Aliases for LOC101927318 Gene

Subcategory (RNA class) for LOC101927318 Gene

lncRNA

Number of RNA Genes sources:

3 / 14

Aliases for LOC101927318 Gene

  • Uncharacterized LOC101927318 3
  • Novel Transcript, Antisense To AQP5 5
  • Lnc-RACGAP1-1 168
  • NONHSAG011120 92
  • HSALNG0090989 167
  • 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 lncRNA class. Diseases associated with LOC101927318 include Palmoplantar Keratoderma, Bothnian Type and Diffuse Palmoplantar Keratoderma.

Additional gene information for LOC101927318 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH12J049962 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 500.7 -0.4 -421 1.7 TCF12 JUND EP300 CTBP1 FOXA2 EZH2 DEK NFIC ZNF592 FOS AQP5 LOC101927318 AQP6 lnc-RACGAP1-3
GH12J049961 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 500.7 +1.1 1123 0.8 USF1 GABPA EZH2 USF2 SUZ12 AQP5 LOC101927318
GH12J049966 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 0.7 -4.2 -4177 2.2 ZNF217 CTCF USF1 ZNF639 ZIC2 ZBTB10 ZNF263 ZNF423 GABPA AFF1 AQP6 lnc-RACGAP1-3 LOC100422296 PRPF40B ENSG00000257298 ENSG00000257964 PRPH LIMA1 CERS5 LOC101927318
GH12J049959 Enhancer 0.9 ENCODE dbSUPER 0.7 +3.0 3020 1.5 EP300 TRIM25 MCM3 POLR2A BCL11A ZBTB17 ZNF263 GABPA SMARCC1 CHD2 AQP5 LIMA1 KMT2D LMBR1L ATF1 SMARCD1 ENSG00000257378 LOC101927318
GH12J049950 Promoter 0.9 EPDnew Ensembl 0.4 +12.0 12023 1 VEZF1 GATA1 GATA2 RFX1 AQP2 AQP5 ENSG00000257378 LOC101927318
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC101927318 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC101927318 Gene

Genomic Locations for LOC101927318 Gene
chr12:49,949,963-49,962,924
(GRCh38/hg38)
Size:
12,962 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

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

Function for LOC101927318 Gene

Phenotypes From GWAS Catalog for LOC101927318 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

PathCards logo

SuperPathways for LOC101927318 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC101927318 Gene

None

No data available for Pathways by source , Interacting Proteins 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

13 RNACentral transcripts :
3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
2 NONCODE transcripts :
2 LncBook transcripts :
13 LNCipedia transcripts :

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 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC101927318

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC101927318 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
718766 Likely Benign: not provided 49,954,683(-) C/T SYNONYMOUS_VARIANT
720478 Likely Benign: not provided 49,954,662(-) C/A SYNONYMOUS_VARIANT
724199 Benign: not provided 49,955,494(-) G/A SYNONYMOUS_VARIANT
731677 Benign: not provided 49,962,386(-) T/G INTRON_VARIANT
733151 Likely Benign: not provided 49,954,253(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LOC101927318 Gene

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

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

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

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

Disorder Aliases PubMed IDs
palmoplantar keratoderma, bothnian type
  • ppkb
diffuse palmoplantar keratoderma
  • diffuse ppk
diabetes insipidus, nephrogenic, autosomal
  • diabetes insipidus, nephrogenic, type ii
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC101927318: view

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

Publications for LOC101927318 Gene

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54
  2. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh JH … Kim NS (Mammalian genome : official journal of the International Mammalian Genome Society 2005) 3 54
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 54

No data available for Mastermind for LOC101927318 Gene

Products for LOC101927318 Gene

Sources for LOC101927318 Gene