Gene Gene information from NCBI Gene database.
Entrez ID 149018
Gene name Late cornified envelope like proline rich 1
Gene symbol LELP1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
15
miRTarBase ID miRNA Experiments Reference
MIRT1107266 hsa-miR-2467-3p CLIP-seq
MIRT1107267 hsa-miR-3125 CLIP-seq
MIRT1107268 hsa-miR-3170 CLIP-seq
MIRT1107269 hsa-miR-323-5p CLIP-seq
MIRT1107270 hsa-miR-34a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611042 32046 ENSG00000203784
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T871
Protein name Late cornified envelope-like proline-rich protein 1 (Novel small proline-rich protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15042 LELP1 1 98 Late cornified envelope-like proline-rich protein 1 Family
Sequence
Sequence length 98
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 26608070
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 26608070 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 37083227 Inhibit
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 26608070 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 27304082 Stimulate
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 26608070, 27304082
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 26608070, 27304082
★☆☆☆☆
Found in Text Mining only