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ITPRID1 (ITPR interacting domain containing 1)

Identity

Other aliasCCDC129
HGNC (Hugo) ITPRID1
LocusID (NCBI) 223075
Atlas_Id 80272
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 31553002 and ends at 31656502 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


External links

Nomenclature
HGNC (Hugo)ITPRID1   27363
Cards
Entrez_Gene (NCBI)ITPRID1  223075  ITPR interacting domain containing 1
AliasesCCDC129
GeneCards (Weizmann)ITPRID1
Ensembl hg19 (Hinxton)ENSG00000180347 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180347 [Gene_View]  ENSG00000180347 [Sequence]  chr7:31553002-31656502 [Contig_View]  ITPRID1 [Vega]
ICGC DataPortalENSG00000180347
TCGA cBioPortalITPRID1
AceView (NCBI)ITPRID1
Genatlas (Paris)ITPRID1
WikiGenes223075
SOURCE (Princeton)ITPRID1
Genetics Home Reference (NIH)ITPRID1
Genomic and cartography
GoldenPath hg38 (UCSC)ITPRID1  -     chr7:31553002-31656502 +  7p14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITPRID1  -     7p14.3   [Description]    (hg19-Feb_2009)
GoldenPathITPRID1 - 7p14.3 [CytoView hg19]  ITPRID1 - 7p14.3 [CytoView hg38]
ImmunoBaseENSG00000180347
Mapping of homologs : NCBIITPRID1 [Mapview hg19]  ITPRID1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK095663 AK128026 AK295011 AK304387 BC132719
RefSeq transcript (Entrez)NM_001257967 NM_001257968 NM_194300
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITPRID1
Alternative Splicing GalleryENSG00000180347
Gene ExpressionITPRID1 [ NCBI-GEO ]   ITPRID1 [ EBI - ARRAY_EXPRESS ]   ITPRID1 [ SEEK ]   ITPRID1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPRID1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)223075
GTEX Portal (Tissue expression)ITPRID1
Human Protein AtlasENSG00000180347-ITPRID1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZRS4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZRS4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZRS4
Splice isoforms : SwissVarQ6ZRS4
PhosPhoSitePlusQ6ZRS4
Domains : Interpro (EBI)ITPR-bd    SSFA2_C   
Domain families : Pfam (Sanger)KRAP_IP3R_bind (PF14722)    SSFA2_C (PF14723)   
Domain families : Pfam (NCBI)pfam14722    pfam14723   
Domain families : Smart (EMBL)KRAP_IP3R_bind (SM01257)  
Conserved Domain (NCBI)ITPRID1
DMDM Disease mutations223075
Blocks (Seattle)ITPRID1
SuperfamilyQ6ZRS4
Human Protein Atlas [tissue]ENSG00000180347-ITPRID1 [tissue]
Peptide AtlasQ6ZRS4
IPIIPI00941755   IPI00375584   IPI00917698   IPI00879966   IPI01012539   IPI00916881   IPI00917322   IPI00916137   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZRS4
IntAct (EBI)Q6ZRS4
FunCoupENSG00000180347
BioGRIDITPRID1
STRING (EMBL)ITPRID1
ZODIACITPRID1
Ontologies - Pathways
QuickGOQ6ZRS4
Ontology : AmiGOsignaling receptor binding  
Ontology : EGO-EBIsignaling receptor binding  
NDEx NetworkITPRID1
Atlas of Cancer Signalling NetworkITPRID1
Wikipedia pathwaysITPRID1
Orthology - Evolution
OrthoDB223075
GeneTree (enSembl)ENSG00000180347
Phylogenetic Trees/Animal Genes : TreeFamITPRID1
HOGENOMQ6ZRS4
Homologs : HomoloGeneITPRID1
Homology/Alignments : Family Browser (UCSC)ITPRID1
Gene fusions - Rearrangements
Fusion : QuiverITPRID1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPRID1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPRID1
dbVarITPRID1
ClinVarITPRID1
1000_GenomesITPRID1 
Exome Variant ServerITPRID1
ExAC (Exome Aggregation Consortium)ENSG00000180347
GNOMAD BrowserENSG00000180347
Varsome BrowserITPRID1
Genetic variants : HAPMAP223075
Genomic Variants (DGV)ITPRID1 [DGVbeta]
DECIPHERITPRID1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITPRID1 
Mutations
ICGC Data PortalITPRID1 
TCGA Data PortalITPRID1 
Broad Tumor PortalITPRID1
OASIS PortalITPRID1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPRID1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITPRID1
Mutations and Diseases : HGMDITPRID1
BioMutasearch ITPRID1
DgiDB (Drug Gene Interaction Database)ITPRID1
DoCM (Curated mutations)ITPRID1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPRID1 (select a term)
intoGenITPRID1
Cancer3DITPRID1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETITPRID1
MedgenITPRID1
Genetic Testing Registry ITPRID1
NextProtQ6ZRS4 [Medical]
TSGene223075
GENETestsITPRID1
Target ValidationITPRID1
Huge Navigator ITPRID1 [HugePedia]
snp3D : Map Gene to Disease223075
BioCentury BCIQITPRID1
ClinGenITPRID1
Clinical trials, drugs, therapy
Protein Interactions : CTD223075
Pharm GKB GenePA162381298
Clinical trialITPRID1
Miscellaneous
canSAR (ICR)ITPRID1 (select the gene name)
HarmonizomeITPRID1
DataMed IndexITPRID1
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPRID1
EVEXITPRID1
GoPubMedITPRID1
iHOPITPRID1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 19:42:40 CEST 2020

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