Aliases for C7orf50 Gene

Aliases for C7orf50 Gene

  • Chromosome 7 Open Reading Frame 50 2 3 5
  • Uncharacterized Protein C7orf50 3 4
  • YCR016W 3

External Ids for C7orf50 Gene

Previous GeneCards Identifiers for C7orf50 Gene

  • GC07M001004
  • GC07M001036

Summaries for C7orf50 Gene

GeneCards Summary for C7orf50 Gene

C7orf50 (Chromosome 7 Open Reading Frame 50) is a Protein Coding gene. Diseases associated with C7orf50 include Fibrolamellar Carcinoma.

Additional gene information for C7orf50 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 C7orf50 Gene

Genomics for C7orf50 Gene

GeneHancer (GH) Regulatory Elements for C7orf50 Gene

Promoters and enhancers for C7orf50 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 C7orf50 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C7orf50

Top Transcription factor binding sites by QIAGEN in the C7orf50 gene promoter:
  • AML1a
  • c-Rel
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • En-1
  • GATA-3
  • HNF-3beta
  • LUN-1
  • NCX

Genomic Locations for C7orf50 Gene

Genomic Locations for C7orf50 Gene
chr7:978,498-1,138,275
(GRCh38/hg38)
Size:
159,778 bases
Orientation:
Minus strand
chr7:1,036,622-1,177,896
(GRCh37/hg19)
Size:
141,275 bases
Orientation:
Minus strand

Genomic View for C7orf50 Gene

Genes around C7orf50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C7orf50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C7orf50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C7orf50 Gene

Proteins for C7orf50 Gene

  • Protein details for C7orf50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRJ6-CG050_HUMAN
    Recommended name:
    Uncharacterized protein C7orf50
    Protein Accession:
    Q9BRJ6

    Protein attributes for C7orf50 Gene

    Size:
    194 amino acids
    Molecular mass:
    22083 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C7orf50 Gene

Post-translational modifications for C7orf50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C7orf50 Gene

Domains & Families for C7orf50 Gene

Gene Families for C7orf50 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C7orf50 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C7orf50 Gene

GenScript: Design optimal peptide antigens:
  • HCG1993407 (Q8TAS9_HUMAN)
genes like me logo Genes that share domains with C7orf50: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C7orf50 Gene

Function for C7orf50 Gene

Phenotypes From GWAS Catalog for C7orf50 Gene

Gene Ontology (GO) - Molecular Function for C7orf50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C7orf50: view
genes like me logo Genes that share phenotypes with C7orf50: view

Animal Model Products

CRISPR Products

miRNA for C7orf50 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C7orf50 Gene

Localization for C7orf50 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 C7orf50 gene
Compartment Confidence
nucleus 4
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C7orf50 Gene

Pathways & Interactions for C7orf50 Gene

PathCards logo

SuperPathways for C7orf50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C7orf50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C7orf50 Gene

Drugs & Compounds for C7orf50 Gene

No Compound Related Data Available

Transcripts for C7orf50 Gene

mRNA/cDNA for C7orf50 Gene

7 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C7orf50 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - - - - - - -
SP5: - - - - - - -
SP6: -
SP7:

Relevant External Links for C7orf50 Gene

GeneLoc Exon Structure for
C7orf50

Expression for C7orf50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C7orf50 Gene

Protein differential expression in normal tissues from HIPED for C7orf50 Gene

This gene is overexpressed in Lung (57.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C7orf50 Gene



Protein tissue co-expression partners for C7orf50 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C7orf50

SOURCE GeneReport for Unigene cluster for C7orf50 Gene:

Hs.653258

Evidence on tissue expression from TISSUES for C7orf50 Gene

  • Lung(4.5)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with C7orf50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C7orf50 Gene

Orthologs for C7orf50 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for C7orf50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf50 30
  • 97.57 (n)
C7orf50 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C6H7orf50 30
  • 78.76 (n)
C7orf50 31
  • 50 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C25H7orf50 30
  • 76.09 (n)
C25H7ORF50 31
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC498154 30
  • 74.23 (n)
mouse
(Mus musculus)
Mammalia 3110082I17Rik 17 31 30
  • 73.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf50 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7ORF50 30
  • 67.84 (n)
C7orf50 31
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C7orf50 31
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C7orf50 31
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 33
Species where no ortholog for C7orf50 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 C7orf50 Gene

ENSEMBL:
Gene Tree for C7orf50 (if available)
TreeFam:
Gene Tree for C7orf50 (if available)

Paralogs for C7orf50 Gene

No data available for Paralogs for C7orf50 Gene

Variants for C7orf50 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C7orf50 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
770179 Benign: not provided 1,091,742(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
770731 Benign: not provided 1,057,638(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
773473 Benign: not provided 1,057,959(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
785204 Benign: not provided 986,749(-) G/A SYNONYMOUS_VARIANT
791281 Benign: not provided 987,371(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for C7orf50 Gene

Structural Variations from Database of Genomic Variants (DGV) for C7orf50 Gene

Variant ID Type Subtype PubMed ID
dgv1061e201 CNV deletion 23290073
dgv11116n54 CNV loss 21841781
dgv11117n54 CNV gain+loss 21841781
dgv11118n54 CNV loss 21841781
dgv11119n54 CNV loss 21841781
dgv3466n106 CNV deletion 24896259
esv1030117 CNV deletion 17803354
esv1168586 CNV deletion 17803354
esv1257857 CNV insertion 17803354
esv1298174 CNV insertion 17803354
esv2067416 CNV deletion 18987734
esv2398682 CNV deletion 18987734
esv25014 CNV loss 19812545
esv2660257 CNV deletion 23128226
esv2662781 CNV deletion 23128226
esv2676489 CNV deletion 23128226
esv2733699 CNV deletion 23290073
esv2733700 CNV deletion 23290073
esv2733701 CNV deletion 23290073
esv2733702 CNV deletion 23290073
esv2733703 CNV deletion 23290073
esv2733704 CNV deletion 23290073
esv2733705 CNV deletion 23290073
esv2733707 CNV deletion 23290073
esv2733708 CNV deletion 23290073
esv2733709 CNV deletion 23290073
esv2733710 CNV deletion 23290073
esv2733711 CNV deletion 23290073
esv2733712 CNV deletion 23290073
esv2733713 CNV deletion 23290073
esv2733714 CNV deletion 23290073
esv2733715 CNV deletion 23290073
esv2733716 CNV deletion 23290073
esv2733718 CNV deletion 23290073
esv2733720 CNV deletion 23290073
esv2733722 CNV deletion 23290073
esv2733724 CNV deletion 23290073
esv2733725 CNV deletion 23290073
esv2741488 CNV deletion 23290073
esv28196 CNV loss 19812545
esv29179 CNV gain+loss 19812545
esv3358483 CNV duplication 20981092
esv3541008 CNV deletion 23714750
esv3541009 CNV deletion 23714750
esv3541010 CNV deletion 23714750
esv3541013 CNV deletion 23714750
esv3541014 CNV deletion 23714750
esv3541015 CNV deletion 23714750
esv3571559 CNV loss 25503493
esv3611797 CNV loss 21293372
esv3611799 CNV loss 21293372
esv988130 CNV deletion 20482838
nsv1024118 CNV gain 25217958
nsv1028282 CNV gain 25217958
nsv1028941 CNV gain 25217958
nsv1032992 CNV gain 25217958
nsv1074055 CNV deletion 25765185
nsv1074056 CNV deletion 25765185
nsv1074991 CNV deletion 25765185
nsv1074992 CNV deletion 25765185
nsv1074994 CNV deletion 25765185
nsv1109414 CNV deletion 24896259
nsv1112915 CNV deletion 24896259
nsv1117455 CNV tandem duplication 24896259
nsv1119099 CNV deletion 24896259
nsv1122152 CNV deletion 24896259
nsv1124157 CNV deletion 24896259
nsv1128296 CNV deletion 24896259
nsv1129777 CNV tandem duplication 24896259
nsv1135975 CNV deletion 24896259
nsv1137184 CNV deletion 24896259
nsv1142482 CNV tandem duplication 24896259
nsv1146386 CNV deletion 26484159
nsv1147907 CNV deletion 26484159
nsv1161477 CNV deletion 26073780
nsv365634 CNV deletion 16902084
nsv365945 CNV deletion 16902084
nsv464245 CNV gain 19166990
nsv476637 CNV novel sequence insertion 20440878
nsv508441 CNV deletion 20534489
nsv509182 CNV insertion 20534489
nsv509183 CNV insertion 20534489
nsv511938 CNV loss 21212237
nsv522801 CNV loss 19592680
nsv5612 CNV insertion 18451855
nsv605699 CNV loss 21841781
nsv605700 CNV gain 21841781
nsv605705 CNV loss 21841781
nsv605720 CNV loss 21841781
nsv605721 CNV loss 21841781
nsv605735 CNV gain 21841781
nsv8027 CNV gain+loss 18304495
nsv820743 CNV deletion 20802225
nsv823959 CNV loss 20364138
nsv823960 CNV gain 20364138
nsv830876 CNV loss 17160897
nsv950784 CNV deletion 24416366

Variation tolerance for C7orf50 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C7orf50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C7orf50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C7orf50 Gene

Disorders for C7orf50 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C7orf50 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fibrolamellar carcinoma
  • fibrolamellar hepatocellular carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C7orf50

genes like me logo Genes that share disorders with C7orf50: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C7orf50 Gene

Publications for C7orf50 Gene

  1. Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 41 54
  2. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  5. Interactome and Proteome Dynamics Uncover Immune Modulatory Associations of the Pathogen Sensing Factor cGAS. (PMID: 30471916) Lum KK … Cristea IM (Cell systems 2018) 3 54

Products for C7orf50 Gene

Sources for C7orf50 Gene