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ILDR1 (immunoglobulin like domain containing receptor 1)

Identity

Alias_namesDFNB42
deafness, autosomal recessive 42
immunoglobulin-like domain containing receptor 1
Alias_symbol (synonym)MGC50831
Other aliasILDR1alpha
ILDR1alpha'
ILDR1beta
HGNC (Hugo) ILDR1
LocusID (NCBI) 286676
Atlas_Id 54376
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 121706170 and ends at 121741127 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GOLGB1 (3q13.33) / ILDR1 (3q13.33)IQCB1 (3q13.33) / ILDR1 (3q13.33)IQCB1 3q13.33 / ILDR1 3q13.33

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)ILDR1   28741
Cards
Entrez_Gene (NCBI)ILDR1  286676  immunoglobulin like domain containing receptor 1
AliasesDFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta
GeneCards (Weizmann)ILDR1
Ensembl hg19 (Hinxton)ENSG00000145103 [Gene_View]  chr3:121706170-121741127 [Contig_View]  ILDR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145103 [Gene_View]  chr3:121706170-121741127 [Contig_View]  ILDR1 [Vega]
ICGC DataPortalENSG00000145103
TCGA cBioPortalILDR1
AceView (NCBI)ILDR1
Genatlas (Paris)ILDR1
WikiGenes286676
SOURCE (Princeton)ILDR1
Genetics Home Reference (NIH)ILDR1
Genomic and cartography
GoldenPath hg19 (UCSC)ILDR1  -     chr3:121706170-121741127 -  3q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ILDR1  -     3q13.33   [Description]    (hg38-Dec_2013)
EnsemblILDR1 - 3q13.33 [CytoView hg19]  ILDR1 - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBIILDR1 [Mapview hg19]  ILDR1 [Mapview hg38]
OMIM609646   609739   
Gene and transcription
Genbank (Entrez)AK129974 AY134857 AY672837 AY672838 AY672839
RefSeq transcript (Entrez)NM_001199799 NM_001199800 NM_175924
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_031870 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)ILDR1
Cluster EST : UnigeneHs.98484 [ NCBI ]
CGAP (NCI)Hs.98484
Alternative Splicing GalleryENSG00000145103
Gene ExpressionILDR1 [ NCBI-GEO ]   ILDR1 [ EBI - ARRAY_EXPRESS ]   ILDR1 [ SEEK ]   ILDR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ILDR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)286676
GTEX Portal (Tissue expression)ILDR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86SU0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86SU0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86SU0
Splice isoforms : SwissVarQ86SU0
PhosPhoSitePlusQ86SU0
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub    LISCH7   
Domain families : Pfam (Sanger)LSR (PF05624)   
Domain families : Pfam (NCBI)pfam05624   
Domain families : Smart (EMBL)IG (SM00409)  
Conserved Domain (NCBI)ILDR1
DMDM Disease mutations286676
Blocks (Seattle)ILDR1
SuperfamilyQ86SU0
Human Protein AtlasENSG00000145103
Peptide AtlasQ86SU0
HPRD13735
IPIIPI00760808   IPI00242656   IPI00385196   IPI00442875   IPI00760556   IPI00760743   IPI00952626   
Protein Interaction databases
DIP (DOE-UCLA)Q86SU0
IntAct (EBI)Q86SU0
FunCoupENSG00000145103
BioGRIDILDR1
STRING (EMBL)ILDR1
ZODIACILDR1
Ontologies - Pathways
QuickGOQ86SU0
Ontology : AmiGOcytosol  plasma membrane  receptor-mediated endocytosis  integral component of membrane  tricellular tight junction  high-density lipoprotein particle receptor activity  positive regulation of peptide hormone secretion  
Ontology : EGO-EBIcytosol  plasma membrane  receptor-mediated endocytosis  integral component of membrane  tricellular tight junction  high-density lipoprotein particle receptor activity  positive regulation of peptide hormone secretion  
NDEx NetworkILDR1
Atlas of Cancer Signalling NetworkILDR1
Wikipedia pathwaysILDR1
Orthology - Evolution
OrthoDB286676
GeneTree (enSembl)ENSG00000145103
Phylogenetic Trees/Animal Genes : TreeFamILDR1
HOVERGENQ86SU0
HOGENOMQ86SU0
Homologs : HomoloGeneILDR1
Homology/Alignments : Family Browser (UCSC)ILDR1
Gene fusions - Rearrangements
Fusion : MitelmanGOLGB1/ILDR1 [3q13.33/3q13.33]  [t(3;3)(q13;q13)]  
Fusion : MitelmanIQCB1/ILDR1 [3q13.33/3q13.33]  [t(3;3)(q13;q13)]  
Fusion: TCGAIQCB1 3q13.33 ILDR1 3q13.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerILDR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ILDR1
dbVarILDR1
ClinVarILDR1
1000_GenomesILDR1 
Exome Variant ServerILDR1
ExAC (Exome Aggregation Consortium)ILDR1 (select the gene name)
Genetic variants : HAPMAP286676
Genomic Variants (DGV)ILDR1 [DGVbeta]
DECIPHER (Syndromes)3:121706170-121741127  ENSG00000145103
CONAN: Copy Number AnalysisILDR1 
Mutations
ICGC Data PortalILDR1 
TCGA Data PortalILDR1 
Broad Tumor PortalILDR1
OASIS PortalILDR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICILDR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDILDR1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ILDR1
DgiDB (Drug Gene Interaction Database)ILDR1
DoCM (Curated mutations)ILDR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ILDR1 (select a term)
intoGenILDR1
Cancer3DILDR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609646    609739   
Orphanet12047   
MedgenILDR1
Genetic Testing Registry ILDR1
NextProtQ86SU0 [Medical]
TSGene286676
GENETestsILDR1
Huge Navigator ILDR1 [HugePedia]
snp3D : Map Gene to Disease286676
BioCentury BCIQILDR1
ClinGenILDR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD286676
Chemical/Pharm GKB GenePA134883110
Clinical trialILDR1
Miscellaneous
canSAR (ICR)ILDR1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineILDR1
EVEXILDR1
GoPubMedILDR1
iHOPILDR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:12 CEST 2017

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