Aliases for RNF213-AS1 Gene

Data sources for RNF213-AS1 Gene:

RNA type for RNF213-AS1 Gene

lncRNA

Aliases for RNF213-AS1 Gene

External Ids for RNF213-AS1 Gene

Summaries for RNF213-AS1 Gene

GeneCards Summary for RNF213-AS1 Gene

RNF213-AS1 (RNF213 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with RNF213-AS1 include Moyamoya Disease 2 and Moyamoya Disease 1.

Additional gene information for RNF213-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 RNF213-AS1 Gene

Genomics for RNF213-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNF213-AS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF213-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for RNF213-AS1 Gene

Latest Assembly
chr17:80,335,569-80,415,411
(GRCh38/hg38)
Size:
79,843 bases
Orientation:
Minus strand

Previous Assembly
chr17:78,325,630-78,388,968
(GRCh37/hg19 by Entrez Gene)
Size:
63,339 bases
Orientation:
Minus strand

chr17:78,325,628-78,388,968
(GRCh37/hg19 by Ensembl)
Size:
63,341 bases
Orientation:
Minus strand

Genomic View for RNF213-AS1 Gene

Genes around RNF213-AS1 on UCSC Golden Path with GeneCards custom track
RNF213-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
RNF213-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 RNF213-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF213-AS1 Gene

Proteins for RNF213-AS1 Gene

Post-translational modifications for RNF213-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for RNF213-AS1 Gene

Domains & Families for RNF213-AS1 Gene

Gene Families for RNF213-AS1 Gene

genes like me logo Genes that share domains with RNF213-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNF213-AS1 Gene

Function for RNF213-AS1 Gene

Phenotypes From GWAS Catalog for RNF213-AS1 Gene

genes like me logo Genes that share phenotypes with RNF213-AS1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RNF213-AS1 Gene

Localization for RNF213-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 RNF213-AS1 Gene

Pathways & Interactions for RNF213-AS1 Gene

PathCards logo

SuperPathways for RNF213-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RNF213-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for RNF213-AS1 Gene

Drugs & Compounds for RNF213-AS1 Gene

No Compound Related Data Available

Transcripts for RNF213-AS1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for RNF213-AS1 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00003E7A25_9606 lncRNA 571 4

Ensembl: ENST00000572151 (view in UCSC) ,

LncBook: HSALNT0246086,

LNCipedia: lnc-NPTX1-2:3,

NONCODE: NONHSAT056372.2,

URS00000A5E37_9606 lncRNA 524 3

Ensembl: ENST00000573394 (view in UCSC) ,

LNCipedia: lnc-NPTX1-2:1,

NONCODE: NONHSAT056380.2,

URS000075E001_9606 lncRNA 3699 2

RefSeq: NR_029376,

LNCipedia: lnc-NPTX1-2:12,

URS0000138FB7_9606 lncRNA 3653 2

Ensembl: ENST00000575034 (view in UCSC) ,

LNCipedia: lnc-NPTX1-2:2,

URS0000A91EA4_9606 lncRNA 1975 2

Ensembl: ENST00000613190 (view in UCSC) ,

LNCipedia: lnc-NPTX1-2:5,

RNF213-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for RNF213-AS1 Gene

2 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for RNF213-AS1 Gene

No ASD Table

Relevant External Links for RNF213-AS1 Gene

GeneLoc Exon Structure for
RNF213-AS1

Expression for RNF213-AS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF213-AS1

SOURCE GeneReport for Unigene cluster for RNF213-AS1 Gene:

Hs.657519
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 RNF213-AS1 Gene

Orthologs for RNF213-AS1 Gene

Evolution for RNF213-AS1 Gene

ENSEMBL:
Gene Tree for RNF213-AS1 (if available)
TreeFam:
Gene Tree for RNF213-AS1 (if available)
Alliance of Genome Resources:
Additional Orthologs for RNF213-AS1

No data available for Orthologs for RNF213-AS1 Gene

Paralogs for RNF213-AS1 Gene

No data available for Paralogs for RNF213-AS1 Gene

Variants for RNF213-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF213-AS1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1033794 Uncertain Significance: Moyamoya disease 2 80,382,997(-) C/T
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile)
MISSENSE
870408 Pathogenic: Moyamoya disease 2 80,369,795(-) C/T
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe)
MISSENSE
916445 Conflicting Interpretations: Inborn genetic diseases; not provided 80,369,783(-) C/T
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile)
MISSENSE
947036 Likely Pathogenic: not provided 80,386,276(-) T/C
NM_001256071.3(RNF213):c.14566T>C (p.Cys4856Arg)
MISSENSE
968995 Uncertain Significance: not provided 80,379,663(-) C/T
NM_001256071.3(RNF213):c.13589C>T (p.Ala4530Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RNF213-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 RNF213-AS1 Gene

Variant ID Type Subtype PubMed ID
dgv189e215 CNV deletion 23714750
esv2311590 CNV deletion 18987734
esv24254 CNV gain+loss 19812545
esv2716376 CNV deletion 23290073
esv2716377 CNV deletion 23290073
esv3307084 CNV mobile element insertion 20981092
esv3641372 CNV loss 21293372
esv3641375 CNV loss 21293372
nsv952384 CNV deletion 24416366
nsv954541 CNV deletion 24416366

Additional Variant Information for RNF213-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF213-AS1
Leiden Open Variation Database (LOVD)
RNF213-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RNF213-AS1 Gene

Disorders for RNF213-AS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RNF213-AS1 Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
moyamoya disease 2
  • mymy2
moyamoya disease 1
  • mymy1
moyamoya angiopathy
anaplastic ependymoma
  • ependymoma, anaplastic
patent foramen ovale
  • atrial septal defect within oval fossa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF213-AS1

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RNF213-AS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF213-AS1 Gene

Publications for RNF213-AS1 Gene

  1. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. (PMID: 31474762) Pinard A … Milewicz DM (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72
  2. p53-inducible long non-coding RNA PICART1 mediates cancer cell proliferation and migration. (PMID: 28339031) Cao Y … Cao D (International journal of oncology 2017) 3
  3. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. (PMID: 25278557) Cecchi AC … Milewicz DM (Stroke 2014) 72
  4. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. (PMID: 21799892) Liu W … Koizumi A (PloS one 2011) 72
  5. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. (PMID: 21048783) Kamada F … Kure S (Journal of human genetics 2011) 3

No data available for Mastermind for RNF213-AS1 Gene

Products for RNF213-AS1 Gene

Sources for RNF213-AS1 Gene