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Aliases for PISRT1 Gene

Subcategory (RNA class) for PISRT1 Gene

non-coding RNA

Quality Score for this RNA gene is

13

Aliases for PISRT1 Gene

  • PISRT1 LncRNA 2 3
  • Polled Intersex Syndrome Regulated Transcript 1 (Non-Protein Coding RNA) 2 3 5
  • Polled Intersex Syndrome Regulated Transcript 1 Homolog (Goat) 2 3
  • Non-Protein Coding RNA 195 2
  • NCRNA00195 3

External Ids for PISRT1 Gene

Previous GeneCards Identifiers for PISRT1 Gene

  • GC03U990238
  • GC03M138951

Summaries for PISRT1 Gene

GeneCards Summary for PISRT1 Gene

PISRT1 (PISRT1 LncRNA) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with PISRT1 include Blepharophimosis, Ptosis, And Epicanthus Inversus and Multiple Pterygium Syndrome, Escobar Variant.

Gene Wiki entry for PISRT1 Gene

Additional gene information for PISRT1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PISRT1 Gene

Genomics for PISRT1 Gene

GeneHancer (GH) Regulatory Elements for PISRT1 Gene

Promoters and enhancers for PISRT1 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
GH03J139234 Enhancer 0.7 ENCODE dbSUPER 650.7 -1.2 -1196 1.2 HLF MAX MNT MYC ENSG00000276304 GC03M139233 PISRT1 PIR46128 MRPS22
GH03J139232 Enhancer 0.2 dbSUPER 650.7 +0.4 421 0.4 ENSG00000276304 GC03M139233 PISRT1 PIR44511 MRPS22
GH03J139233 Enhancer 0.2 dbSUPER 650.7 -0.2 -170 0.3 ENSG00000276304 GC03M139233 PISRT1 PIR46128 MRPS22
GH03J139237 Enhancer 0.5 dbSUPER 0.7 -4.1 -4146 0.9 ZNF512 BHLHE40 IKZF1 MGA GC03M139233 PISRT1 PIR46128 MRPS22
GH03J139251 Enhancer 0.7 dbSUPER 0.4 -19.0 -19039 1.9 IRF2 TAF1 CEBPG ZNF644 RAD21 YY1 RXRA CEBPB REST NR2F2 PIR46128 GC03M139233 PISRT1 MRPS22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PISRT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PISRT1 Gene

Genomic Locations for PISRT1 Gene
chr3:139,232,992-139,233,522
(GRCh38/hg38)
Size:
531 bases
Orientation:
Minus strand
chr3:138,951,834-138,952,364
(GRCh37/hg19)
Size:
531 bases
Orientation:
Minus strand

Genomic View for PISRT1 Gene

Genes around PISRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PISRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PISRT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PISRT1 Gene

Function for PISRT1 Gene

Phenotypes From GWAS Catalog for PISRT1 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 PISRT1 Gene

Localization for PISRT1 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 PISRT1 Gene

Pathways & Interactions for PISRT1 Gene

SuperPathways for PISRT1 Gene

No Data Available

Interacting Proteins for PISRT1 Gene

Gene Ontology (GO) - Biological Process for PISRT1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PISRT1 Gene

Drugs & Compounds for PISRT1 Gene

No Compound Related Data Available

Transcripts for PISRT1 Gene

mRNA/cDNA for PISRT1 Gene

(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(2) RNA Central transcripts :

Unigene Clusters for PISRT1 Gene

Polled intersex syndrome regulated transcript 1 (non-protein coding RNA):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PISRT1 Gene

No ASD Table

Relevant External Links for PISRT1 Gene

GeneLoc Exon Structure for
PISRT1
ECgene alternative splicing isoforms for
PISRT1

Expression for PISRT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PISRT1 Gene:

PISRT1

SOURCE GeneReport for Unigene cluster for PISRT1 Gene:

Hs.721270
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 PISRT1 Gene

Orthologs for PISRT1 Gene

Evolution for PISRT1 Gene

ENSEMBL:
Gene Tree for PISRT1 (if available)
TreeFam:
Gene Tree for PISRT1 (if available)

No data available for Orthologs for PISRT1 Gene

Paralogs for PISRT1 Gene

No data available for Paralogs for PISRT1 Gene

Variants for PISRT1 Gene

Sequence variations from dbSNP and Humsavar for PISRT1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000643784 -- 139,232,757(-) C/T downstream_transcript_variant
rs1002591866 -- 139,234,492(-) AAGTAAGT/AAGT upstream_transcript_variant
rs1003134804 -- 139,232,970(-) C/T downstream_transcript_variant
rs1003418335 -- 139,233,328(-) T/C non_coding_transcript_variant
rs1004276914 -- 139,232,833(-) G/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PISRT1 Gene

Variant ID Type Subtype PubMed ID
esv3597932 CNV gain 21293372

Additional Variant Information for PISRT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PISRT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PISRT1 Gene

Disorders for PISRT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PISRT1 Gene - From: LncRNADisease and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PISRT1

genes like me logo Genes that share disorders with PISRT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PISRT1 Gene

Publications for PISRT1 Gene

  1. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). (PMID: 22171663) González-González C … Sánchez-Escribano F (Ophthalmic genetics 2012) 2 3 58
  2. Pisrt1, a gene implicated in XX sex reversal, is expressed in gonads of both sexes during mouse development. (PMID: 16137905) Loffler KA … Koopman P (Molecular genetics and metabolism 2005) 2 3 58
  3. Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. (PMID: 22446961) Lee YC … Wu JY (Nature genetics 2012) 44 58

Products for PISRT1 Gene

Sources for PISRT1 Gene

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