Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017] See more...

Aliases for FAM120AOS Gene

Aliases for FAM120AOS Gene

  • Family With Sequence Similarity 120A Opposite Strand 2 3 5
  • Uncharacterized Protein FAM120AOS 3 4
  • FAM120A Opposite Strand Protein 3 4
  • C9orf10OS 3 4
  • Chromosome 9 Open Reading Frame 10 Opposite Strand 2
  • FAM120AOS 5

External Ids for FAM120AOS Gene

Previous HGNC Symbols for FAM120AOS Gene

  • C9orf10OS

Previous GeneCards Identifiers for FAM120AOS Gene

  • GC09M095242
  • GC09M096208
  • GC09M065886
  • GC09M093446

Summaries for FAM120AOS Gene

Entrez Gene Summary for FAM120AOS Gene

  • Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]

GeneCards Summary for FAM120AOS Gene

FAM120AOS (Family With Sequence Similarity 120A Opposite Strand) is a Protein Coding gene. Diseases associated with FAM120AOS include Gastroesophageal Reflux and Pectus Excavatum.

Additional gene information for FAM120AOS Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM120AOS Gene

Genomics for FAM120AOS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM120AOS 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
GH09J093449 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.3 1307 6.2 CHD2 TBP MXD4 SP1 FEZF1 MNT IKZF1 SMAD5 IRF2 MBD2 FAM120A FAM120AOS lnc-FAM120AOS-3 piR-47534 piR-37751 piR-49068 piR-51756 PHF2 RNU6-829P
GH09J093585 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -136.5 -136521 9.4 MXD4 IKZF1 CTCF ZIC2 ZNF740 VEZF1 SMAD4 SAP130 ZNF341 GABPA RNU6-829P FAM120A FAM120AOS MIR548AU PHF2 BARX1
GH09J093155 Enhancer 0.8 Ensembl dbSUPER 11.3 +297.1 297101 1 BCL11A IRF4 RXRA EBF1 SMARCA5 HLTF BATF IKZF1 MTA3 ATF2 NINJ1 FAM120A FAM120AOS RNU6-829P RF00017-7716 RF00017-7715 RF00017-7717 WNK2
GH09J093500 Enhancer 0.6 ENCODE dbSUPER 11.6 -47.8 -47780 1.2 IRF2 RBM22 ZNF792 IKZF1 ZKSCAN8 IKZF2 FAM120A FAM120AOS RNU6-829P LOC100419516 RF00017-7719 PHF2
GH09J093481 Enhancer 0.6 Ensembl ENCODE dbSUPER 11.7 -26.7 -26700 1.8 CTCF FAM120A FAM120AOS ECM2 LOC100419516 PHF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM120AOS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM120AOS

Top Transcription factor binding sites by QIAGEN in the FAM120AOS gene promoter:
  • GCNF
  • GCNF-1
  • GCNF-2
  • HNF-4alpha1
  • HNF-4alpha2
  • NCX
  • NF-kappaB
  • NF-kappaB1
  • Pax-5
  • RSRFC4

Genomic Locations for FAM120AOS Gene

Latest Assembly
chr9:93,431,441-93,453,601
(GRCh38/hg38)
Size:
22,161 bases
Orientation:
Minus strand

Previous Assembly
chr9:96,205,614-96,215,883
(GRCh37/hg19 by Entrez Gene)
Size:
10,270 bases
Orientation:
Minus strand

chr9:96,208,776-96,215,874
(GRCh37/hg19 by Ensembl)
Size:
7,099 bases
Orientation:
Minus strand

Genomic View for FAM120AOS Gene

Genes around FAM120AOS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM120AOS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM120AOS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM120AOS Gene

Proteins for FAM120AOS Gene

  • Protein details for FAM120AOS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T036-F120S_HUMAN
    Recommended name:
    Uncharacterized protein FAM120AOS
    Protein Accession:
    Q5T036
    Secondary Accessions:
    • A6NN20

    Protein attributes for FAM120AOS Gene

    Size:
    256 amino acids
    Molecular mass:
    27929 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM120AOS Gene

Post-translational modifications for FAM120AOS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM120AOS Gene

No data available for DME Specific Peptides for FAM120AOS Gene

Domains & Families for FAM120AOS Gene

Gene Families for FAM120AOS Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM120AOS Gene

ProtoNet:

Suggested Antigen Peptide Sequences for FAM120AOS Gene

GenScript: Design optimal peptide antigens:
  • Putative FAM120A opposite strand protein (F120S_HUMAN)
  • Family with sequence similarity 120A opposite strand (Q5T038_HUMAN)
  • Family with sequence similarity 120A opposite strand (Q5T039_HUMAN)
genes like me logo Genes that share domains with FAM120AOS: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAM120AOS Gene

Function for FAM120AOS Gene

Phenotypes From GWAS Catalog for FAM120AOS Gene

Gene Ontology (GO) - Molecular Function for FAM120AOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with FAM120AOS: view
genes like me logo Genes that share phenotypes with FAM120AOS: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM120AOS

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM120AOS Gene

Localization for FAM120AOS 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 FAM120AOS gene
Compartment Confidence
nucleus 2
cytosol 2

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 FAM120AOS Gene

Pathways & Interactions for FAM120AOS Gene

PathCards logo

SuperPathways for FAM120AOS Gene

No Data Available

Interacting Proteins for FAM120AOS Gene

Selected Interacting proteins: Q5T036-F120S_HUMAN for FAM120AOS Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for FAM120AOS Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM120AOS Gene

Drugs & Compounds for FAM120AOS Gene

No Compound Related Data Available

Transcripts for FAM120AOS Gene

mRNA/cDNA for FAM120AOS Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM120AOS

Alternative Splicing Database (ASD) splice patterns (SP) for FAM120AOS Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - -
SP2: -
SP3: - -
SP4: - - - - - - -
SP5: - - -
SP6: - -
SP7: - - -
SP8:

Relevant External Links for FAM120AOS Gene

GeneLoc Exon Structure for
FAM120AOS

Expression for FAM120AOS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM120AOS Gene

Protein differential expression in normal tissues from HIPED for FAM120AOS Gene

This gene is overexpressed in Adipocyte (62.1) and Bone marrow mesenchymal stem cell (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM120AOS Gene



Protein tissue co-expression partners for FAM120AOS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM120AOS

SOURCE GeneReport for Unigene cluster for FAM120AOS Gene:

Hs.350364

Evidence on tissue expression from TISSUES for FAM120AOS Gene

  • Nervous system(2.8)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with FAM120AOS: view

Primer products for research

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 FAM120AOS Gene

Orthologs for FAM120AOS Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for FAM120AOS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM120AOS 30 31
  • 99.74 (n)
OneToOne
Species where no ortholog for FAM120AOS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Zebrafish (Danio rerio)

Evolution for FAM120AOS Gene

ENSEMBL:
Gene Tree for FAM120AOS (if available)
TreeFam:
Gene Tree for FAM120AOS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM120AOS: view image

Paralogs for FAM120AOS Gene

No data available for Paralogs for FAM120AOS Gene

Variants for FAM120AOS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM120AOS Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs140119177 Likely Pathogenic: Coarse facial features; Pectus excavatum; Cutis laxa; Muscular hypotonia; Gastroesophageal reflux; Scoliosis; Chronic lung disease; Hyperactive airways; Bilateral undescended testicles 93,447,639(-) G/A
NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs776648143 Likely Benign: not provided 93,452,439(-) CT/C
NM_198841.4(FAM120AOS):c.270del (p.Ile90fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs1055710 - p.Leu22Phe
rs10821128 - p.Lys241Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM120AOS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FAM120AOS Gene

Variant ID Type Subtype PubMed ID
esv2672054 CNV deletion 23128226
esv2738783 CNV deletion 23290073
esv2738785 CNV deletion 23290073
esv3621099 CNV loss 21293372
nsv1075663 CNV deletion 25765185
nsv1124450 CNV deletion 24896259
nsv950899 CNV duplication 24416366

Variation tolerance for FAM120AOS Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM120AOS Gene

Human Gene Mutation Database (HGMD)
FAM120AOS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM120AOS

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM120AOS Gene

Disorders for FAM120AOS Gene

MalaCards: The human disease database

(5) MalaCards diseases for FAM120AOS Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
gastroesophageal reflux
  • ger
pectus excavatum
  • funnel chest
cutis laxa
  • loose skin
scoliosis
cohen syndrome
  • coh1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM120AOS

genes like me logo Genes that share disorders with FAM120AOS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM120AOS Gene

Publications for FAM120AOS Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. (PMID: 14585507) Holden S … Raymond FL (Gene 2003) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3
  5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3

Products for FAM120AOS Gene

Sources for FAM120AOS Gene