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Aliases for PPIEL Gene

Aliases for PPIEL Gene

  • Peptidylprolyl Isomerase E Like Pseudogene 2 3 5
  • Peptidylprolyl Isomerase E (Cyclophilin E) Pseudogene 1 2 3
  • Peptidylprolyl Isomerase E-Like (Pseudogene) 2
  • Peptidylprolyl Isomerase E-Like 2
  • PPIEP1 3

External Ids for PPIEL Gene

Previous GeneCards Identifiers for PPIEL Gene

  • GC01M039988
  • GC01M038107

Summaries for PPIEL Gene

Entrez Gene Summary for PPIEL Gene

  • This transcribed pseudogene is related to PPIE (Gene ID: 10450). Expression of this pseudogene may be downregulated in non-small cell lung cancer (NSCLC). Differential DNA methylation of this locus may be associated with intellectual disability and bipolar disorder in human patients. [provided by RefSeq, Sep 2016]

GeneCards Summary for PPIEL Gene

PPIEL (Peptidylprolyl Isomerase E Like Pseudogene) is a Pseudogene. Diseases associated with PPIEL include Kagami-Ogata Syndrome and Temple Syndrome.

Additional gene information for PPIEL Gene

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

Genomics for PPIEL Gene

GeneHancer (GH) Regulatory Elements for PPIEL Gene

Promoters and enhancers for PPIEL 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
GH01I039558 Promoter/Enhancer 1.4 Ensembl ENCODE 561.5 +0.2 155 1.5 PKNOX1 SIN3A FEZF1 ZNF2 YY1 POLR2B ELK1 ZNF416 ATF7 SP3 PPIEL PABPC4 TRIT1 RLF ENSG00000182109
GH01I040256 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 101.9 -698.1 -698115 3.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ENSG00000259943 ZMPSTE24 PPIE PPIEL EXO5 TRIT1 RLF NFYC-AS1 NFYC LOC105378672
GH01I040372 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 64.5 -816.2 -816155 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 SMAP2 PPIEL EXO5 PPIE TRIT1 ENSG00000259943 ENSG00000182109 NFYC-AS1 RLF NFYC
GH01I039561 Enhancer 0.3 ENCODE 550.8 -1.9 -1937 1.1 POLR2A PPIEL LOC101929516 PABPC4
GH01I038984 Enhancer 1.4 Ensembl ENCODE dbSUPER 62.2 +573.5 573480 2.5 PKNOX1 FOXA2 ZFP64 YY1 ZNF121 ZNF213 FOS RXRA TSHZ1 REST PPIE PPIEL TRIT1 SF3A3 NDUFS5 MYCBP RRAGC ENSG00000182109 LOC101929516 AKIRIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPIEL on UCSC Golden Path with GeneCards custom track

Genomic Locations for PPIEL Gene

Genomic Locations for PPIEL Gene
chr1:39,522,280-39,559,698
(GRCh38/hg38)
Size:
37,419 bases
Orientation:
Minus strand
chr1:39,987,952-40,025,370
(GRCh37/hg19)

Genomic View for PPIEL Gene

Genes around PPIEL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PPIEL Gene

Proteins for PPIEL Gene

Post-translational modifications for PPIEL Gene

No Post-translational modifications

No data available for DME Specific Peptides for PPIEL Gene

Domains & Families for PPIEL 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 PPIEL Gene

Function for PPIEL Gene

Phenotypes From GWAS Catalog for PPIEL Gene

Animal Model Products

Clone 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 PPIEL Gene

Localization for PPIEL 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 PPIEL Gene

Pathways & Interactions for PPIEL Gene

SuperPathways for PPIEL Gene

No Data Available

Interacting Proteins for PPIEL Gene

Gene Ontology (GO) - Biological Process for PPIEL Gene

None

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

Drugs & Compounds for PPIEL Gene

No Compound Related Data Available

Transcripts for PPIEL Gene

mRNA/cDNA for PPIEL Gene

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

Unigene Clusters for PPIEL Gene

Peptidylprolyl isomerase E-like pseudogene:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PPIEL Gene

GeneLoc Exon Structure for
PPIEL
ECgene alternative splicing isoforms for
PPIEL

Expression for PPIEL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPIEL Gene

NURSA nuclear receptor signaling pathways regulating expression of PPIEL Gene:

PPIEL

SOURCE GeneReport for Unigene cluster for PPIEL Gene:

Hs.472508
genes like me logo Genes that share expression patterns with PPIEL: view

Primer Products

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 PPIEL Gene

Orthologs for PPIEL Gene

Evolution for PPIEL Gene

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

No data available for Orthologs for PPIEL Gene

Paralogs for PPIEL Gene

No data available for Paralogs for PPIEL Gene

Variants for PPIEL Gene

Sequence variations from dbSNP and Humsavar for PPIEL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000018830 -- 39,528,098(-) T/C intron_variant
rs1000094888 -- 39,549,815(-) T/C intron_variant
rs1000169097 -- 39,559,917(-) A/T upstream_transcript_variant
rs1000201168 -- 39,559,696(-) C/T non_coding_transcript_variant
rs1000230286 -- 39,523,286(-) GT/GTGT intron_variant

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

Variant ID Type Subtype PubMed ID
nsv829649 CNV loss 17160897
nsv7177 OTHER inversion 18451855
nsv508160 CNV deletion 20534489
nsv1116447 OTHER inversion 24896259
esv3585790 CNV loss 21293372
esv3561026 CNV deletion 23714750
esv29294 CNV loss 19812545
esv2663560 CNV deletion 23128226

Additional Variant Information for PPIEL Gene

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

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

Disorders for PPIEL Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPIEL Gene - From: GeneCards

Disorder Aliases PubMed IDs
kagami-ogata syndrome
  • kos
temple syndrome
  • uniparental disomy, maternal, chromosome 14
bipolar disorder
  • major affective disorder 1
- elite association - COSMIC cancer census association via MalaCards
Search PPIEL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPIEL

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

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

Publications for PPIEL Gene

  1. Aberrant DNA methylation associated with bipolar disorder identified from discordant monozygotic twins. (PMID: 17471289) Kuratomi G … Kato T (Molecular psychiatry 2008) 2 3 58
  2. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. (PMID: 27632690) Kagami M … Ogata T (Genetics in medicine : official journal of the American College of Medical Genetics 2017) 3 58
  3. RNA-Seq analysis of non-small cell lung cancer in female never-smokers reveals candidate cancer-associated long non-coding RNAs. (PMID: 27067812) Li J … Zhu Z (Pathology, research and practice 2016) 3 58
  4. Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype. (PMID: 26003415) Kolarova J … Caliebe A (European journal of medical genetics 2015) 3 58
  5. Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. (PMID: 24501229) Docherty LE … Mackay DJ (Journal of medical genetics 2014) 3 58

Products for PPIEL Gene

Sources for PPIEL Gene

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