Aliases for EGFEM1P Gene

Aliases for EGFEM1P Gene

  • EGF Like And EMI Domain Containing 1, Pseudogene 2 3 5
  • NCRNA00259 3 4
  • C3orf50 3 4
  • Putative EGF-Like And EMI Domain-Containing Protein 1 4
  • EGF-Like And EMI Domain Containing 1, Pseudogene 2
  • Multiple EGF-Like-Domains 6 Pseudogene 3
  • Chromosome 3 Open Reading Frame 50 2
  • Non-Protein Coding RNA 259 2
  • EGFEM1P 5

External Ids for EGFEM1P Gene

Previous HGNC Symbols for EGFEM1P Gene

  • C3orf50
  • NCRNA00259

Previous GeneCards Identifiers for EGFEM1P Gene

  • GC03P165337
  • GC03P167969

Summaries for EGFEM1P Gene

GeneCards Summary for EGFEM1P Gene

EGFEM1P (EGF Like And EMI Domain Containing 1, Pseudogene) is a Pseudogene.

Additional gene information for EGFEM1P 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 EGFEM1P Gene

Genomics for EGFEM1P Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EGFEM1P 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
GH03J168248 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 479 4 SP1 HNRNPL CTCF PRDM10 ZNF629 ZNF692 POLR2A BACH1 LARP7 PRDM1 EGFEM1P lnc-SERPINI1-17 RNU2-20P ENSG00000241882 GOLIM4
GH03J168858 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.1 +610.8 610786 3.4 CEBPG GATAD2A NFKBIZ RCOR2 RBFOX2 RXRB SP1 GABPA CEBPA SOX13 RPL21P43 lnc-MECOM-2 EGFEM1P lnc-MYNN-12 GOLIM4 MECOM
GH03J168838 Enhancer 0.8 Ensembl ENCODE dbSUPER 25.2 +590.2 590246 2.7 MAFF USF1 MAFK YY1 NANOG SP1 POU5F1 EGFEM1P HSALNG0030538 piR-57134-087 MECOM GOLIM4
GH03J168812 Enhancer 0.8 Ensembl ENCODE 26.8 +563.1 563079 2.8 PRDM1 ZBTB44 EZH2 ATF2 FOXA1 FEZF1 PRDM6 NANOG ZNF362 POU5F1 EGFEM1P HSALNG0030538 piR-32470-049 lnc-SERPINI1-17 MECOM GOLIM4
GH03J168801 Enhancer 0.6 Ensembl ENCODE 29.6 +553.2 553179 2.6 FOS JUN CREB1 EGFEM1P piR-32470-049 HSALNG0030538 lnc-SERPINI1-17 GOLIM4 MECOM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EGFEM1P on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for EGFEM1P Gene

Genomic Locations for EGFEM1P Gene
chr3:168,249,522-168,830,599
(GRCh38/hg38)
Size:
581,078 bases
Orientation:
Plus strand
chr3:167,967,310-168,548,387
(GRCh37/hg19)
Size:
581,078 bases
Orientation:
Plus strand

Genomic View for EGFEM1P Gene

Genes around EGFEM1P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFEM1P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGFEM1P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGFEM1P Gene

Proteins for EGFEM1P Gene

  • Protein details for EGFEM1P Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0D2K5-EGFEM_HUMAN
    Recommended name:
    Putative EGF-like and EMI domain-containing protein 1
    Protein Accession:
    Q0D2K5

    Protein attributes for EGFEM1P Gene

    Size:
    195 amino acids
    Molecular mass:
    21632 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EGFEM1P Gene

Post-translational modifications for EGFEM1P Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EGFEM1P Gene

Domains & Families for EGFEM1P Gene

Protein Domains for EGFEM1P Gene

ProtoNet:

Suggested Antigen Peptide Sequences for EGFEM1P Gene

GenScript: Design optimal peptide antigens:
  • EGF-like and EMI domain-containing protein 1 (EGFEM_HUMAN)
genes like me logo Genes that share domains with EGFEM1P: view

No data available for Gene Families , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EGFEM1P Gene

Function for EGFEM1P Gene

Phenotypes From GWAS Catalog for EGFEM1P Gene

genes like me logo Genes that share phenotypes with EGFEM1P: 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 EGFEM1P Gene

Localization for EGFEM1P 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 EGFEM1P Gene

Pathways & Interactions for EGFEM1P Gene

PathCards logo

SuperPathways for EGFEM1P Gene

No Data Available

Gene Ontology (GO) - Biological Process for EGFEM1P Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for EGFEM1P Gene

Drugs & Compounds for EGFEM1P Gene

No Compound Related Data Available

Transcripts for EGFEM1P Gene

mRNA/cDNA for EGFEM1P Gene

12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for EGFEM1P Gene

No ASD Table

Relevant External Links for EGFEM1P Gene

GeneLoc Exon Structure for
EGFEM1P

Expression for EGFEM1P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EGFEM1P Gene

mRNA differential expression in normal tissues according to GTEx for EGFEM1P Gene

This gene is overexpressed in Pituitary (x13.4) and Testis (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EGFEM1P

SOURCE GeneReport for Unigene cluster for EGFEM1P Gene:

Hs.478158
genes like me logo Genes that share expression patterns with EGFEM1P: view

Primer Products

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 EGFEM1P Gene

Orthologs for EGFEM1P Gene

Evolution for EGFEM1P Gene

ENSEMBL:
Gene Tree for EGFEM1P (if available)
TreeFam:
Gene Tree for EGFEM1P (if available)

No data available for Orthologs for EGFEM1P Gene

Paralogs for EGFEM1P Gene

(1) SIMAP similar genes for EGFEM1P Gene using alignment to 1 proteins:

  • EGFEM_HUMAN
genes like me logo Genes that share paralogs with EGFEM1P: view

No data available for Paralogs for EGFEM1P Gene

Variants for EGFEM1P Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EGFEM1P Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs603638 - p.Gly59Asp
rs678690 - p.Pro157Leu

Structural Variations from Database of Genomic Variants (DGV) for EGFEM1P Gene

Variant ID Type Subtype PubMed ID
esv2656898 CNV deletion 23128226
esv26580 CNV loss 19812545
esv2661432 CNV deletion 23128226
esv2663400 CNV deletion 23128226
esv2668011 CNV deletion 23128226
esv2726175 CNV deletion 23290073
esv2726176 CNV deletion 23290073
esv2726177 CNV deletion 23290073
esv2759201 CNV gain 17122850
esv3303235 CNV mobile element insertion 20981092
esv3332572 CNV insertion 20981092
esv3341798 CNV insertion 20981092
esv3402112 CNV insertion 20981092
esv3402738 CNV insertion 20981092
esv3598573 CNV loss 21293372
esv3598575 CNV loss 21293372
esv3598576 CNV loss 21293372
esv3598578 CNV loss 21293372
esv3598580 CNV loss 21293372
esv3598583 CNV loss 21293372
esv3598584 CNV loss 21293372
esv3598585 CNV loss 21293372
esv3893813 CNV loss 25118596
nsv1010691 CNV loss 25217958
nsv1136782 CNV deletion 24896259
nsv4106 CNV insertion 18451855
nsv4107 CNV deletion 18451855
nsv520411 CNV loss 19592680
nsv592503 CNV loss 21841781
nsv829788 CNV loss 17160897
nsv829789 CNV gain 17160897
nsv967086 CNV duplication 23825009

Additional Variant Information for EGFEM1P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGFEM1P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) and Variation tolerance for EGFEM1P Gene

Disorders for EGFEM1P Gene

Additional Disease Information for EGFEM1P

No disorders were found for EGFEM1P Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EGFEM1P Gene

Publications for EGFEM1P Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  2. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X … REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology Donor Study-II Component International (PloS one 2013) 3
  3. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PMID: 20210993) Zhang ZD … Gerstein M (Genome biology 2010) 3
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for EGFEM1P Gene

Sources for EGFEM1P Gene