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Aliases for FAM47E-STBD1 Gene

Aliases for FAM47E-STBD1 Gene

  • FAM47E-STBD1 Readthrough 2 3 5

External Ids for FAM47E-STBD1 Gene

Previous GeneCards Identifiers for FAM47E-STBD1 Gene

  • GC04U901512
  • GC04P077174

Summaries for FAM47E-STBD1 Gene

Entrez Gene Summary for FAM47E-STBD1 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011]

GeneCards Summary for FAM47E-STBD1 Gene

FAM47E-STBD1 (FAM47E-STBD1 Readthrough) is a Protein Coding gene. An important paralog of this gene is FAM47E.

Additional gene information for FAM47E-STBD1 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 FAM47E-STBD1 Gene

Genomics for FAM47E-STBD1 Gene

GeneHancer (GH) Regulatory Elements for FAM47E-STBD1 Gene

Promoters and enhancers for FAM47E-STBD1 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
GH04I076250 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 550.8 +0.0 47 1.8 FOXA2 ARID4B SIN3A DMAP1 ZNF48 YY1 RXRA YY2 ZHX2 MXD4 FAM47E-STBD1 LOC105377286 ART3 FAM47E CCDC158 SCARB2 STBD1
GH04I076304 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 0.2 +55.3 55283 4.4 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ETS1 GLIS2 STBD1 CCDC158 SCARB2 FAM47E RNU6-1000P NUP54 GC04M076318 GC04M076287 FAM47E-STBD1
GH04I076299 Enhancer 1.4 FANTOM5 Ensembl ENCODE 0.2 +49.8 49807 3.4 PKNOX1 FOXA2 ARNT ZNF2 IRF4 YY1 ZNF766 CBX5 FOS JUNB STBD1 SCARB2 FAM47E CCDC158 GC04M076287 FAM47E-STBD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM47E-STBD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM47E-STBD1 Gene

Genomic Locations for FAM47E-STBD1 Gene
chr4:76,251,700-76,311,130
(GRCh38/hg38)
Size:
59,431 bases
Orientation:
Plus strand
chr4:77,172,886-77,232,752
(GRCh37/hg19)

Genomic View for FAM47E-STBD1 Gene

Genes around FAM47E-STBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM47E-STBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM47E-STBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM47E-STBD1 Gene

Proteins for FAM47E-STBD1 Gene

  • Protein details for FAM47E-STBD1 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    D6RA91
    Recommended name:
    FAM47E-STBD1 readthrough
    Protein Accession:
    D6RA91

    Protein attributes for FAM47E-STBD1 Gene

    Size:
    191 amino acids
    Molecular mass:
    22177 Da
    Quaternary structure:
    No Data Available
  • Protein details for FAM47E-STBD1 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F6W5V1
    Recommended name:
    FAM47E-STBD1 readthrough
    Protein Accession:
    F6W5V1

    Protein attributes for FAM47E-STBD1 Gene

    Size:
    53 amino acids
    Molecular mass:
    6126 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM47E-STBD1 Gene

Post-translational modifications for FAM47E-STBD1 Gene

No Post-translational modifications

Other Protein References for FAM47E-STBD1 Gene

No data available for DME Specific Peptides for FAM47E-STBD1 Gene

Domains & Families for FAM47E-STBD1 Gene

Gene Families for FAM47E-STBD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM47E-STBD1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAM47E-STBD1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for FAM47E-STBD1 Gene

Function for FAM47E-STBD1 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM47E-STBD1 Gene

Localization for FAM47E-STBD1 Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for FAM47E-STBD1 Gene

Pathways & Interactions for FAM47E-STBD1 Gene

SuperPathways for FAM47E-STBD1 Gene

No Data Available

Interacting Proteins for FAM47E-STBD1 Gene

Gene Ontology (GO) - Biological Process for FAM47E-STBD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM47E-STBD1 Gene

Drugs & Compounds for FAM47E-STBD1 Gene

No Compound Related Data Available

Transcripts for FAM47E-STBD1 Gene

mRNA/cDNA for FAM47E-STBD1 Gene

(1) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for FAM47E-STBD1 Gene

No ASD Table

Relevant External Links for FAM47E-STBD1 Gene

GeneLoc Exon Structure for
FAM47E-STBD1
ECgene alternative splicing isoforms for
FAM47E-STBD1

Expression for FAM47E-STBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM47E-STBD1 Gene

mRNA differential expression in normal tissues according to GTEx for FAM47E-STBD1 Gene

This gene is overexpressed in Muscle - Skeletal (x7.3) and Liver (x4.7).

Protein differential expression in normal tissues from HIPED for FAM47E-STBD1 Gene

This gene is overexpressed in Lavage (30.6) and Liver (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for FAM47E-STBD1 Gene



Protein tissue co-expression partners for FAM47E-STBD1 Gene

genes like me logo Genes that share expression patterns with FAM47E-STBD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM47E-STBD1 Gene

Orthologs for FAM47E-STBD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM47E-STBD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 55 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 49 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam47e 34
  • 35 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 31 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 29 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:158260 34 34
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4199 34
  • 19 (a)
OneToMany
Species where no ortholog for FAM47E-STBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM47E-STBD1 Gene

ENSEMBL:
Gene Tree for FAM47E-STBD1 (if available)
TreeFam:
Gene Tree for FAM47E-STBD1 (if available)

Paralogs for FAM47E-STBD1 Gene

Paralogs for FAM47E-STBD1 Gene

(1) SIMAP similar genes for FAM47E-STBD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM47E-STBD1: view

Variants for FAM47E-STBD1 Gene

Sequence variations from dbSNP and Humsavar for FAM47E-STBD1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000009445 -- 76,270,647(+) GG/G intron_variant
rs1000102799 -- 76,253,011(+) G/A intron_variant
rs1000125446 -- 76,264,298(+) A/G intron_variant
rs1000166187 -- 76,293,943(+) T/C intron_variant
rs1000182421 -- 76,282,296(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM47E-STBD1 Gene

Variant ID Type Subtype PubMed ID
esv2421530 CNV deletion 20811451
esv2661271 CNV deletion 23128226
esv2760851 CNV loss 21179565
esv3390912 CNV duplication 20981092
esv3601049 CNV loss 21293372
esv3601050 CNV loss 21293372
nsv461559 CNV loss 19166990
nsv516357 CNV loss 19592680
nsv594695 CNV loss 21841781
nsv7363 OTHER inversion 18451855

Variation tolerance for FAM47E-STBD1 Gene

Gene Damage Index Score: 5.34; 70.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM47E-STBD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM47E-STBD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM47E-STBD1 Gene

Disorders for FAM47E-STBD1 Gene

Additional Disease Information for FAM47E-STBD1

No disorders were found for FAM47E-STBD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM47E-STBD1 Gene

Publications for FAM47E-STBD1 Gene

  1. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. (PMID: 25064009) Nalls MA … Singleton AB (Nature genetics 2014) 3 58
  2. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do CB … Eriksson N (PLoS genetics 2011) 3 58
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
  4. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for FAM47E-STBD1 Gene

Sources for FAM47E-STBD1 Gene

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