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ISPD (isoprenoid synthase domain containing)

Identity

Alias_symbol (synonym)hCG_1745121
IspD
Nip
Other aliasMDDGA7
MDDGC7
HGNC (Hugo) ISPD
LocusID (NCBI) 729920
Atlas_Id 54386
Location 7p21.2  [Link to chromosome band 7p21]
Location_base_pair Starts at 16087527 and ends at 16421322 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)
ANKMY2 (7p21.1) / ISPD (7p21.2)

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) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)ISPD   37276
Cards
Entrez_Gene (NCBI)ISPD  729920  isoprenoid synthase domain containing
AliasesMDDGA7; MDDGC7; Nip; hCG_1745121
GeneCards (Weizmann)ISPD
Ensembl hg19 (Hinxton)ENSG00000214960 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214960 [Gene_View]  chr7:16087527-16421322 [Contig_View]  ISPD [Vega]
ICGC DataPortalENSG00000214960
TCGA cBioPortalISPD
AceView (NCBI)ISPD
Genatlas (Paris)ISPD
WikiGenes729920
SOURCE (Princeton)ISPD
Genetics Home Reference (NIH)ISPD
Genomic and cartography
GoldenPath hg38 (UCSC)ISPD  -     chr7:16087527-16421322 -  7p21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ISPD  -     7p21.2   [Description]    (hg19-Feb_2009)
EnsemblISPD - 7p21.2 [CytoView hg19]  ISPD - 7p21.2 [CytoView hg38]
Mapping of homologs : NCBIISPD [Mapview hg19]  ISPD [Mapview hg38]
OMIM614631   614643   616052   
Gene and transcription
Genbank (Entrez)AK124805 BE092109 DT932748 DY654823 HM005410
RefSeq transcript (Entrez)NM_001101417 NM_001101426
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ISPD
Cluster EST : UnigeneHs.636502 [ NCBI ]
CGAP (NCI)Hs.636502
Alternative Splicing GalleryENSG00000214960
Gene ExpressionISPD [ NCBI-GEO ]   ISPD [ EBI - ARRAY_EXPRESS ]   ISPD [ SEEK ]   ISPD [ MEM ]
Gene Expression Viewer (FireBrowse)ISPD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)729920
GTEX Portal (Tissue expression)ISPD
Human Protein AtlasENSG00000214960-ISPD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4D126   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA4D126  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA4D126
Splice isoforms : SwissVarA4D126
Catalytic activity : Enzyme2.7.7.- [ Enzyme-Expasy ]   2.7.7.-2.7.7.- [ IntEnz-EBI ]   2.7.7.- [ BRENDA ]   2.7.7.- [ KEGG ]   
PhosPhoSitePlusA4D126
Domaine pattern : Prosite (Expaxy)ISPD (PS01295)   
Domains : Interpro (EBI)IspD    ISPD_synthase_CS    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)IspD (PF01128)   
Domain families : Pfam (NCBI)pfam01128   
Conserved Domain (NCBI)ISPD
DMDM Disease mutations729920
Blocks (Seattle)ISPD
PDB (SRS)4CVH   
PDB (PDBSum)4CVH   
PDB (IMB)4CVH   
PDB (RSDB)4CVH   
Structural Biology KnowledgeBase4CVH   
SCOP (Structural Classification of Proteins)4CVH   
CATH (Classification of proteins structures)4CVH   
SuperfamilyA4D126
Human Protein Atlas [tissue]ENSG00000214960-ISPD [tissue]
Peptide AtlasA4D126
IPIIPI00894461   IPI00446107   IPI00893336   
Protein Interaction databases
DIP (DOE-UCLA)A4D126
IntAct (EBI)A4D126
FunCoupENSG00000214960
BioGRIDISPD
STRING (EMBL)ISPD
ZODIACISPD
Ontologies - Pathways
QuickGOA4D126
Ontology : AmiGOaxon guidance  isoprenoid biosynthetic process  protein O-linked mannosylation  cytidylyltransferase activity  
Ontology : EGO-EBIaxon guidance  isoprenoid biosynthetic process  protein O-linked mannosylation  cytidylyltransferase activity  
NDEx NetworkISPD
Atlas of Cancer Signalling NetworkISPD
Wikipedia pathwaysISPD
Orthology - Evolution
OrthoDB729920
GeneTree (enSembl)ENSG00000214960
Phylogenetic Trees/Animal Genes : TreeFamISPD
HOVERGENA4D126
HOGENOMA4D126
Homologs : HomoloGeneISPD
Homology/Alignments : Family Browser (UCSC)ISPD
Gene fusions - Rearrangements
Fusion : MitelmanANKMY2/ISPD [7p21.1/7p21.2]  [del(7)(p21p21)]  
Tumor Fusion PortalISPD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerISPD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ISPD
dbVarISPD
ClinVarISPD
1000_GenomesISPD 
Exome Variant ServerISPD
ExAC (Exome Aggregation Consortium)ENSG00000214960
GNOMAD BrowserENSG00000214960
Genetic variants : HAPMAP729920
Genomic Variants (DGV)ISPD [DGVbeta]
DECIPHERISPD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisISPD 
Mutations
ICGC Data PortalISPD 
TCGA Data PortalISPD 
Broad Tumor PortalISPD
OASIS PortalISPD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICISPD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDISPD
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 ISPD
DgiDB (Drug Gene Interaction Database)ISPD
DoCM (Curated mutations)ISPD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ISPD (select a term)
intoGenISPD
Cancer3DISPD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614631    614643    616052   
Orphanet22511    22066    8725   
DisGeNETISPD
MedgenISPD
Genetic Testing Registry ISPD
NextProtA4D126 [Medical]
TSGene729920
GENETestsISPD
Target ValidationISPD
Huge Navigator ISPD [HugePedia]
snp3D : Map Gene to Disease729920
BioCentury BCIQISPD
ClinGenISPD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD729920
Chemical/Pharm GKB GenePA165618128
Clinical trialISPD
Miscellaneous
canSAR (ICR)ISPD (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineISPD
EVEXISPD
GoPubMedISPD
iHOPISPD
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 14:18:09 CET 2017

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