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Aliases for FRG1BP Gene

Aliases for FRG1BP Gene

  • FSHD Region Gene 1 Family Member B, Pseudogene 2 3 5
  • FSHD Region Gene 1 Family, Member B 2 3
  • Chromosome 20 Open Reading Frame 80 2
  • BA348I14.2 3
  • C20orf80 3
  • FRG1B 3

External Ids for FRG1BP Gene

Previous HGNC Symbols for FRG1BP Gene

  • C20orf80
  • FRG1B

Summaries for FRG1BP Gene

GeneCards Summary for FRG1BP Gene

FRG1BP (FSHD Region Gene 1 Family Member B, Pseudogene) is a Pseudogene.

Additional gene information for FRG1BP 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 FRG1BP Gene

Genomics for FRG1BP Gene

GeneHancer (GH) Regulatory Elements for FRG1BP Gene

Promoters and enhancers for FRG1BP 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
GH20I030376 Promoter/Enhancer 1.5 Ensembl ENCODE 550.8 +0.3 266 2.3 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 SP3 SP5 NFYC MXD4 FRG1BP LINC01597 MLLT10P1
GH20I030287 Enhancer 1.1 Ensembl ENCODE 7.8 -87.6 -87617 3.2 HDAC1 PKNOX1 TAF9B RB1 ARNT NFRKB ZFP64 ZSCAN4 ZNF335 TCF12 LINC01597 FRG1BP LOC105372586
GH20I030387 Enhancer 0.6 ENCODE 0.4 +10.8 10774 0.7 SOX5 SOX13 GATAD2A SAP130 MLX HLF RARA ZGPAT NR2F6 SMAD4 FRG1BP MLLT10P1
GH20I030403 Enhancer 0.5 FANTOM5 0.3 +24.8 24843 0 CBX3 BRF2 MYC BCLAF1 MLLT10P1 FRG1BP
GH20I030402 Enhancer 0.5 FANTOM5 0.3 +25.3 25293 0.1 CTCF CBX3 PHB2 CEBPG TCF7L2 MLLT10P1 DEFB116 FRG1BP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRG1BP on UCSC Golden Path with GeneCards custom track

Genomic Locations for FRG1BP Gene

Genomic Locations for FRG1BP Gene
chr20:30,377,203-30,399,331
(GRCh38/hg38)
Size:
22,129 bases
Orientation:
Plus strand
chr20:29,611,857-29,634,010
(GRCh37/hg19)

Genomic View for FRG1BP Gene

Genes around FRG1BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRG1BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRG1BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRG1BP Gene

Proteins for FRG1BP Gene

Post-translational modifications for FRG1BP Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRG1BP Gene

Domains & Families for FRG1BP Gene

Suggested Antigen Peptide Sequences for FRG1BP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains and UniProtKB/Swiss-Prot for FRG1BP Gene

Function for FRG1BP Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FRG1BP Gene

Localization for FRG1BP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FRG1BP gene
Compartment Confidence
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FRG1BP Gene

Pathways & Interactions for FRG1BP Gene

SuperPathways for FRG1BP Gene

No Data Available

Interacting Proteins for FRG1BP Gene

Gene Ontology (GO) - Biological Process for FRG1BP Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FRG1BP Gene

Drugs & Compounds for FRG1BP Gene

No Compound Related Data Available

Transcripts for FRG1BP Gene

mRNA/cDNA for FRG1BP Gene

(1) REFSEQ mRNAs :
(127) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for FRG1BP Gene

No ASD Table

Relevant External Links for FRG1BP Gene

GeneLoc Exon Structure for
FRG1BP
ECgene alternative splicing isoforms for
FRG1BP

Expression for FRG1BP Gene

NURSA nuclear receptor signaling pathways regulating expression of FRG1BP Gene:

FRG1BP

Evidence on tissue expression from TISSUES for FRG1BP Gene

  • Nervous system(2.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRG1BP Gene

Orthologs for FRG1BP Gene

This gene was present in the common ancestor of animals.

Orthologs for FRG1BP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia -- 34
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 51 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii FRG1 34
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6480 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frg-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToMany
Species where no ortholog for FRG1BP 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • mouse (Mus musculus)
  • 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)

Evolution for FRG1BP Gene

ENSEMBL:
Gene Tree for FRG1BP (if available)
TreeFam:
Gene Tree for FRG1BP (if available)

Paralogs for FRG1BP Gene

No data available for Paralogs for FRG1BP Gene

Variants for FRG1BP Gene

Sequence variations from dbSNP and Humsavar for FRG1BP Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000408808 -- 30,381,134(+) A/G intron_variant
rs1000864273 -- 30,387,971(+) G/C intron_variant
rs1001029428 -- 30,377,202(+) C/G upstream_transcript_variant
rs1001081986 -- 30,377,487(+) A/C intron_variant
rs1001227917 -- 30,380,658(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRG1BP Gene

Variant ID Type Subtype PubMed ID
dgv2424e59 CNV duplication 20981092
dgv4296n100 CNV loss 25217958
dgv4297n100 CNV gain 25217958
dgv7548n54 CNV loss 21841781
esv21823 CNV gain+loss 19812545
esv2758791 CNV gain+loss 17122850
nsv1078490 CNV duplication 25765185
nsv1110367 CNV duplication 24896259
nsv1110368 CNV duplication 24896259
nsv1114207 CNV deletion 24896259
nsv1114208 CNV deletion 24896259
nsv1114209 CNV deletion 24896259
nsv1116857 CNV deletion 24896259
nsv1116858 CNV deletion 24896259
nsv1124833 CNV duplication 24896259
nsv1127827 CNV deletion 24896259
nsv1136531 CNV deletion 24896259
nsv1146374 CNV duplication 26484159
nsv1152434 CNV duplication 26484159
nsv1153276 CNV duplication 26484159
nsv428376 CNV gain 18775914
nsv474079 CNV novel sequence insertion 20440878
nsv585870 CNV gain 21841781
nsv585874 CNV loss 21841781
nsv821487 CNV duplication 20802225
nsv828711 CNV gain 20364138
nsv833950 CNV gain 17160897
nsv954018 CNV duplication 24416366
nsv965870 CNV duplication 23825009

Variation tolerance for FRG1BP Gene

Gene Damage Index Score: 4.48; 64.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRG1BP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRG1BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRG1BP Gene

Disorders for FRG1BP Gene

No disorders were found for FRG1BP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRG1BP Gene

Publications for FRG1BP Gene

  1. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58
  4. Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21. (PMID: 19586940) An Q … Strefford JC (Haematologica 2009) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for FRG1BP Gene

Sources for FRG1BP Gene

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