Description]    (hg19-Feb_2009)
EnsemblHDHD5 - 22q11.1 [CytoView hg19]  HDHD5 - 22q11.1 [CytoView hg38]
Mapping of homologs : NCBIHDHD5 [Mapview hg19]  HDHD5 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF273270 AF273271 AK000461 AK001034 AK123646
RefSeq transcript (Entrez)NM_017829 NM_033070
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HDHD5
Cluster EST : UnigeneHs.26890 [ NCBI ]
CGAP (NCI)Hs.26890
Alternative Splicing GalleryENSG00000069998
Gene ExpressionHDHD5 [ NCBI-GEO ]   HDHD5 [ EBI - ARRAY_EXPRESS ]   HDHD5 [ SEEK ]   HDHD5 [ MEM ]
Gene Expression Viewer (FireBrowse)HDHD5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27440
GTEX Portal (Tissue expression)HDHD5
Human Protein AtlasENSG00000069998-HDHD5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXW7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXW7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXW7
Splice isoforms : SwissVarQ9BXW7
PhosPhoSitePlusQ9BXW7
Domains : Interpro (EBI)CECR5    HAD-like_dom    HAD-SF_hydro_IIA    HAD-SF_hydro_IIA_CECR5   
Domain families : Pfam (Sanger)Hydrolase_6 (PF13344)   
Domain families : Pfam (NCBI)pfam13344   
Conserved Domain (NCBI)HDHD5
DMDM Disease mutations27440
Blocks (Seattle)HDHD5
SuperfamilyQ9BXW7
Human Protein Atlas [tissue]ENSG00000069998-HDHD5 [tissue]
Peptide AtlasQ9BXW7
IPIIPI00011511   IPI00299177   IPI00853431   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXW7
IntAct (EBI)Q9BXW7
FunCoupENSG00000069998
BioGRIDHDHD5
STRING (EMBL)HDHD5
ZODIACHDHD5
Ontologies - Pathways
QuickGOQ9BXW7
Ontology : AmiGOmitochondrion  glycerophospholipid biosynthetic process  
Ontology : EGO-EBImitochondrion  glycerophospholipid biosynthetic process  
NDEx NetworkHDHD5
Atlas of Cancer Signalling NetworkHDHD5
Wikipedia pathwaysHDHD5
Orthology - Evolution
OrthoDB27440
GeneTree (enSembl)ENSG00000069998
Phylogenetic Trees/Animal Genes : TreeFamHDHD5
HOVERGENQ9BXW7
HOGENOMQ9BXW7
Homologs : HomoloGeneHDHD5
Homology/Alignments : Family Browser (UCSC)HDHD5
Gene fusions - Rearrangements
Tumor Fusion PortalHDHD5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHDHD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HDHD5
dbVarHDHD5
ClinVarHDHD5
1000_GenomesHDHD5 
Exome Variant ServerHDHD5
ExAC (Exome Aggregation Consortium)ENSG00000069998
GNOMAD BrowserENSG00000069998
Genetic variants : HAPMAP27440
Genomic Variants (DGV)HDHD5 [DGVbeta]
DECIPHERHDHD5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHDHD5 
Mutations
ICGC Data PortalHDHD5 
TCGA Data PortalHDHD5 
Broad Tumor PortalHDHD5
OASIS PortalHDHD5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDHDHD5
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 HDHD5
DgiDB (Drug Gene Interaction Database)HDHD5
DoCM (Curated mutations)HDHD5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HDHD5 (select a term)
intoGenHDHD5
Cancer3DHDHD5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHDHD5
MedgenHDHD5
Genetic Testing Registry HDHD5
NextProtQ9BXW7 [Medical]
TSGene27440
GENETestsHDHD5
Target ValidationHDHD5
Huge Navigator HDHD5 [HugePedia]
snp3D : Map Gene to Disease27440
BioCentury BCIQHDHD5
ClinGenHDHD5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27440
Chemical/Pharm GKB GenePA26386
Clinical trialHDHD5
Miscellaneous
canSAR (ICR)HDHD5 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHDHD5
EVEXHDHD5
GoPubMedHDHD5
iHOPHDHD5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:43:43 CET 2017

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