Aliases for CDH23-AS1 Gene

Data sources for CDH23-AS1 Gene:

RNA type for CDH23-AS1 Gene

lncRNA

Aliases for CDH23-AS1 Gene

External Ids for CDH23-AS1 Gene

Previous HGNC Symbols for CDH23-AS1 Gene

  • C10orf106
  • NCRNA00223

Previous GeneCards Identifiers for CDH23-AS1 Gene

  • GC10U901556
  • GC10M073269

Summaries for CDH23-AS1 Gene

GeneCards Summary for CDH23-AS1 Gene

CDH23-AS1 (CDH23 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with CDH23-AS1 include Usher Syndrome, Type Id and Deafness, Autosomal Recessive 12.

Additional gene information for CDH23-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 CDH23-AS1 Gene

Genomics for CDH23-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDH23-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
GH10J071513 Enhancer 0.8 Ensembl ENCODE 258.6 -1.5 -1481 2.4 NFIC ZNF217 PKNOX1 DPF2 NFIB GLIS1 ZFP36 ZMYM3 GATA2 HLF CDH23-AS1 CDH23 RF00017-619 C10orf105
GH10J071632 Enhancer 1.4 ENCODE CraniofacialAtlas dbSUPER 10.9 -124.7 -124658 7.5 MYC NCOR1 IKZF1 ZNF600 ZMYM3 CEBPA ZNF223 ATF3 ZIC2 CHD4 DNAJB12 CDH23 SLC29A3 CDH23-AS1 VSIR PSAP SGPL1 piR-57460-061 AB372778-006 C10orf105
GH10J071486 Enhancer 0.8 Ensembl ENCODE 18.9 +24.5 24519 2 ZNF654 ZIC2 REST TRIM22 CTCF SIN3A SMC3 RAD21 ZNF143 GLIS1 CDH23-AS1 CDH23 lnc-C10orf105-6 LOC105378356 C10orf105
GH10J071265 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 10.2 +243.9 243906 5.6 MYC ZNF600 ZNF580 ZNF592 ATF2 CEBPA ZNF10 ATF3 ZSCAN16 NFIC UNC5B UNC5B-AS1 SLC29A3 CDH23-AS1 CDH23 PCBD1 piR-41736 LOC112268061
GH10J071647 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 -137.0 -137002 3 NCOR1 IKZF1 ZNF592 ZIC2 CTCF REST ARNT TEAD3 SKIL PTBP1 VSIR CDH23-AS1 SLC29A3 PSAP piR-57460-061 lnc-C10orf105-3 C10orf105 CDH23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH23-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for CDH23-AS1 Gene

Latest Assembly
chr10:71,508,152-71,511,920
(GRCh38/hg38)
Size:
3,769 bases
Orientation:
Minus strand

Previous Assembly
chr10:73,267,910-73,271,677
(GRCh37/hg19 by Entrez Gene)
Size:
3,768 bases
Orientation:
Minus strand

chr10:73,267,910-73,271,630
(GRCh37/hg19 by Ensembl)
Size:
3,721 bases
Orientation:
Minus strand

Genomic View for CDH23-AS1 Gene

Genes around CDH23-AS1 on UCSC Golden Path with GeneCards custom track
CDH23-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
CDH23-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 CDH23-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH23-AS1 Gene

Proteins for CDH23-AS1 Gene

Post-translational modifications for CDH23-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CDH23-AS1 Gene

Domains & Families for CDH23-AS1 Gene

Gene Families for CDH23-AS1 Gene

genes like me logo Genes that share domains with CDH23-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CDH23-AS1 Gene

Function for CDH23-AS1 Gene

Phenotypes From GWAS Catalog for CDH23-AS1 Gene

CRISPR products for research

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 CDH23-AS1 Gene

Localization for CDH23-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 CDH23-AS1 Gene

Pathways & Interactions for CDH23-AS1 Gene

PathCards logo

SuperPathways for CDH23-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDH23-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for CDH23-AS1 Gene

Drugs & Compounds for CDH23-AS1 Gene

No Compound Related Data Available

Transcripts for CDH23-AS1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for CDH23-AS1 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS0000352971_9606 lncRNA 381 4

Ensembl: ENST00000428918 (view in UCSC) ,

LncBook: HSALNT0164144,

LNCipedia: CDH23-AS1:2,

NONCODE: NONHSAT013898.2,

URS000075E11A_9606 lncRNA 428 3

RefSeq: NR_120672,

LncBook: HSALNT0164143,

LNCipedia: CDH23-AS1:1,

URS00009B89F9_9606 lncRNA 378 2

LncBook: HSALNT0164142,

NONCODE: NONHSAT157132.1,

URS0001BCBBC3_9606 lncRNA 425 1

LncBook: HSALNT0164143,

URS0001BE7569_9606 lncRNA 378 1

LncBook: HSALNT0164144,

CDH23-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for CDH23-AS1 Gene

1 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for CDH23-AS1 Gene

No ASD Table

Relevant External Links for CDH23-AS1 Gene

GeneLoc Exon Structure for
CDH23-AS1

Expression for CDH23-AS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH23-AS1 Gene

mRNA differential expression in normal tissues according to GTEx for CDH23-AS1 Gene

This gene is overexpressed in Testis (x53.0).
genes like me logo Genes that share expression patterns with CDH23-AS1: 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 CDH23-AS1 Gene

Orthologs for CDH23-AS1 Gene

Evolution for CDH23-AS1 Gene

ENSEMBL:
Gene Tree for CDH23-AS1 (if available)
TreeFam:
Gene Tree for CDH23-AS1 (if available)
Alliance of Genome Resources:
Additional Orthologs for CDH23-AS1

No data available for Orthologs for CDH23-AS1 Gene

Paralogs for CDH23-AS1 Gene

No data available for Paralogs for CDH23-AS1 Gene

Variants for CDH23-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH23-AS1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1021781 Uncertain Significance: not provided 71,510,170(-) T/G
NM_022124.6(CDH23):c.234T>G (p.Phe78Leu)
MISSENSE
1027560 Pathogenic: Usher syndrome type 1D; Deafness, autosomal recessive 12 71,510,207(-) C/T
NM_022124.6(CDH23):c.271C>T (p.Gln91Ter)
NONSENSE
1029847 Uncertain Significance: Deafness, autosomal recessive 12 71,511,154(-) A/G
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly)
MISSENSE
841267 Uncertain Significance: Usher syndrome type 1; not provided 71,510,192(-) G/A
NM_022124.6(CDH23):c.256G>A (p.Val86Met)
MISSENSE
867202 Likely Pathogenic: Retinal dystrophy 71,511,002(-) G/T
NM_022124.6(CDH23):c.336+1G>T
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDH23-AS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDH23-AS1 Gene

Variant ID Type Subtype PubMed ID
esv2759766 CNV loss 17122850
nsv1044971 CNV gain 25217958
nsv523021 CNV gain 19592680
nsv551502 CNV gain 21841781

Additional Variant Information for CDH23-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH23-AS1
Leiden Open Variation Database (LOVD)
CDH23-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CDH23-AS1 Gene

Disorders for CDH23-AS1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CDH23-AS1 Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
usher syndrome, type id
  • ush1d
deafness, autosomal recessive 12
  • dfnb12
usher syndrome, type i
  • ush1
usher syndrome
  • deafness-retinitis pigmentosa syndrome
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDH23-AS1

genes like me logo Genes that share disorders with CDH23-AS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH23-AS1 Gene

Publications for CDH23-AS1 Gene

  1. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. (PMID: 30718709) Jespersgaard C … Grønskov K (Scientific reports 2019) 72
  2. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. (PMID: 15537665) Zheng QY … Liu XZ (Human molecular genetics 2005) 72
  3. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. (PMID: 12075507) Astuto LM … Kimberling WJ (American journal of human genetics 2002) 72

Products for CDH23-AS1 Gene

Sources for CDH23-AS1 Gene