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DDHD1 (DDHD domain containing 1)

Identity

Alias_namesSPG28
spastic paraplegia 28 (autosomal recessive)
Alias_symbol (synonym)KIAA1705
PA-PLA1
Other aliasPAPLA1
HGNC (Hugo) DDHD1
LocusID (NCBI) 80821
Atlas_Id 62347
Location 14q22.1  [Link to chromosome band 14q22]
Location_base_pair Starts at 53036740 and ends at 53153328 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)
PFKFB2 (1q32.2) / DDHD1 (14q22.1)

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)DDHD1   19714
Cards
Entrez_Gene (NCBI)DDHD1  80821  DDHD domain containing 1
AliasesPA-PLA1; PAPLA1; SPG28
GeneCards (Weizmann)DDHD1
Ensembl hg19 (Hinxton)ENSG00000100523 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100523 [Gene_View]  ENSG00000100523 [Sequence]  chr14:53036740-53153328 [Contig_View]  DDHD1 [Vega]
ICGC DataPortalENSG00000100523
TCGA cBioPortalDDHD1
AceView (NCBI)DDHD1
Genatlas (Paris)DDHD1
WikiGenes80821
SOURCE (Princeton)DDHD1
Genetics Home Reference (NIH)DDHD1
Genomic and cartography
GoldenPath hg38 (UCSC)DDHD1  -     chr14:53036740-53153328 -  14q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDHD1  -     14q22.1   [Description]    (hg19-Feb_2009)
GoldenPathDDHD1 - 14q22.1 [CytoView hg19]  DDHD1 - 14q22.1 [CytoView hg38]
ImmunoBaseENSG00000100523
Mapping of homologs : NCBIDDHD1 [Mapview hg19]  DDHD1 [Mapview hg38]
OMIM609340   614603   
Gene and transcription
Genbank (Entrez)AB051492 AI871726 AK058137 AK091528 AK124546
RefSeq transcript (Entrez)NM_001160147 NM_001160148 NM_030637
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDHD1
Cluster EST : UnigeneHs.125525 [ NCBI ]
CGAP (NCI)Hs.125525
Alternative Splicing GalleryENSG00000100523
Gene ExpressionDDHD1 [ NCBI-GEO ]   DDHD1 [ EBI - ARRAY_EXPRESS ]   DDHD1 [ SEEK ]   DDHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)DDHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80821
GTEX Portal (Tissue expression)DDHD1
Human Protein AtlasENSG00000100523-DDHD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEL9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEL9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEL9
Splice isoforms : SwissVarQ8NEL9
PhosPhoSitePlusQ8NEL9
Domaine pattern : Prosite (Expaxy)DDHD (PS51043)   
Domains : Interpro (EBI)DDHD_dom   
Domain families : Pfam (Sanger)DDHD (PF02862)   
Domain families : Pfam (NCBI)pfam02862   
Domain families : Smart (EMBL)DDHD (SM01127)  
Conserved Domain (NCBI)DDHD1
DMDM Disease mutations80821
Blocks (Seattle)DDHD1
SuperfamilyQ8NEL9
Human Protein Atlas [tissue]ENSG00000100523-DDHD1 [tissue]
Peptide AtlasQ8NEL9
HPRD07482
IPIIPI00376941   IPI00794129   IPI00956137   IPI01025328   IPI00848041   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEL9
IntAct (EBI)Q8NEL9
FunCoupENSG00000100523
BioGRIDDDHD1
STRING (EMBL)DDHD1
ZODIACDDHD1
Ontologies - Pathways
QuickGOQ8NEL9
Ontology : AmiGOphospholipase activity  protein binding  cytosol  phosphatidic acid biosynthetic process  lipid catabolic process  metal ion binding  positive regulation of mitochondrial fission  
Ontology : EGO-EBIphospholipase activity  protein binding  cytosol  phosphatidic acid biosynthetic process  lipid catabolic process  metal ion binding  positive regulation of mitochondrial fission  
Pathways : KEGG2,4-Dichlorobenzoate degradation    Butanoate metabolism    Alkaloid biosynthesis II   
NDEx NetworkDDHD1
Atlas of Cancer Signalling NetworkDDHD1
Wikipedia pathwaysDDHD1
Orthology - Evolution
OrthoDB80821
GeneTree (enSembl)ENSG00000100523
Phylogenetic Trees/Animal Genes : TreeFamDDHD1
HOGENOMQ8NEL9
Homologs : HomoloGeneDDHD1
Homology/Alignments : Family Browser (UCSC)DDHD1
Gene fusions - Rearrangements
Fusion : QuiverDDHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDHD1
dbVarDDHD1
ClinVarDDHD1
1000_GenomesDDHD1 
Exome Variant ServerDDHD1
ExAC (Exome Aggregation Consortium)ENSG00000100523
GNOMAD BrowserENSG00000100523
Varsome BrowserDDHD1
Genetic variants : HAPMAP80821
Genomic Variants (DGV)DDHD1 [DGVbeta]
DECIPHERDDHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDHD1 
Mutations
ICGC Data PortalDDHD1 
TCGA Data PortalDDHD1 
Broad Tumor PortalDDHD1
OASIS PortalDDHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDDHD1
Mutations and Diseases : HGMDDDHD1
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 DDHD1
DgiDB (Drug Gene Interaction Database)DDHD1
DoCM (Curated mutations)DDHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDHD1 (select a term)
intoGenDDHD1
Cancer3DDDHD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609340    614603   
Orphanet14719   
DisGeNETDDHD1
MedgenDDHD1
Genetic Testing Registry DDHD1
NextProtQ8NEL9 [Medical]
TSGene80821
GENETestsDDHD1
Target ValidationDDHD1
Huge Navigator DDHD1 [HugePedia]
snp3D : Map Gene to Disease80821
BioCentury BCIQDDHD1
ClinGenDDHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80821
Chemical/Pharm GKB GenePA134861440
Clinical trialDDHD1
Miscellaneous
canSAR (ICR)DDHD1 (select the gene name)
DataMed IndexDDHD1
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDHD1
EVEXDDHD1
GoPubMedDDHD1
iHOPDDHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:25:20 CEST 2019
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