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Aliases for COL1A2-AS1 Gene

Subcategory (RNA class) for COL1A2-AS1 Gene

non-coding RNA

Quality Score for this RNA gene is

13

Aliases for COL1A2-AS1 Gene

  • COL1A2 Antisense RNA 1 2 3
  • TCONS_00013888 3
  • LncRNA8975-1 3
  • AC002074.1 5

External Ids for COL1A2-AS1 Gene

Summaries for COL1A2-AS1 Gene

GeneCards Summary for COL1A2-AS1 Gene

COL1A2-AS1 (COL1A2 Antisense RNA 1) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with COL1A2-AS1 include Ehlers-Danlos Syndrome, Classic Type and Osteogenesis Imperfecta, Type I.

Additional gene information for COL1A2-AS1 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 COL1A2-AS1 Gene

Genomics for COL1A2-AS1 Gene

GeneHancer (GH) Regulatory Elements for COL1A2-AS1 Gene

Promoters and enhancers for COL1A2-AS1 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
GH07J094389 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.7 +2.5 2470 12.4 ATF1 ARNT SIN3A RAD21 YY1 ARID2 EGR1 ZNF143 CREM ZNF654 COL1A2 COL1A2-AS1 GC07M094231 GC07P094389 GC07P094390
GH07J094366 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 0.3 +29.1 29096 4 JUND POLR2A RCOR1 CHD2 ZBTB20 COL1A2 SGCE GNG11 GC07M094231 GC07P094390 COL1A2-AS1 GC07P094145
GH07J094381 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.4 +15.2 15188 1.2 JUND FOSL2 GC07P094390 GC07M094231 COL1A2-AS1 GC07P094145
GH07J094402 Enhancer 0.8 ENCODE dbSUPER 0.4 -17.6 -17597 26.5 ZEB2 PRDM6 JUND POLR2A SCRT2 FOS RCOR1 MAFK CHD2 COL1A2 RNU6-1328P CASD1 GC07P094427 GC07P094428 COL1A2-AS1 GC07P094390
GH07J094295 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.2 +97.5 97455 9.6 ZSCAN4 NFXL1 ZNF48 RAD21 RARA YY1 ZNF207 ZFP91 FOS MIXL1 COL1A2 SGCE GC07M094231 GC07P094390 COL1A2-AS1 GC07P094145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL1A2-AS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COL1A2-AS1 Gene

Genomic Locations for COL1A2-AS1 Gene
chr7:94,277,389-94,397,735
(GRCh38/hg38)
Size:
120,347 bases
Orientation:
Minus strand

Genomic View for COL1A2-AS1 Gene

Genes around COL1A2-AS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL1A2-AS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL1A2-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL1A2-AS1 Gene

Proteins for COL1A2-AS1 Gene

Post-translational modifications for COL1A2-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for COL1A2-AS1 Gene

Domains & Families for COL1A2-AS1 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 COL1A2-AS1 Gene

Function for COL1A2-AS1 Gene

Phenotypes From GWAS Catalog for COL1A2-AS1 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 COL1A2-AS1 Gene

Localization for COL1A2-AS1 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 COL1A2-AS1 Gene

Pathways & Interactions for COL1A2-AS1 Gene

SuperPathways for COL1A2-AS1 Gene

No Data Available

Interacting Proteins for COL1A2-AS1 Gene

Gene Ontology (GO) - Biological Process for COL1A2-AS1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for COL1A2-AS1 Gene

Drugs & Compounds for COL1A2-AS1 Gene

No Compound Related Data Available

Transcripts for COL1A2-AS1 Gene

mRNA/cDNA for COL1A2-AS1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for COL1A2-AS1 Gene

No ASD Table

Relevant External Links for COL1A2-AS1 Gene

GeneLoc Exon Structure for
COL1A2-AS1
ECgene alternative splicing isoforms for
COL1A2-AS1

Expression for COL1A2-AS1 Gene

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 COL1A2-AS1 Gene

Orthologs for COL1A2-AS1 Gene

Evolution for COL1A2-AS1 Gene

ENSEMBL:
Gene Tree for COL1A2-AS1 (if available)
TreeFam:
Gene Tree for COL1A2-AS1 (if available)

No data available for Orthologs for COL1A2-AS1 Gene

Paralogs for COL1A2-AS1 Gene

No data available for Paralogs for COL1A2-AS1 Gene

Variants for COL1A2-AS1 Gene

Sequence variations from dbSNP and Humsavar for COL1A2-AS1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs190926256 likely-benign, Osteogenesis Imperfecta, Dominant, Ehlers-Danlos syndrome, procollagen proteinase deficient 94,394,745(-) C/T genic_upstream_transcript_variant, intron_variant
rs200278401 benign, Ehlers-Danlos syndrome, classic type, Osteogenesis imperfecta type I 94,395,083(-) T/C/G genic_upstream_transcript_variant, intron_variant
rs72656354 pathogenic, Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form 94,395,818(-) A/G upstream_transcript_variant
rs753974789 uncertain-significance, Ehlers-Danlos syndrome, procollagen proteinase deficient, Osteogenesis Imperfecta, Dominant 94,394,604(-) G/A genic_upstream_transcript_variant, intron_variant
rs763546006 uncertain-significance, Osteogenesis Imperfecta, Dominant, Ehlers-Danlos syndrome, procollagen proteinase deficient 94,397,748(-) C/G/T upstream_transcript_variant

Additional Variant Information for COL1A2-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL1A2-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for COL1A2-AS1 Gene

Disorders for COL1A2-AS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COL1A2-AS1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, classic type
  • eds, classic type
osteogenesis imperfecta, type i
  • oi1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL1A2-AS1

genes like me logo Genes that share disorders with COL1A2-AS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL1A2-AS1 Gene

Publications for COL1A2-AS1 Gene

  1. The Long Non-Coding RNA LncRNA8975-1 is Upregulated in Hypertrophic Scar Fibroblasts and Controls Collagen Expression. (PMID: 27866191) Li J … Li J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2016) 2 3 58
  2. LncRNA COL1A2-AS1 inhibits the scar fibroblasts proliferation via regulating miR-21/Smad7 pathway. (PMID: 29117538) Nong Q … Liu D (Biochemical and biophysical research communications 2018) 3 58
  3. Genome-wide association study of intelligence: additive effects of novel brain expressed genes. (PMID: 22449649) Loo SK … Nelson SF (Journal of the American Academy of Child and Adolescent Psychiatry 2012) 3 58
  4. 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 58

Products for COL1A2-AS1 Gene

Sources for COL1A2-AS1 Gene

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