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ISLR (immunoglobulin superfamily containing leucine rich repeat)

Identity

Alias_symbol (synonym)HsT17563
Other aliasMeflin
HGNC (Hugo) ISLR
LocusID (NCBI) 3671
Atlas_Id 64671
Location 15q24.1  [Link to chromosome band 15q24]
Location_base_pair Starts at 74173746 and ends at 74176871 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)
CHST15 (10q26.13) / ISLR (15q24.1)FAM219A (9p13.3) / ISLR (15q24.1)ISLR (15q24.1) / FAM219A (9p13.3)
PLEKHA2 (8p11.22) / ISLR (15q24.1)SPG11 (15q21.1) / ISLR (15q24.1)

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)ISLR   6133
Cards
Entrez_Gene (NCBI)ISLR  3671  immunoglobulin superfamily containing leucine rich repeat
AliasesHsT17563; Meflin
GeneCards (Weizmann)ISLR
Ensembl hg19 (Hinxton)ENSG00000129009 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129009 [Gene_View]  chr15:74173746-74176871 [Contig_View]  ISLR [Vega]
ICGC DataPortalENSG00000129009
TCGA cBioPortalISLR
AceView (NCBI)ISLR
Genatlas (Paris)ISLR
WikiGenes3671
SOURCE (Princeton)ISLR
Genetics Home Reference (NIH)ISLR
Genomic and cartography
GoldenPath hg38 (UCSC)ISLR  -     chr15:74173746-74176871 +  15q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ISLR  -     15q24.1   [Description]    (hg19-Feb_2009)
EnsemblISLR - 15q24.1 [CytoView hg19]  ISLR - 15q24.1 [CytoView hg38]
Mapping of homologs : NCBIISLR [Mapview hg19]  ISLR [Mapview hg38]
OMIM602059   
Gene and transcription
Genbank (Entrez)AB003184 AB024536 AK000817 AK074668 AK223267
RefSeq transcript (Entrez)NM_005545 NM_201526
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ISLR
Cluster EST : UnigeneHs.745166 [ NCBI ]
CGAP (NCI)Hs.745166
Alternative Splicing GalleryENSG00000129009
Gene ExpressionISLR [ NCBI-GEO ]   ISLR [ EBI - ARRAY_EXPRESS ]   ISLR [ SEEK ]   ISLR [ MEM ]
Gene Expression Viewer (FireBrowse)ISLR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3671
GTEX Portal (Tissue expression)ISLR
Human Protein AtlasENSG00000129009-ISLR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14498   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14498  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14498
Splice isoforms : SwissVarO14498
PhosPhoSitePlusO14498
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    LRR (PS51450)   
Domains : Interpro (EBI)Cys-rich_flank_reg_C    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub2    L_dom-like    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp   
Domain families : Pfam (Sanger)I-set (PF07679)    LRR_8 (PF13855)   
Domain families : Pfam (NCBI)pfam07679    pfam13855   
Domain families : Smart (EMBL)IGc2 (SM00408)  LRR_TYP (SM00369)  LRRCT (SM00082)  
Conserved Domain (NCBI)ISLR
DMDM Disease mutations3671
Blocks (Seattle)ISLR
SuperfamilyO14498
Human Protein Atlas [tissue]ENSG00000129009-ISLR [tissue]
Peptide AtlasO14498
HPRD03636
IPIIPI00023648   
Protein Interaction databases
DIP (DOE-UCLA)O14498
IntAct (EBI)O14498
FunCoupENSG00000129009
BioGRIDISLR
STRING (EMBL)ISLR
ZODIACISLR
Ontologies - Pathways
QuickGOO14498
Ontology : AmiGOplatelet degranulation  extracellular region  extracellular space  cell adhesion  platelet alpha granule lumen  extracellular exosome  
Ontology : EGO-EBIplatelet degranulation  extracellular region  extracellular space  cell adhesion  platelet alpha granule lumen  extracellular exosome  
NDEx NetworkISLR
Atlas of Cancer Signalling NetworkISLR
Wikipedia pathwaysISLR
Orthology - Evolution
OrthoDB3671
GeneTree (enSembl)ENSG00000129009
Phylogenetic Trees/Animal Genes : TreeFamISLR
HOVERGENO14498
HOGENOMO14498
Homologs : HomoloGeneISLR
Homology/Alignments : Family Browser (UCSC)ISLR
Gene fusions - Rearrangements
Fusion: Tumor Portal ISLR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerISLR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ISLR
dbVarISLR
ClinVarISLR
1000_GenomesISLR 
Exome Variant ServerISLR
ExAC (Exome Aggregation Consortium)ENSG00000129009
GNOMAD BrowserENSG00000129009
Genetic variants : HAPMAP3671
Genomic Variants (DGV)ISLR [DGVbeta]
DECIPHERISLR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisISLR 
Mutations
ICGC Data PortalISLR 
TCGA Data PortalISLR 
Broad Tumor PortalISLR
OASIS PortalISLR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICISLR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDISLR
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 ISLR
DgiDB (Drug Gene Interaction Database)ISLR
DoCM (Curated mutations)ISLR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ISLR (select a term)
intoGenISLR
Cancer3DISLR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602059   
Orphanet
MedgenISLR
Genetic Testing Registry ISLR
NextProtO14498 [Medical]
TSGene3671
GENETestsISLR
Target ValidationISLR
Huge Navigator ISLR [HugePedia]
snp3D : Map Gene to Disease3671
BioCentury BCIQISLR
ClinGenISLR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3671
Chemical/Pharm GKB GenePA29933
Clinical trialISLR
Miscellaneous
canSAR (ICR)ISLR (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineISLR
EVEXISLR
GoPubMedISLR
iHOPISLR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:51:45 CET 2017

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