Aliases for USH2A-AS1 Gene

Subcategory (RNA class) for USH2A-AS1 Gene

lncRNA

Aliases for USH2A-AS1 Gene

  • USH2A Antisense RNA 1 2 3

External Ids for USH2A-AS1 Gene

Summaries for USH2A-AS1 Gene

GeneCards Summary for USH2A-AS1 Gene

USH2A-AS1 (USH2A Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with USH2A-AS1 include Retinitis Pigmentosa 39 and Rare Genetic Deafness.

Additional gene information for USH2A-AS1 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 USH2A-AS1 Gene

Genomics for USH2A-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USH2A-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
GH01J216182 Enhancer 1.1 UCNEbase Ensembl ENCODE 0.4 -9.3 -9336 3.6 ATF7 FOXA1 TCF7L2 ATF2 GATA3 POLR2A JUND JUN GLIS1 SMARCA4 piR-55705-004 USH2A-AS1 USH2A KCTD3
GH01J216220 Promoter/Enhancer 0.9 ENCODE CraniofacialAtlas 0.3 +28.0 27955 1 CTCF FOXA1 ZNF143 RAD21 TRIM22 SMARCA5 RUNX3 ZNF444 ZNF217 SMC3 ENSG00000236292 MRPS18BP1 USH2A-AS1 piR-49713-003 USH2A KCTD3
GH01J216224 Enhancer 0.6 Ensembl 0.3 +31.0 30964 0.6 FOXA1 SOX13 FOXA2 JUND CUX1 GATA3 EGR1 FOS SOX5 ARID3A MRPS18BP1 ENSG00000236292 USH2A-AS1 piR-49713-003 USH2A KCTD3
GH01J216186 Enhancer 0.3 Ensembl 0.4 -7.0 -7036 0.6 SMARCA4 piR-55705-004 USH2A-AS1 USH2A KCTD3
GH01J216223 Enhancer 0.3 Ensembl 0.3 +30.2 30164 0.2 POLR2A MRPS18BP1 ENSG00000236292 USH2A-AS1 piR-49713-003 USH2A KCTD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USH2A-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for USH2A-AS1 Gene

Genomic Locations for USH2A-AS1 Gene
chr1:216,193,337-216,238,036
(GRCh38/hg38)
Size:
44,700 bases
Orientation:
Plus strand

Genomic View for USH2A-AS1 Gene

Genes around USH2A-AS1 on UCSC Golden Path with GeneCards custom track
USH2A-AS1 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
USH2A-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 USH2A-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USH2A-AS1 Gene

Proteins for USH2A-AS1 Gene

Post-translational modifications for USH2A-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for USH2A-AS1 Gene

Domains & Families for USH2A-AS1 Gene

Gene Families for USH2A-AS1 Gene

genes like me logo Genes that share domains with USH2A-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for USH2A-AS1 Gene

Function for USH2A-AS1 Gene

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 USH2A-AS1 Gene

Localization for USH2A-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 USH2A-AS1 Gene

Pathways & Interactions for USH2A-AS1 Gene

PathCards logo

SuperPathways for USH2A-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for USH2A-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for USH2A-AS1 Gene

Drugs & Compounds for USH2A-AS1 Gene

No Compound Related Data Available

Transcripts for USH2A-AS1 Gene

USH2A-AS1 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for USH2A-AS1 Gene

No ASD Table

Relevant External Links for USH2A-AS1 Gene

GeneLoc Exon Structure for
USH2A-AS1

No data available for mRNA/cDNA for USH2A-AS1 Gene

Expression for USH2A-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 USH2A-AS1 Gene

Orthologs for USH2A-AS1 Gene

No data available for Orthologs and Evolution for USH2A-AS1 Gene

Paralogs for USH2A-AS1 Gene

No data available for Paralogs for USH2A-AS1 Gene

Variants for USH2A-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USH2A-AS1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
636119 Likely Pathogenic: Retinitis pigmentosa 216,217,539(+) C/G MISSENSE_VARIANT
636120 Uncertain Significance: Retinitis pigmentosa 216,196,658(+) C/G MISSENSE_VARIANT
640289 Pathogenic: not provided 216,199,650(+) C/T NONSENSE
640716 Pathogenic: not provided 216,207,363(+) G/GAC FRAMESHIFT_VARIANT
653649 Pathogenic: not provided 216,217,539(+) CA/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for USH2A-AS1 Gene

Additional Variant Information for USH2A-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USH2A-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for USH2A-AS1 Gene

Disorders for USH2A-AS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for USH2A-AS1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 39
  • rp39
rare genetic deafness
  • rare genetic hearing loss
usher syndrome
  • retinitis pigmentosa-deafness syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with USH2A-AS1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for USH2A-AS1 Gene

Publications for USH2A-AS1 Gene

No publications were found for USH2A-AS1 Gene.

No data available for Mastermind for USH2A-AS1 Gene

Products for USH2A-AS1 Gene

Sources for USH2A-AS1 Gene