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Aliases for LOC101927318 Gene

Subcategory (RNA class) for LOC101927318 Gene

ncRNA

Quality Score for this RNA gene is

13

Aliases for LOC101927318 Gene

  • Uncharacterized LOC101927318 3
  • AC025154.2 5

External Ids for LOC101927318 Gene

Previous GeneCards Identifiers for LOC101927318 Gene

  • GC12U901840
  • GC12M050346

Summaries for LOC101927318 Gene

GeneCards Summary for LOC101927318 Gene

LOC101927318 (Uncharacterized LOC101927318) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with LOC101927318 include Diffuse Palmoplantar Keratoderma, Bothnian Type and Palmoplantar Keratoderma, Bothnian Type.

Additional gene information for LOC101927318 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC101927318 Gene

Genomics for LOC101927318 Gene

GeneHancer (GH) Regulatory Elements for LOC101927318 Gene

Promoters and enhancers for LOC101927318 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J049959 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.5 1464 4.6 PKNOX1 FOXA2 NFIB FEZF1 RAD21 YY1 ZNF335 GLIS2 ZNF366 RCOR1 AQP5 LOC101927318 LIMA1 KMT2D LMBR1L ATF1 SMARCD1 ENSG00000257378
GH12J049952 Enhancer 0.4 dbSUPER 0.4 +9.7 9703 2.4 BHLHE40 CEBPB MNT AQP2 ENSG00000257378 LOC101927318
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOC101927318 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC101927318 Gene

Genomic Locations for LOC101927318 Gene
chr12:49,951,512-49,962,924
(GRCh38/hg38)
Size:
11,413 bases
Orientation:
Minus strand
chr12:50,345,295-50,356,707
(GRCh37/hg19)
Size:
11,413 bases
Orientation:
Minus strand

Genomic View for LOC101927318 Gene

Genes around LOC101927318 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC101927318 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC101927318 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC101927318 Gene

Proteins for LOC101927318 Gene

Post-translational modifications for LOC101927318 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC101927318 Gene

Domains & Families for LOC101927318 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC101927318 Gene

Function for LOC101927318 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC101927318 Gene

Localization for LOC101927318 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC101927318 Gene

Pathways & Interactions for LOC101927318 Gene

SuperPathways for LOC101927318 Gene

No Data Available

Interacting Proteins for LOC101927318 Gene

Gene Ontology (GO) - Biological Process for LOC101927318 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC101927318 Gene

Drugs & Compounds for LOC101927318 Gene

No Compound Related Data Available

Transcripts for LOC101927318 Gene

mRNA/cDNA for LOC101927318 Gene

(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(5) RNA Central transcripts :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOC101927318 Gene

No ASD Table

Relevant External Links for LOC101927318 Gene

GeneLoc Exon Structure for
LOC101927318

Expression for LOC101927318 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC101927318 Gene

mRNA differential expression in normal tissues according to GTEx for LOC101927318 Gene

This gene is overexpressed in Kidney - Cortex (x33.3) and Minor Salivary Gland (x5.6).
genes like me logo Genes that share expression patterns with LOC101927318: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC101927318 Gene

Orthologs for LOC101927318 Gene

Evolution for LOC101927318 Gene

ENSEMBL:
Gene Tree for LOC101927318 (if available)
TreeFam:
Gene Tree for LOC101927318 (if available)

No data available for Orthologs for LOC101927318 Gene

Paralogs for LOC101927318 Gene

No data available for Paralogs for LOC101927318 Gene

Variants for LOC101927318 Gene

Sequence variations from dbSNP and Humsavar for LOC101927318 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1010441474 uncertain-significance, Nephrogenic diabetes insipidus 49,956,093(-) C/T genic_downstream_transcript_variant, intron_variant
rs104894326 pathogenic, likely-pathogenic, Diabetes insipidus, nephrogenic, autosomal recessive, not provided 49,951,020(-) G/A downstream_transcript_variant
rs104894328 pathogenic, Diabetes insipidus, nephrogenic, autosomal recessive, Nephrogenic diabetes insipidus 49,954,663(-) C/T genic_downstream_transcript_variant, intron_variant
rs104894329 pathogenic, Diabetes insipidus, nephrogenic, autosomal recessive 49,955,438(-) T/C genic_downstream_transcript_variant, intron_variant
rs104894330 pathogenic, Diabetes insipidus, nephrogenic, autosomal recessive 49,954,171(-) C/A/T genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC101927318 Gene

Variant ID Type Subtype PubMed ID
nsv832407 CNV loss 17160897
nsv558837 CNV loss 21841781
nsv558835 CNV gain 21841781
nsv523899 CNV loss 19592680
nsv522972 CNV gain 19592680
nsv476029 CNV novel sequence insertion 20440878
esv9348 CNV gain 19470904
esv27744 CNV loss 19812545
dgv2618n54 CNV loss 21841781

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC101927318 Gene

Disorders for LOC101927318 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC101927318 Gene - From: GeneCards

Disorder Aliases PubMed IDs
diffuse palmoplantar keratoderma, bothnian type
  • palmoplantar keratoderma, bothnian type
palmoplantar keratoderma, bothnian type
  • ppkb
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LOC101927318

genes like me logo Genes that share disorders with LOC101927318: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC101927318 Gene

Publications for LOC101927318 Gene

No publications were found for LOC101927318 Gene.

Products for LOC101927318 Gene

Sources for LOC101927318 Gene

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