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KIRREL (kin of IRRE like (Drosophila))

Identity

Alias_symbol (synonym)NEPH1
Other alias
HGNC (Hugo) KIRREL
LocusID (NCBI) 55243
Atlas_Id 64937
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 157963063 and ends at 158070052 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
IMMP2L (7q31.1) / KIRREL (1q23.1)KIRREL (1q23.1) / CHD1L (1q21.1)KIRREL (1q23.1) / PRKCA (17q24.2)
KIRREL (1q23.1) / RBP7 (1p36.22)KIRREL (1q23.1) / ZFYVE9 (1p32.3)KRT23 (17q21.2) / KIRREL (1q23.1)
TNS1 (2q35) / KIRREL (1q23.1)

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)KIRREL   15734
Cards
Entrez_Gene (NCBI)KIRREL  55243  kin of IRRE like (Drosophila)
AliasesNEPH1
GeneCards (Weizmann)KIRREL
Ensembl hg19 (Hinxton)ENSG00000183853 [Gene_View]  chr1:157963063-158070052 [Contig_View]  KIRREL [Vega]
Ensembl hg38 (Hinxton)ENSG00000183853 [Gene_View]  chr1:157963063-158070052 [Contig_View]  KIRREL [Vega]
ICGC DataPortalENSG00000183853
TCGA cBioPortalKIRREL
AceView (NCBI)KIRREL
Genatlas (Paris)KIRREL
WikiGenes55243
SOURCE (Princeton)KIRREL
Genetics Home Reference (NIH)KIRREL
Genomic and cartography
GoldenPath hg19 (UCSC)KIRREL  -     chr1:157963063-158070052 +  1q23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIRREL  -     1q23.1   [Description]    (hg38-Dec_2013)
EnsemblKIRREL - 1q23.1 [CytoView hg19]  KIRREL - 1q23.1 [CytoView hg38]
Mapping of homologs : NCBIKIRREL [Mapview hg19]  KIRREL [Mapview hg38]
OMIM607428   
Gene and transcription
Genbank (Entrez)AA628934 AK001707 AK022708 AK090554 AK094163
RefSeq transcript (Entrez)NM_001286349 NM_018240
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)KIRREL
Cluster EST : UnigeneHs.657006 [ NCBI ]
CGAP (NCI)Hs.657006
Alternative Splicing GalleryENSG00000183853
Gene ExpressionKIRREL [ NCBI-GEO ]   KIRREL [ EBI - ARRAY_EXPRESS ]   KIRREL [ SEEK ]   KIRREL [ MEM ]
Gene Expression Viewer (FireBrowse)KIRREL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55243
GTEX Portal (Tissue expression)KIRREL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96J84   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96J84  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96J84
Splice isoforms : SwissVarQ96J84
PhosPhoSitePlusQ96J84
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)CD80_C2-set    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)C2-set_2 (PF08205)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam08205    pfam07679   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)KIRREL
DMDM Disease mutations55243
Blocks (Seattle)KIRREL
SuperfamilyQ96J84
Human Protein AtlasENSG00000183853
Peptide AtlasQ96J84
HPRD06306
IPIIPI00470360   IPI00470361   IPI00470362   IPI00844319   IPI00168249   
Protein Interaction databases
DIP (DOE-UCLA)Q96J84
IntAct (EBI)Q96J84
FunCoupENSG00000183853
BioGRIDKIRREL
STRING (EMBL)KIRREL
ZODIACKIRREL
Ontologies - Pathways
QuickGOQ96J84
Ontology : AmiGOnegative regulation of protein phosphorylation  protein binding  plasma membrane  plasma membrane  cell-cell junction  excretion  integral component of membrane  single organismal cell-cell adhesion  myosin binding  positive regulation of actin filament polymerization  cell projection membrane  dendritic shaft  membrane raft  perinuclear region of cytoplasm  extracellular exosome  
Ontology : EGO-EBInegative regulation of protein phosphorylation  protein binding  plasma membrane  plasma membrane  cell-cell junction  excretion  integral component of membrane  single organismal cell-cell adhesion  myosin binding  positive regulation of actin filament polymerization  cell projection membrane  dendritic shaft  membrane raft  perinuclear region of cytoplasm  extracellular exosome  
NDEx NetworkKIRREL
Atlas of Cancer Signalling NetworkKIRREL
Wikipedia pathwaysKIRREL
Orthology - Evolution
OrthoDB55243
GeneTree (enSembl)ENSG00000183853
Phylogenetic Trees/Animal Genes : TreeFamKIRREL
HOVERGENQ96J84
HOGENOMQ96J84
Homologs : HomoloGeneKIRREL
Homology/Alignments : Family Browser (UCSC)KIRREL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIRREL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIRREL
dbVarKIRREL
ClinVarKIRREL
1000_GenomesKIRREL 
Exome Variant ServerKIRREL
ExAC (Exome Aggregation Consortium)KIRREL (select the gene name)
Genetic variants : HAPMAP55243
Genomic Variants (DGV)KIRREL [DGVbeta]
DECIPHER (Syndromes)1:157963063-158070052  ENSG00000183853
CONAN: Copy Number AnalysisKIRREL 
Mutations
ICGC Data PortalKIRREL 
TCGA Data PortalKIRREL 
Broad Tumor PortalKIRREL
OASIS PortalKIRREL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIRREL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIRREL
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 KIRREL
DgiDB (Drug Gene Interaction Database)KIRREL
DoCM (Curated mutations)KIRREL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIRREL (select a term)
intoGenKIRREL
Cancer3DKIRREL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607428   
Orphanet
MedgenKIRREL
Genetic Testing Registry KIRREL
NextProtQ96J84 [Medical]
TSGene55243
GENETestsKIRREL
Huge Navigator KIRREL [HugePedia]
snp3D : Map Gene to Disease55243
BioCentury BCIQKIRREL
ClinGenKIRREL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55243
Chemical/Pharm GKB GenePA30126
Clinical trialKIRREL
Miscellaneous
canSAR (ICR)KIRREL (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIRREL
EVEXKIRREL
GoPubMedKIRREL
iHOPKIRREL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:09:55 CET 2017

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