Aliases for LOC100505549 Gene

Subcategory (RNA class) for LOC100505549 Gene

lncRNA

Number of RNA Genes sources:

1 / 17

Aliases for LOC100505549 Gene

  • Uncharacterized LOC100505549 3

External Ids for LOC100505549 Gene

Previous GeneCards Identifiers for LOC100505549 Gene

  • GC18P055297

Summaries for LOC100505549 Gene

GeneCards Summary for LOC100505549 Gene

LOC100505549 (Uncharacterized LOC100505549) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with LOC100505549 include Familial Intrahepatic Cholestasis and Cholestasis, Progressive Familial Intrahepatic, 1.

Additional gene information for LOC100505549 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 LOC100505549 Gene

Genomics for LOC100505549 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOC100505549 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC100505549 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LOC100505549

Genomic Locations for LOC100505549 Gene

Genomic Locations for LOC100505549 Gene
chr18:57,630,331-57,669,283
(GRCh38/hg38)
Size:
38,953 bases
Orientation:
Plus strand
chr18:55,297,534-55,336,508
(GRCh37/hg19)
Size:
38,975 bases
Orientation:
Plus strand

Genomic View for LOC100505549 Gene

Genes around LOC100505549 on UCSC Golden Path with GeneCards custom track
LOC100505549 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
LOC100505549 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100505549 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100505549 Gene

Proteins for LOC100505549 Gene

Post-translational modifications for LOC100505549 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100505549 Gene

Domains & Families for LOC100505549 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100505549 Gene

Function for LOC100505549 Gene

Phenotypes From GWAS Catalog for LOC100505549 Gene

Animal Model Products

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 LOC100505549 Gene

Localization for LOC100505549 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 LOC100505549 Gene

Pathways & Interactions for LOC100505549 Gene

PathCards logo

SuperPathways for LOC100505549 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC100505549 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC100505549 Gene

Drugs & Compounds for LOC100505549 Gene

No Compound Related Data Available

Transcripts for LOC100505549 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100505549 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS0000EEACA1_9606 lncRNA 1960 1

RefSeq: NR_164148,

URS00019FF371_9606 lncRNA 2658 1

ENA: MN297537.1:1..2658:ncRNA,

URS0001A15FED_9606 lncRNA 2124 1

ENA: MN297536.1:1..2124:ncRNA,

LOC100505549 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for LOC100505549 Gene

5 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100505549 Gene

No ASD Table

Relevant External Links for LOC100505549 Gene

GeneLoc Exon Structure for
LOC100505549

Expression for LOC100505549 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100505549

SOURCE GeneReport for Unigene cluster for LOC100505549 Gene:

Hs.660645
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 LOC100505549 Gene

Orthologs for LOC100505549 Gene

No data available for Orthologs and Evolution for LOC100505549 Gene

Paralogs for LOC100505549 Gene

No data available for Paralogs for LOC100505549 Gene

Variants for LOC100505549 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100505549 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
671637 Likely Benign: not provided 57,655,404(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
682118 Likely Benign: not provided 57,655,209(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
694736 Uncertain Significance: Intrahepatic cholestasis with episodic jaundice; Cholestasis, progressive familial intrahepatic 1 57,667,095(+) A/T MISSENSE_VARIANT
7270 Pathogenic: Cholestasis, benign recurrent intrahepatic 1 57,654,078(+) G/T INTRON_VARIANT
745906 Likely Benign: not provided 57,650,388(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LOC100505549 Gene

Structural Variations from Database of Genomic Variants (DGV) for LOC100505549 Gene

Variant ID Type Subtype PubMed ID
esv1027456 CNV insertion 17803354
esv1228761 CNV insertion 17803354
esv2751777 CNV gain 17911159
esv3384921 CNV duplication 20981092
nsv131427 CNV deletion 16902084
nsv2319 CNV insertion 18451855
nsv458086 CNV gain 19166990
nsv458087 CNV loss 19166990
nsv577032 CNV gain 21841781
nsv577033 CNV loss 21841781
nsv833663 CNV gain 17160897

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100505549 Gene

Disorders for LOC100505549 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LOC100505549 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC100505549: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100505549 Gene

Publications for LOC100505549 Gene

  1. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3
  2. 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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for LOC100505549 Gene

Sources for LOC100505549 Gene