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LELP1 (late cornified envelope like proline rich 1)

Identity

Other alias-
HGNC (Hugo) LELP1
LocusID (NCBI) 149018
Atlas_Id 65226
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 153203430 and ends at 153205125 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)
LMX1A (1q23.3) / LELP1 (1q21.3)

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)LELP1   32046
Cards
Entrez_Gene (NCBI)LELP1  149018  late cornified envelope like proline rich 1
Aliases
GeneCards (Weizmann)LELP1
Ensembl hg19 (Hinxton)ENSG00000203784 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203784 [Gene_View]  chr1:153203430-153205125 [Contig_View]  LELP1 [Vega]
ICGC DataPortalENSG00000203784
TCGA cBioPortalLELP1
AceView (NCBI)LELP1
Genatlas (Paris)LELP1
WikiGenes149018
SOURCE (Princeton)LELP1
Genetics Home Reference (NIH)LELP1
Genomic and cartography
GoldenPath hg38 (UCSC)LELP1  -     chr1:153203430-153205125 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LELP1  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblLELP1 - 1q21.3 [CytoView hg19]  LELP1 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBILELP1 [Mapview hg19]  LELP1 [Mapview hg38]
OMIM611042   
Gene and transcription
Genbank (Entrez)BC087854 BC130507 BC130511 DB069578 DB086762
RefSeq transcript (Entrez)NM_001010857
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LELP1
Cluster EST : UnigeneHs.125785 [ NCBI ]
CGAP (NCI)Hs.125785
Alternative Splicing GalleryENSG00000203784
Gene ExpressionLELP1 [ NCBI-GEO ]   LELP1 [ EBI - ARRAY_EXPRESS ]   LELP1 [ SEEK ]   LELP1 [ MEM ]
Gene Expression Viewer (FireBrowse)LELP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)149018
GTEX Portal (Tissue expression)LELP1
Human Protein AtlasENSG00000203784-LELP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T871   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T871  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T871
Splice isoforms : SwissVarQ5T871
PhosPhoSitePlusQ5T871
Domains : Interpro (EBI)Lelp1    SPRR/LCE   
Domain families : Pfam (Sanger)LELP1 (PF15042)   
Domain families : Pfam (NCBI)pfam15042   
Conserved Domain (NCBI)LELP1
DMDM Disease mutations149018
Blocks (Seattle)LELP1
SuperfamilyQ5T871
Human Protein Atlas [tissue]ENSG00000203784-LELP1 [tissue]
Peptide AtlasQ5T871
HPRD17303
IPIIPI00084877   
Protein Interaction databases
DIP (DOE-UCLA)Q5T871
IntAct (EBI)Q5T871
FunCoupENSG00000203784
BioGRIDLELP1
STRING (EMBL)LELP1
ZODIACLELP1
Ontologies - Pathways
QuickGOQ5T871
Ontology : AmiGOcornified envelope  structural molecule activity  cytoplasm  peptide cross-linking  keratinocyte differentiation  
Ontology : EGO-EBIcornified envelope  structural molecule activity  cytoplasm  peptide cross-linking  keratinocyte differentiation  
NDEx NetworkLELP1
Atlas of Cancer Signalling NetworkLELP1
Wikipedia pathwaysLELP1
Orthology - Evolution
OrthoDB149018
GeneTree (enSembl)ENSG00000203784
Phylogenetic Trees/Animal Genes : TreeFamLELP1
HOVERGENQ5T871
HOGENOMQ5T871
Homologs : HomoloGeneLELP1
Homology/Alignments : Family Browser (UCSC)LELP1
Gene fusions - Rearrangements
Tumor Fusion PortalLELP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLELP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LELP1
dbVarLELP1
ClinVarLELP1
1000_GenomesLELP1 
Exome Variant ServerLELP1
ExAC (Exome Aggregation Consortium)ENSG00000203784
GNOMAD BrowserENSG00000203784
Genetic variants : HAPMAP149018
Genomic Variants (DGV)LELP1 [DGVbeta]
DECIPHERLELP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLELP1 
Mutations
ICGC Data PortalLELP1 
TCGA Data PortalLELP1 
Broad Tumor PortalLELP1
OASIS PortalLELP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLELP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLELP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LELP1
DgiDB (Drug Gene Interaction Database)LELP1
DoCM (Curated mutations)LELP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LELP1 (select a term)
intoGenLELP1
Cancer3DLELP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611042   
Orphanet
DisGeNETLELP1
MedgenLELP1
Genetic Testing Registry LELP1
NextProtQ5T871 [Medical]
TSGene149018
GENETestsLELP1
Target ValidationLELP1
Huge Navigator LELP1 [HugePedia]
snp3D : Map Gene to Disease149018
BioCentury BCIQLELP1
ClinGenLELP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD149018
Chemical/Pharm GKB GenePA142671557
Clinical trialLELP1
Miscellaneous
canSAR (ICR)LELP1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLELP1
EVEXLELP1
GoPubMedLELP1
iHOPLELP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:00:44 CET 2017

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