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Aliases for LOC100129434 Gene

Subcategory (RNA class) for LOC100129434 Gene

ncRNA

Quality Score for this RNA gene is

13

Aliases for LOC100129434 Gene

  • Uncharacterized LOC100129434 3
  • AC007743.1 5

External Ids for LOC100129434 Gene

Previous GeneCards Identifiers for LOC100129434 Gene

  • GC02U901379
  • GC02M056254
  • GC02M056400

Summaries for LOC100129434 Gene

GeneCards Summary for LOC100129434 Gene

LOC100129434 (Uncharacterized LOC100129434) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with LOC100129434 include Hereditary Hemorrhagic Telangiectasia.

Additional gene information for LOC100129434 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 LOC100129434 Gene

Genomics for LOC100129434 Gene

GeneHancer (GH) Regulatory Elements for LOC100129434 Gene

Promoters and enhancers for LOC100129434 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
GH02J056183 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 660.6 +1.1 1069 2.2 ARID4B SIN3A ZNF2 GLIS2 ZNF143 ATF7 KLF13 SP3 REST NFIL3 LOC100129434 CCDC85A ENSG00000271894
GH02J056229 Enhancer 0.8 ENCODE 17 -44.4 -44449 1.4 JUN INSM2 EBF1 FEZF1 RFX5 HIC1 ZNF366 ZBTB48 FOS ZNF639 CCDC85A LOC100129434 RNA5SP93 GC02M056236 ENSG00000271894
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOC100129434 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LOC100129434 gene promoter:
  • S8
  • POU2F1a
  • POU2F1
  • Sox5
  • c-Myb
  • C/EBPalpha
  • FOXF2
  • NRSF form 1
  • NRSF form 2
  • NF-kappaB

Genomic Locations for LOC100129434 Gene

Genomic Locations for LOC100129434 Gene
chr2:56,173,534-56,185,770
(GRCh38/hg38)
Size:
12,237 bases
Orientation:
Minus strand
chr2:56,400,669-56,412,905
(GRCh37/hg19)
Size:
12,237 bases
Orientation:
Minus strand

Genomic View for LOC100129434 Gene

Genes around LOC100129434 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC100129434 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100129434 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100129434 Gene

Proteins for LOC100129434 Gene

Post-translational modifications for LOC100129434 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100129434 Gene

Domains & Families for LOC100129434 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 LOC100129434 Gene

Function for LOC100129434 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 LOC100129434 Gene

Localization for LOC100129434 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 LOC100129434 Gene

Pathways & Interactions for LOC100129434 Gene

SuperPathways for LOC100129434 Gene

No Data Available

Interacting Proteins for LOC100129434 Gene

Gene Ontology (GO) - Biological Process for LOC100129434 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC100129434 Gene

Drugs & Compounds for LOC100129434 Gene

No Compound Related Data Available

Transcripts for LOC100129434 Gene

mRNA/cDNA for LOC100129434 Gene

(6) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(4) RNA Central transcripts :

Unigene Clusters for LOC100129434 Gene

Uncharacterized LOC100129434:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100129434 Gene

No ASD Table

Relevant External Links for LOC100129434 Gene

GeneLoc Exon Structure for
LOC100129434

Expression for LOC100129434 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC100129434 Gene

SOURCE GeneReport for Unigene cluster for LOC100129434 Gene:

Hs.580330
genes like me logo Genes that share expression patterns with LOC100129434: view

No data available for 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 LOC100129434 Gene

Orthologs for LOC100129434 Gene

Evolution for LOC100129434 Gene

ENSEMBL:
Gene Tree for LOC100129434 (if available)
TreeFam:
Gene Tree for LOC100129434 (if available)

No data available for Orthologs for LOC100129434 Gene

Paralogs for LOC100129434 Gene

No data available for Paralogs for LOC100129434 Gene

Variants for LOC100129434 Gene

Sequence variations from dbSNP and Humsavar for LOC100129434 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000352196 -- 56,174,970(-) A/G non_coding_transcript_variant
rs1000718912 -- 56,184,670(-) G/A intron_variant
rs1000783003 -- 56,177,364(-) G/C intron_variant
rs1000891049 -- 56,177,644(-) A/G non_coding_transcript_variant
rs1000966360 -- 56,179,386(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC100129434 Gene

Variant ID Type Subtype PubMed ID
esv3892459 CNV loss 25118596
esv3575244 CNV gain 25503493
esv2762648 CNV gain 21179565
esv2759051 CNV gain 17122850

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100129434 Gene

Disorders for LOC100129434 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC100129434 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hereditary hemorrhagic telangiectasia
  • hht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LOC100129434

genes like me logo Genes that share disorders with LOC100129434: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC100129434 Gene

Publications for LOC100129434 Gene

  1. Common genetic variation and the control of HIV-1 in humans. (PMID: 20041166) Fellay J … NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI) (PLoS genetics 2009) 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for LOC100129434 Gene

Sources for LOC100129434 Gene

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