Aliases for DSG1-AS1 Gene

Data sources for DSG1-AS1 Gene:

Subcategory (RNA class) for DSG1-AS1 Gene

lncRNA

Aliases for DSG1-AS1 Gene

External Ids for DSG1-AS1 Gene

Summaries for DSG1-AS1 Gene

GeneCards Summary for DSG1-AS1 Gene

DSG1-AS1 (DSG1 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with DSG1-AS1 include Hypotrichosis 6 and Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige.

Additional gene information for DSG1-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 DSG1-AS1 Gene

Genomics for DSG1-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DSG1-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
GH18J031426 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 +0.1 84 0.1 DSG1-AS1 DSG3 ENSG00000207240 DSG4
GH18J031446 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 -24.5 -24522 9.4 EP300 STAT3 FOSL1 JUND NFE2 CEBPB PKNOX1 MAFK FOS PRDM10 DSG3 DSG1-AS1 DSG2 DSC3 ENSG00000266521
GH18J031485 Enhancer 1.4 VISTA Ensembl ENCODE dbSUPER 6.5 -61.7 -61743 6.5 BCL11A IKZF1 FOXA2 MAX TRIM22 EP300 PRDM1 FOSL1 JUND BHLHE40 ENSG00000266521 DSG1-AS1 DSG2 DSG3
GH18J031399 Enhancer 0.9 Ensembl ENCODE 9.1 +26.3 26252 3.5 FEZF1 KDM6A FOXA2 SMAD4 SAP130 RXRA RARA BCL6 JUND TBP RNU6-167P DSG1 DSC2 DSG1-AS1 ENSG00000207240 DSG4 DSG3
GH18J031427 Enhancer 0.6 Ensembl ENCODE dbSUPER 6 -2.2 -2185 2.7 ZNF512 DSG1-AS1 DSG3 DSG4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSG1-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for DSG1-AS1 Gene

Latest Assembly
chr18:31,327,574-31,427,026
(GRCh38/hg38)
Size:
99,453 bases
Orientation:
Minus strand

Previous Assembly
chr18:28,923,331-29,006,951
(GRCh37/hg19 by Entrez Gene)
Size:
83,621 bases
Orientation:
Minus strand

chr18:28,923,331-29,006,951
(GRCh37/hg19 by Ensembl)
Size:
83,621 bases
Orientation:
Minus strand

Genomic View for DSG1-AS1 Gene

Genes around DSG1-AS1 on UCSC Golden Path with GeneCards custom track
DSG1-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
DSG1-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 DSG1-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSG1-AS1 Gene

Proteins for DSG1-AS1 Gene

Post-translational modifications for DSG1-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DSG1-AS1 Gene

Domains & Families for DSG1-AS1 Gene

Gene Families for DSG1-AS1 Gene

genes like me logo Genes that share domains with DSG1-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DSG1-AS1 Gene

Function for DSG1-AS1 Gene

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 DSG1-AS1 Gene

Localization for DSG1-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 DSG1-AS1 Gene

Pathways & Interactions for DSG1-AS1 Gene

PathCards logo

SuperPathways for DSG1-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DSG1-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for DSG1-AS1 Gene

Drugs & Compounds for DSG1-AS1 Gene

No Compound Related Data Available

Transcripts for DSG1-AS1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for DSG1-AS1 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000004EF5B_9606 lncRNA 669 4

Ensembl: ENST00000581856 (view in UCSC) ,

LncBook: HSALNT0249596,

LNCipedia: DSG1-AS1:3,

NONCODE: NONHSAT058814.2,

URS0000602BF2_9606 lncRNA 588 4

Ensembl: ENST00000578477 (view in UCSC) ,

LncBook: HSALNT0249599,

LNCipedia: DSG1-AS1:1,

NONCODE: NONHSAT058817.2,

URS0000142E03_9606 lncRNA 472 4

Ensembl: ENST00000581452 (view in UCSC) ,

LncBook: HSALNT0249600,

LNCipedia: DSG1-AS1:4,

NONCODE: NONHSAT058818.2,

URS0000534891_9606 lncRNA 456 4

Ensembl: ENST00000578119 (view in UCSC) ,

LncBook: HSALNT0249598,

LNCipedia: DSG1-AS1:5,

NONCODE: NONHSAT058815.2,

URS000075C999_9606 lncRNA 734 3

RefSeq: NR_110788,

LncBook: HSALNT0249595,

LNCipedia: DSG1-AS1:2,

DSG1-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for DSG1-AS1 Gene

3 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for DSG1-AS1 Gene

No ASD Table

Relevant External Links for DSG1-AS1 Gene

GeneLoc Exon Structure for
DSG1-AS1

Expression for DSG1-AS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSG1-AS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSG1-AS1

genes like me logo Genes that share expression patterns with DSG1-AS1: 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 DSG1-AS1 Gene

Orthologs for DSG1-AS1 Gene

Evolution for DSG1-AS1 Gene

ENSEMBL:
Gene Tree for DSG1-AS1 (if available)
TreeFam:
Gene Tree for DSG1-AS1 (if available)

No data available for Orthologs for DSG1-AS1 Gene

Paralogs for DSG1-AS1 Gene

No data available for Paralogs for DSG1-AS1 Gene

Variants for DSG1-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSG1-AS1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
872393 Pathogenic: not provided 31,354,855(-) C/T
NM_001942.4(DSG1):c.2659C>T (p.Arg887Ter)
NONSENSE
889236 Uncertain Significance: Hypotrichosis 6 31,376,779(-) C/T
NM_177986.5(DSG4):c.-133C>T
FIVE_PRIME_UTR
889292 Uncertain Significance: Hypotrichosis 6 31,392,265(-) C/T
NM_177986.5(DSG4):c.930C>T (p.Leu310=)
SYNONYMOUS
889353 Uncertain Significance: Hypotrichosis 6 31,406,385(-) A/G
NM_177986.5(DSG4):c.1933+12A>G
INTRON
889354 Uncertain Significance: Hypotrichosis 6 31,409,775(-) G/A
NM_177986.5(DSG4):c.2104G>A (p.Ala702Thr)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSG1-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 DSG1-AS1 Gene

Variant ID Type Subtype PubMed ID
dgv3328n100 CNV gain 25217958
dgv5882n54 CNV gain 21841781
dgv611e214 CNV loss 21293372
dgv975e212 CNV gain 25503493
dgv976e212 CNV loss 25503493
esv1389645 CNV insertion 17803354
esv2661620 CNV deletion 23128226
esv26807 CNV loss 19812545
esv2751776 CNV gain 17911159
esv3303313 CNV mobile element insertion 20981092
esv3308534 CNV mobile element insertion 20981092
esv3374183 CNV insertion 20981092
esv3441653 CNV insertion 20981092
esv3642125 CNV loss 21293372
esv3642126 CNV loss 21293372
esv3893085 CNV loss 25118596
esv991672 CNV insertion 20482838
nsv458045 CNV gain 19166990
nsv521618 CNV loss 19592680
nsv524890 CNV gain 19592680
nsv952697 CNV duplication 24416366
nsv953528 CNV duplication 24416366

Additional Variant Information for DSG1-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSG1-AS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DSG1-AS1 Gene

Disorders for DSG1-AS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DSG1-AS1 Gene - From: CVR and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DSG1-AS1

genes like me logo Genes that share disorders with DSG1-AS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSG1-AS1 Gene

Publications for DSG1-AS1 Gene

  1. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. (PMID: 23974871) Samuelov L … Sprecher E (Nature genetics 2013) 74
  2. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (PMID: 17392831) Wajid M … Christiano AM (The Journal of investigative dermatology 2007) 74
  3. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (PMID: 16543896) Schaffer JV … Christiano AM (The Journal of investigative dermatology 2006) 74
  4. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (PMID: 16575393) Zlotogorski A … Pras E (The Journal of investigative dermatology 2006) 74
  5. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (PMID: 16439973) Shimomura Y … Ito M (The Journal of investigative dermatology 2006) 74

Products for DSG1-AS1 Gene

Sources for DSG1-AS1 Gene