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KIAA1715 (KIAA1715)

Identity

Other aliasLNP
LNP1
Ul
ulnaless
HGNC (Hugo) KIAA1715
LocusID (NCBI) 80856
Atlas_Id 64899
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 176788620 and ends at 176867073 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KIAA1715 (2q31.1) / EPB41 (1p35.3)MTX2 (2q31.1) / KIAA1715 (2q31.1)

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)KIAA1715   21610
Cards
Entrez_Gene (NCBI)KIAA1715  80856  KIAA1715
AliasesLNP; LNP1; Ul; ulnaless
GeneCards (Weizmann)KIAA1715
Ensembl hg19 (Hinxton)ENSG00000144320 [Gene_View]  chr2:176788620-176867073 [Contig_View]  KIAA1715 [Vega]
Ensembl hg38 (Hinxton)ENSG00000144320 [Gene_View]  chr2:176788620-176867073 [Contig_View]  KIAA1715 [Vega]
ICGC DataPortalENSG00000144320
TCGA cBioPortalKIAA1715
AceView (NCBI)KIAA1715
Genatlas (Paris)KIAA1715
WikiGenes80856
SOURCE (Princeton)KIAA1715
Genetics Home Reference (NIH)KIAA1715
Genomic and cartography
GoldenPath hg19 (UCSC)KIAA1715  -     chr2:176788620-176867073 -  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIAA1715  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblKIAA1715 - 2q31.1 [CytoView hg19]  KIAA1715 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIKIAA1715 [Mapview hg19]  KIAA1715 [Mapview hg38]
OMIM610236   
Gene and transcription
Genbank (Entrez)AB051502 AK056532 AK096916 AK301947 AK302833
RefSeq transcript (Entrez)NM_001305008 NM_001305009 NM_001305010 NM_001305011 NM_030650
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)KIAA1715
Cluster EST : UnigeneHs.209561 [ NCBI ]
CGAP (NCI)Hs.209561
Alternative Splicing GalleryENSG00000144320
Gene ExpressionKIAA1715 [ NCBI-GEO ]   KIAA1715 [ EBI - ARRAY_EXPRESS ]   KIAA1715 [ SEEK ]   KIAA1715 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA1715 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80856
GTEX Portal (Tissue expression)KIAA1715
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0E8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0E8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0E8
Splice isoforms : SwissVarQ9C0E8
PhosPhoSitePlusQ9C0E8
Domains : Interpro (EBI)DUF2296   
Domain families : Pfam (Sanger)DUF2296 (PF10058)   
Domain families : Pfam (NCBI)pfam10058   
Conserved Domain (NCBI)KIAA1715
DMDM Disease mutations80856
Blocks (Seattle)KIAA1715
SuperfamilyQ9C0E8
Human Protein AtlasENSG00000144320
Peptide AtlasQ9C0E8
HPRD13886
IPIIPI00028369   IPI00785171   IPI00784901   IPI01014813   IPI00953712   IPI01010363   IPI00915851   IPI00977697   IPI00916121   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0E8
IntAct (EBI)Q9C0E8
FunCoupENSG00000144320
BioGRIDKIAA1715
STRING (EMBL)KIAA1715
ZODIACKIAA1715
Ontologies - Pathways
QuickGOQ9C0E8
Ontology : AmiGOendoplasmic reticulum membrane  blood coagulation  integral component of membrane  regulation of chondrocyte differentiation  embryonic forelimb morphogenesis  embryonic digit morphogenesis  metal ion binding  limb development  endoplasmic reticulum tubular network  endoplasmic reticulum tubular network organization  
Ontology : EGO-EBIendoplasmic reticulum membrane  blood coagulation  integral component of membrane  regulation of chondrocyte differentiation  embryonic forelimb morphogenesis  embryonic digit morphogenesis  metal ion binding  limb development  endoplasmic reticulum tubular network  endoplasmic reticulum tubular network organization  
NDEx NetworkKIAA1715
Atlas of Cancer Signalling NetworkKIAA1715
Wikipedia pathwaysKIAA1715
Orthology - Evolution
OrthoDB80856
GeneTree (enSembl)ENSG00000144320
Phylogenetic Trees/Animal Genes : TreeFamKIAA1715
HOVERGENQ9C0E8
HOGENOMQ9C0E8
Homologs : HomoloGeneKIAA1715
Homology/Alignments : Family Browser (UCSC)KIAA1715
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA1715 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA1715
dbVarKIAA1715
ClinVarKIAA1715
1000_GenomesKIAA1715 
Exome Variant ServerKIAA1715
ExAC (Exome Aggregation Consortium)KIAA1715 (select the gene name)
Genetic variants : HAPMAP80856
Genomic Variants (DGV)KIAA1715 [DGVbeta]
DECIPHER (Syndromes)2:176788620-176867073  ENSG00000144320
CONAN: Copy Number AnalysisKIAA1715 
Mutations
ICGC Data PortalKIAA1715 
TCGA Data PortalKIAA1715 
Broad Tumor PortalKIAA1715
OASIS PortalKIAA1715 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA1715  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA1715
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 KIAA1715
DgiDB (Drug Gene Interaction Database)KIAA1715
DoCM (Curated mutations)KIAA1715 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA1715 (select a term)
intoGenKIAA1715
Cancer3DKIAA1715(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610236   
Orphanet
MedgenKIAA1715
Genetic Testing Registry KIAA1715
NextProtQ9C0E8 [Medical]
TSGene80856
GENETestsKIAA1715
Huge Navigator KIAA1715 [HugePedia]
snp3D : Map Gene to Disease80856
BioCentury BCIQKIAA1715
ClinGenKIAA1715
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80856
Chemical/Pharm GKB GenePA134938939
Clinical trialKIAA1715
Miscellaneous
canSAR (ICR)KIAA1715 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA1715
EVEXKIAA1715
GoPubMedKIAA1715
iHOPKIAA1715
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 12:09:49 CET 2017

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