Aliases for ASIC4-AS1 Gene

Data sources for ASIC4-AS1 Gene:

RNA type for ASIC4-AS1 Gene

lncRNA

Aliases for ASIC4-AS1 Gene

External Ids for ASIC4-AS1 Gene

Summaries for ASIC4-AS1 Gene

GeneCards Summary for ASIC4-AS1 Gene

ASIC4-AS1 (ASIC4 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with ASIC4-AS1 include Myopathy, Centronuclear, 5 and Gastroesophageal Reflux.

Additional gene information for ASIC4-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 ASIC4-AS1 Gene

Genomics for ASIC4-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASIC4-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
GH02J219517 Enhancer 0.3 Ensembl 250.7 +0.0 28 0.2 IKZF1 ASIC4-AS1 ASIC4 TMEM198
GH02J219457 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12 +57.3 57282 4.5 IKZF1 ZNF592 ZIC2 CTCF REST SIN3A THAP11 RAD21 SMC3 ETV4 SPEG GMPPA ASIC4 ASIC4-AS1 DES OBSL1 PTPRN lnc-DES-2 HSALNG0022382 ENSG00000286143
GH02J219438 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +74.2 74201 10.3 ZNF600 ZNF223 ZIC2 ZBTB10 ZNF341 ZNF623 ZNF433 CTCF ZNF189 ZNF8 STK36 CNOT9 ASIC4 GMPPA DES ASIC4-AS1 RNF25 BCS1L STK11IP ZNF142
GH02J219450 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +64.4 64445 4.5 ZNF600 JUND ZNF592 MAX NFE2 MAFK ATF4 GLIS1 ZNF398 SP7 GMPPA ASIC4 ASIC4-AS1 DES PTPRN lnc-DES-2 SPEG ENSG00000286143 HSALNG0022382
GH02J219415 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 11.1 +96.8 96831 9.8 ZNF592 NFIC TAL1 YY1 CTCF MYC MAX HDAC2 EGR1 ZBTB33 DES HSALNG0022378 NONHSAG030583.2 DNPEP CNOT9 ASIC4 ASIC4-AS1 STK36 GLB1L HSALNG0022377-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASIC4-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for ASIC4-AS1 Gene

Latest Assembly
chr2:219,481,647-219,517,129
(GRCh38/hg38)
Size:
35,483 bases
Orientation:
Minus strand

Previous Assembly
chr2:220,346,795-220,381,599
(GRCh37/hg19 by Ensembl)
Size:
34,805 bases
Orientation:
Minus strand

Genomic View for ASIC4-AS1 Gene

Genes around ASIC4-AS1 on UCSC Golden Path with GeneCards custom track
ASIC4-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
ASIC4-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 ASIC4-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASIC4-AS1 Gene

Proteins for ASIC4-AS1 Gene

Post-translational modifications for ASIC4-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ASIC4-AS1 Gene

Domains & Families for ASIC4-AS1 Gene

Gene Families for ASIC4-AS1 Gene

genes like me logo Genes that share domains with ASIC4-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASIC4-AS1 Gene

Function for ASIC4-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 ASIC4-AS1 Gene

Localization for ASIC4-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 ASIC4-AS1 Gene

Pathways & Interactions for ASIC4-AS1 Gene

PathCards logo

SuperPathways for ASIC4-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASIC4-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for ASIC4-AS1 Gene

Drugs & Compounds for ASIC4-AS1 Gene

No Compound Related Data Available

Transcripts for ASIC4-AS1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for ASIC4-AS1 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00005249AE_9606 lncRNA 519 3

Ensembl: ENST00000429882 (view in UCSC) ,

LNCipedia: lnc-CHPF-1:1,

NONCODE: NONHSAT077042.2,

URS0000EB00E0_9606 lncRNA 881 1

LncBook: HSALNT0047507,

URS0001BD94A8_9606 lncRNA 781 1

LncBook: HSALNT0047502,

URS00009B51DF_9606 lncRNA 519 1

NONCODE: NONHSAT186331.1,

ASIC4-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for ASIC4-AS1 Gene

No ASD Table

Relevant External Links for ASIC4-AS1 Gene

GeneLoc Exon Structure for
ASIC4-AS1

No data available for mRNA/cDNA for ASIC4-AS1 Gene

Expression for ASIC4-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 ASIC4-AS1 Gene

Orthologs for ASIC4-AS1 Gene

Evolution for ASIC4-AS1 Gene

ENSEMBL:
Gene Tree for ASIC4-AS1 (if available)
TreeFam:
Gene Tree for ASIC4-AS1 (if available)
Alliance of Genome Resources:
Additional Orthologs for ASIC4-AS1

No data available for Orthologs for ASIC4-AS1 Gene

Paralogs for ASIC4-AS1 Gene

No data available for Paralogs for ASIC4-AS1 Gene

Variants for ASIC4-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASIC4-AS1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1007274 Uncertain Significance: Alacrima, achalasia, and mental retardation syndrome 219,505,501(-) G/A
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)
MISSENSE
1024634 Uncertain Significance: Alacrima, achalasia, and mental retardation syndrome 219,506,410(-) A/G
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)
MISSENSE
1027960 Pathogenic: Alacrima, achalasia, and mental retardation syndrome 219,506,703(-) C/T
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)
NONSENSE
1028953 Uncertain Significance: Myopathy, centronuclear, 5 219,483,206(-) A/C
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg)
MISSENSE
1028954 Uncertain Significance: Myopathy, centronuclear, 5 219,483,360(-) G/C
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASIC4-AS1 Gene

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

Additional Variant Information for ASIC4-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASIC4-AS1
Leiden Open Variation Database (LOVD)
ASIC4-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for ASIC4-AS1 Gene

Disorders for ASIC4-AS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ASIC4-AS1 Gene - From: CVR and GCD

genes like me logo Genes that share disorders with ASIC4-AS1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for ASIC4-AS1 Gene

Publications for ASIC4-AS1 Gene

  1. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. (PMID: 25087613) Agrawal PB … Beggs AH (American journal of human genetics 2014) 72
  2. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. (PMID: 24035193) Koehler K … Hübner CA (American journal of human genetics 2013) 72

No data available for Mastermind for ASIC4-AS1 Gene

Products for ASIC4-AS1 Gene

Sources for ASIC4-AS1 Gene