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Aliases for ESPNP Gene

Aliases for ESPNP Gene

  • Espin Pseudogene 2 3 5
  • DJ1182A14.1 3

External Ids for ESPNP Gene

Previous GeneCards Identifiers for ESPNP Gene

  • GC01U901166
  • GC01M016890
  • GC01M017017
  • GC01M015410
  • GC01M017016
  • GC01M017019

Summaries for ESPNP Gene

GeneCards Summary for ESPNP Gene

ESPNP (Espin Pseudogene) is a Pseudogene.

Additional gene information for ESPNP 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 ESPNP Gene

Genomics for ESPNP Gene

GeneHancer (GH) Regulatory Elements for ESPNP Gene

Promoters and enhancers for ESPNP 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 ESPNP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESPNP gene promoter:
  • E47
  • FOXO4
  • LyF-1
  • NF-1
  • NF-1/L
  • p300
  • Pax-4a
  • POU6F1 (c2)
  • SEF-1 (1)
  • SRY

Genomic Locations for ESPNP Gene

Genomic Locations for ESPNP Gene
chr1:16,687,339-16,720,157
(GRCh38/hg38)
Size:
32,819 bases
Orientation:
Minus strand
chr1:17,013,834-17,046,652
(GRCh37/hg19)
Size:
32,819 bases
Orientation:
Minus strand

Genomic View for ESPNP Gene

Genes around ESPNP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ESPNP Gene

Proteins for ESPNP Gene

No data available for DME Specific Peptides for ESPNP Gene

Domains & Families for ESPNP 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 ESPNP Gene

Function for ESPNP Gene

Phenotypes From GWAS Catalog for ESPNP Gene

Phenotypes for ESPNP Gene

genes like me logo Genes that share phenotypes with ESPNP: view

Animal Model Products

CRISPR Products

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 ESPNP Gene

Localization for ESPNP 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 ESPNP Gene

Pathways & Interactions for ESPNP Gene

PathCards logo

SuperPathways for ESPNP Gene

No Data Available

Interacting Proteins for ESPNP Gene

Gene Ontology (GO) - Biological Process for ESPNP Gene

None

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

Drugs & Compounds for ESPNP Gene

No Compound Related Data Available

Transcripts for ESPNP Gene

mRNA/cDNA for ESPNP Gene

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

Unigene Clusters for ESPNP Gene

Espin pseudogene:
Representative Sequences:

CRISPR Products

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

No ASD Table

Relevant External Links for ESPNP Gene

GeneLoc Exon Structure for
ESPNP
ECgene alternative splicing isoforms for
ESPNP

Expression for ESPNP Gene

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

mRNA differential expression in normal tissues according to GTEx for ESPNP Gene

This gene is overexpressed in Kidney - Cortex (x10.6), Testis (x9.9), and Liver (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of ESPNP Gene:

ESPNP

SOURCE GeneReport for Unigene cluster for ESPNP Gene:

Hs.548239
genes like me logo Genes that share expression patterns with ESPNP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 ESPNP Gene

Orthologs for ESPNP Gene

Evolution for ESPNP Gene

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

No data available for Orthologs for ESPNP Gene

Paralogs for ESPNP Gene

No data available for Paralogs for ESPNP Gene

Variants for ESPNP Gene

Sequence variations from dbSNP and Humsavar for ESPNP Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1002131351 -- 16,701,451(-) A/C intron_variant
rs1002933581 -- 16,691,385(-) G/A/C intron_variant
rs1003276623 -- 16,716,956(-) G/A intron_variant
rs1003322688 -- 16,699,476(-) T/C non_coding_transcript_variant
rs1004256602 -- 16,708,019(-) C/T non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv62n100 CNV gain 25217958
dgv63n100 CNV gain 25217958
dgv65n100 CNV gain 25217958
dgv66n100 CNV gain 25217958
dgv68n100 CNV gain 25217958
dgv70n100 CNV gain+loss 25217958
dgv72n100 CNV gain+loss 25217958
dgv74n100 CNV gain 25217958
dgv75n100 CNV gain 25217958
dgv76n100 CNV gain 25217958
dgv77n100 CNV loss 25217958
dgv78n100 CNV loss 25217958
dgv79n100 CNV gain 25217958
dgv80n100 CNV loss 25217958
dgv81n100 CNV gain+loss 25217958
esv3577752 CNV loss 25503493
esv3892414 CNV gain 25118596
esv6890 OTHER inversion 19470904
nsv1004807 CNV gain+loss 25217958
nsv1004978 CNV gain+loss 25217958
nsv1005904 CNV gain 25217958
nsv1009050 CNV loss 25217958
nsv1013011 CNV gain 25217958
nsv1014742 CNV gain 25217958
nsv954849 CNV duplication 24416366
nsv954848 CNV duplication 24416366
nsv9324 CNV gain+loss 18304495
nsv829625 CNV gain 20364138
nsv821765 CNV gain 20364138
nsv821754 CNV gain 20364138
nsv821743 CNV gain 20364138
nsv821511 CNV duplication 20802225
nsv819277 CNV gain 19587683
nsv7173 OTHER inversion 18451855
nsv545667 CNV loss 21841781
nsv545663 CNV loss 21841781
nsv545654 CNV loss 21841781
nsv511141 CNV loss 21212237
nsv438303 CNV loss 16468122
nsv437206 CNV loss 16327808
nsv437205 CNV loss 16327808
nsv437204 CNV loss 16327808
nsv436652 OTHER inversion 17901297
nsv428421 CNV gain+loss 18775914
nsv1161259 CNV duplication 26073780
nsv1161255 CNV duplication 26073780
nsv1161242 CNV duplication 26073780
nsv1145756 CNV duplication 26484159
nsv1116446 OTHER inversion 24896259
nsv1075777 CNV duplication 25765185
esv34697 CNV gain 17911159
esv3419956 CNV duplication 20981092
esv33965 CNV gain+loss 17666407
esv3372391 CNV duplication 20981092
esv3334984 CNV duplication 20981092
esv29948 CNV loss 18421352
esv29642 CNV gain+loss 19812545
esv2758925 CNV gain+loss 17122850
esv2750816 CNV gain 17911159
esv2658050 CNV deletion 23128226
esv2547944 CNV gain 19546169
dgv93n100 CNV gain 25217958
dgv92n100 CNV gain 25217958
dgv91n100 CNV gain+loss 25217958
dgv90n100 CNV gain 25217958
dgv89n100 CNV gain+loss 25217958
dgv88n100 CNV loss 25217958
dgv87n100 CNV loss 25217958
dgv86n100 CNV gain 25217958
dgv85n100 CNV gain 25217958
dgv83n100 CNV loss 25217958
dgv82n100 CNV gain+loss 25217958
dgv61n100 CNV gain+loss 25217958
dgv60n100 CNV loss 25217958
dgv59n100 CNV gain 25217958
dgv55n100 CNV gain+loss 25217958
dgv54n100 CNV gain 25217958
dgv53n100 CNV loss 25217958
dgv52n100 CNV gain+loss 25217958
dgv52e59 CNV duplication 20981092
dgv51n100 CNV loss 25217958
dgv50n106 CNV duplication 24896259
dgv50n100 CNV gain 25217958
dgv49n100 CNV loss 25217958
dgv45n100 CNV gain 25217958
dgv42n100 CNV loss 25217958
dgv41n100 CNV gain 25217958
dgv39n100 CNV gain 25217958
dgv21n67 CNV gain 20364138
dgv20n67 CNV gain 20364138
dgv1e203 CNV gain+loss 21179565
dgv165n54 CNV loss 21841781
dgv164n54 CNV loss 21841781
dgv159n54 CNV gain 21841781
dgv11e214 CNV gain 21293372

Additional Variant Information for ESPNP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ESPNP Gene

Additional Disease Information for ESPNP

No disorders were found for ESPNP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESPNP Gene

Publications for ESPNP Gene

  1. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. (PMID: 15286153) Naz S … Friedman TB (Journal of medical genetics 2004) 2 3 58
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 58

Products for ESPNP Gene

Sources for ESPNP Gene

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