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Aliases for PTOV1-AS2 Gene

Subcategory (RNA class) for PTOV1-AS2 Gene

non-coding RNA

Quality Score for this RNA gene is

13

Aliases for PTOV1-AS2 Gene

  • PTOV1 Antisense RNA 2 2 3 5

External Ids for PTOV1-AS2 Gene

Summaries for PTOV1-AS2 Gene

GeneCards Summary for PTOV1-AS2 Gene

PTOV1-AS2 (PTOV1 Antisense RNA 2) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with PTOV1-AS2 include Ataxia-Oculomotor Apraxia 4 and Early Infantile Epileptic Encephalopathy.

Additional gene information for PTOV1-AS2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTOV1-AS2 Gene

Genomics for PTOV1-AS2 Gene

GeneHancer (GH) Regulatory Elements for PTOV1-AS2 Gene

Promoters and enhancers for PTOV1-AS2 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
GH19J049857 Enhancer 1.3 FANTOM5 Ensembl ENCODE 618.3 -1.4 -1435 6.7 SP1 POLR2A MAFK PRDM1 GLIS2 ZBTB33 IKZF1 ZNF600 PRDM10 ZIC2 PTOV1-AS2 AKT1S1 PNKP PRR12 NUP62 PTOV1 FUZ ATF5 PRRG2 MYH14
GH19J048958 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 53.2 +895.3 895260 10.2 MTA3 ZNF652 SP1 ZFX CC2D1A ELF3 SIX5 ZNF148 NKRF POLR2A FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PRR12 PTOV1-AS2 GRWD1 PIH1D1 IRF3
GH19J050657 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 64.2 -799.6 -799612 3.4 SP1 CC2D1A ZFX CBFA2T2 ZNF148 MLLT1 ZNF121 GTF2F1 CSDE1 ZSCAN21 SYT3 NUP62 POLD1 PTOV1-AS2 IRF3 PNKP ZNF175 ENSG00000268047 CTU1 ZNF473
GH19J048871 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 53.6 +983.5 983537 8.2 MTA3 SP1 CC2D1A ELF3 ZKSCAN8 CBFA2T2 ZNF148 NKRF POLR2A MLLT1 GC19M048876 PPP1R15A SNRNP70 PRR12 GRWD1 PTOV1-AS2 IRF3 SNORD35A SNORD35B PIH1D1
GH19J049874 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 48.8 -17.4 -17445 5.2 SP1 CC2D1A ZFX ELF3 MNT SIX5 CBFA2T2 ZNF148 NKRF POLR2A PNKP AKT1S1 PIR46791 TBC1D17 NUP62 POLD1 PTOV1-AS2 SNORD35A IRF3 ALDH16A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTOV1-AS2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PTOV1-AS2 Gene

Genomic Locations for PTOV1-AS2 Gene
chr19:49,856,465-49,859,289
(GRCh38/hg38)
Size:
2,825 bases
Orientation:
Minus strand
chr19:50,360,227-50,362,546
(GRCh37/hg19)
Size:
2,320 bases
Orientation:
Minus strand

Genomic View for PTOV1-AS2 Gene

Genes around PTOV1-AS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTOV1-AS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTOV1-AS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTOV1-AS2 Gene

Proteins for PTOV1-AS2 Gene

Post-translational modifications for PTOV1-AS2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PTOV1-AS2 Gene

Domains & Families for PTOV1-AS2 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for PTOV1-AS2 Gene

Function for PTOV1-AS2 Gene

Phenotypes From GWAS Catalog for PTOV1-AS2 Gene

Animal Model Products

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 PTOV1-AS2 Gene

Localization for PTOV1-AS2 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 PTOV1-AS2 Gene

Pathways & Interactions for PTOV1-AS2 Gene

PathCards logo

SuperPathways for PTOV1-AS2 Gene

No Data Available

Interacting Proteins for PTOV1-AS2 Gene

Gene Ontology (GO) - Biological Process for PTOV1-AS2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PTOV1-AS2 Gene

Drugs & Compounds for PTOV1-AS2 Gene

No Compound Related Data Available

Transcripts for PTOV1-AS2 Gene

mRNA/cDNA for PTOV1-AS2 Gene

(3) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(4) RNA Central transcripts :

Alternative Splicing Database (ASD) splice patterns (SP) for PTOV1-AS2 Gene

No ASD Table

Relevant External Links for PTOV1-AS2 Gene

GeneLoc Exon Structure for
PTOV1-AS2
ECgene alternative splicing isoforms for
PTOV1-AS2

Expression for PTOV1-AS2 Gene

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 PTOV1-AS2 Gene

Orthologs for PTOV1-AS2 Gene

Evolution for PTOV1-AS2 Gene

ENSEMBL:
Gene Tree for PTOV1-AS2 (if available)
TreeFam:
Gene Tree for PTOV1-AS2 (if available)

No data available for Orthologs for PTOV1-AS2 Gene

Paralogs for PTOV1-AS2 Gene

No data available for Paralogs for PTOV1-AS2 Gene

Variants for PTOV1-AS2 Gene

Sequence variations from dbSNP and Humsavar for PTOV1-AS2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1050332 benign, uncertain-significance, not specified, Early infantile epileptic encephalopathy 10 49,861,233(-) G/A upstream_transcript_variant
rs142180374 benign-likely-benign, benign, not specified, Early infantile epileptic encephalopathy 12 49,861,257(-) G/A/C upstream_transcript_variant
rs1555810613 pathogenic, Ataxia-oculomotor apraxia 4 49,861,265(-) G/GCAGTACAG upstream_transcript_variant
rs201872477 uncertain-significance, Epileptic encephalopathy 49,861,227(-) T/A/G upstream_transcript_variant
rs755715265 likely-benign, Long QT syndrome 49,857,051(-) A/T non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PTOV1-AS2 Gene

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
dgv54n68 CNV loss 17160897
nsv1140251 OTHER inversion 24896259
nsv470150 CNV gain 18288195
nsv524068 CNV loss 19592680
nsv524534 CNV loss 19592680
nsv526372 CNV loss 19592680
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Additional Variant Information for PTOV1-AS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTOV1-AS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PTOV1-AS2 Gene

Disorders for PTOV1-AS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTOV1-AS2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
ataxia-oculomotor apraxia 4
  • aoa4
early infantile epileptic encephalopathy
  • early infantile epileptic encephalopathy with burst-suppression
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PTOV1-AS2

genes like me logo Genes that share disorders with PTOV1-AS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTOV1-AS2 Gene

Publications for PTOV1-AS2 Gene

No publications were found for PTOV1-AS2 Gene.

No data available for External Links for PTOV1-AS2 Gene

Products for PTOV1-AS2 Gene

Sources for PTOV1-AS2 Gene

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