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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
  • 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

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGFEM1P Gene

Genomics for EGFEM1P Gene

GeneHancer (GH) Regulatory Elements for EGFEM1P Gene

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
GH03I168248 Promoter/Enhancer 1.4 Ensembl ENCODE 550.8 +0.2 219 2.4 ARID4B SIN3A FEZF1 GLI4 ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 KLF7 EGFEM1P RNU2-20P GC03P168287
GH03I168858 Enhancer 1 ENCODE dbSUPER 21.1 +610.8 610791 3.4 ELF3 FOXA2 ARID4B BATF YY1 CREM THAP11 MIXL1 CEBPB PPARG GC03M168859 RPL21P43 EGFEM1P LINC02082
GH03I168846 Enhancer 0.7 dbSUPER 23.6 +597.9 597884 0.9 CTCF PKNOX1 MAX RAD21 ZNF316 SCRT2 SMC3 MAFK ZBTB20 MIXL1 EGFEM1P RNU2-20P GC03M168859 RPSAP33
GH03I168801 Enhancer 0.4 ENCODE 29.6 +552.5 552516 0.8 JUN FOS EGFEM1P GC03M168859 RPSAP33
GH03I168827 Enhancer 0.3 dbSUPER 29.4 +578.8 578848 1.9 POLR2A EGFEM1P RNU2-20P GC03M168859 RPSAP33
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EGFEM1P on UCSC Golden Path with GeneCards custom track

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)

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:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EGFEM1P: view

No data available for Gene Families 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

Clone 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

SuperPathways for EGFEM1P Gene

No Data Available

Interacting Proteins for EGFEM1P Gene

Gene Ontology (GO) - Biological Process for EGFEM1P Gene

None

No data available for Pathways by source 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

Unigene Clusters for EGFEM1P Gene

EGF-like and EMI domain containing 1, pseudogene:
Representative Sequences:

Clone 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
ECgene alternative splicing isoforms for
EGFEM1P

Expression for EGFEM1P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of EGFEM1P Gene:

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:

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 from dbSNP and Humsavar for EGFEM1P Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000001824 -- 168,714,032(+) T/G intron_variant
rs1000011990 -- 168,751,251(+) G/A intron_variant
rs1000016340 -- 168,389,434(+) C/T intron_variant
rs1000019593 -- 168,627,912(+) G/A intron_variant
rs1000029930 -- 168,524,840(+) A/C intron_variant

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 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 58
  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 58
  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 58
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 58
  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 58

Products for EGFEM1P Gene

Sources for EGFEM1P Gene

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