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Aliases for C9orf139 Gene

Aliases for C9orf139 Gene

  • Chromosome 9 Open Reading Frame 139 2 3 5

External Ids for C9orf139 Gene

Previous GeneCards Identifiers for C9orf139 Gene

  • GC09P139041
  • GC09P139921
  • GC09P109381

Summaries for C9orf139 Gene

GeneCards Summary for C9orf139 Gene

C9orf139 (Chromosome 9 Open Reading Frame 139) is a Protein Coding gene.

Additional gene information for C9orf139 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 C9orf139 Gene

Genomics for C9orf139 Gene

GeneHancer (GH) Regulatory Elements for C9orf139 Gene

Promoters and enhancers for C9orf139 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
GH09I136990 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 12 -31.4 -31449 10.9 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B PAXX CLIC3 LCN12 ABCA2 PRR31 C9orf139 INPP5E LCNL1 RABL6 CCDC183
GH09I136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.4 -141.2 -141189 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 LOC105376326 MIR4479 TRAF2 EHMT1 SDCCAG3 ANAPC2 PHPT1 SNHG7 LOC651337 MAMDC4
GH09I136881 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.4 -144.8 -144802 2.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS TRAF2 PHPT1 MAMDC4 AJM1 TMEM141 LCN12 PRR31 C8G FBXW5 RABL6
GH09I137156 Enhancer 0.8 ENCODE 11 +129.5 129534 1.2 KLF1 MZF1 ZNF2 ZNF324 ZFHX2 GLIS2 POLR2A EGR1 PATZ1 VEZF1 LOC105376328 MAN1B1 ANAPC2 SSNA1 TPRN DPP7 TMEM203 NDOR1 ABCA2 C9orf139
GH09I137025 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 0.8 +3.1 3125 10.8 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B IRF4 ZNF766 FUT7 ABCA2 SNHG7 EHMT1 SEC16A SDCCAG3 DPH7 ANAPC2 NDOR1 MAN1B1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C9orf139 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf139 gene promoter:

Genomic Locations for C9orf139 Gene

Genomic Locations for C9orf139 Gene
chr9:137,027,464-137,037,957
(GRCh38/hg38)
Size:
10,494 bases
Orientation:
Plus strand
chr9:139,921,916-139,931,234
(GRCh37/hg19)

Genomic View for C9orf139 Gene

Genes around C9orf139 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf139 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf139 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf139 Gene

Proteins for C9orf139 Gene

  • Protein details for C9orf139 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZV77-CI139_HUMAN
    Recommended name:
    Uncharacterized protein C9orf139
    Protein Accession:
    Q6ZV77
    Secondary Accessions:
    • A2RUA3
    • B9EGW2
    • Q5SPY0
    • Q8N224

    Protein attributes for C9orf139 Gene

    Size:
    190 amino acids
    Molecular mass:
    20001 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04202.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C9orf139 Gene

Post-translational modifications for C9orf139 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf139 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for C9orf139 Gene

Domains & Families for C9orf139 Gene

Protein Domains for C9orf139 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf139: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf139 Gene

Function for C9orf139 Gene

Phenotypes From GWAS Catalog for C9orf139 Gene

genes like me logo Genes that share phenotypes with C9orf139: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf139 Gene

Localization for C9orf139 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 C9orf139 gene
Compartment Confidence
extracellular 2
mitochondrion 1
nucleus 1
cytosol 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 C9orf139 Gene

Pathways & Interactions for C9orf139 Gene

SuperPathways for C9orf139 Gene

No Data Available

Interacting Proteins for C9orf139 Gene

Gene Ontology (GO) - Biological Process for C9orf139 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf139 Gene

Drugs & Compounds for C9orf139 Gene

No Compound Related Data Available

Transcripts for C9orf139 Gene

mRNA/cDNA for C9orf139 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C9orf139 Gene

Chromosome 9 open reading frame 139:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf139 Gene

No ASD Table

Relevant External Links for C9orf139 Gene

GeneLoc Exon Structure for
C9orf139
ECgene alternative splicing isoforms for
C9orf139

Expression for C9orf139 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf139 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf139 Gene

This gene is overexpressed in Whole Blood (x23.3) and Spleen (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of C9orf139 Gene:

C9orf139

SOURCE GeneReport for Unigene cluster for C9orf139 Gene:

Hs.522509
genes like me logo Genes that share expression patterns with C9orf139: view

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 C9orf139 Gene

Orthologs for C9orf139 Gene

Evolution for C9orf139 Gene

ENSEMBL:
Gene Tree for C9orf139 (if available)
TreeFam:
Gene Tree for C9orf139 (if available)

No data available for Orthologs for C9orf139 Gene

Paralogs for C9orf139 Gene

No data available for Paralogs for C9orf139 Gene

Variants for C9orf139 Gene

Sequence variations from dbSNP and Humsavar for C9orf139 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000008365 -- 137,027,747(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000227654 -- 137,032,851(+) T/C 5_prime_UTR_variant, non_coding_transcript_variant
rs1000249699 -- 137,038,011(+) G/A downstream_transcript_variant
rs1000324 -- 137,033,913(+) G/A intron_variant
rs1000940518 -- 137,030,164(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf139 Gene

Variant ID Type Subtype PubMed ID
dgv13007n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
esv2761561 CNV gain 21179565
esv3332181 CNV duplication 20981092
nsv1077200 CNV deletion 25765185
nsv1113023 CNV deletion 24896259
nsv1119617 CNV deletion 24896259
nsv469918 CNV loss 18288195
nsv513004 CNV insertion 21212237
nsv524322 CNV loss 19592680
nsv616004 CNV loss 21841781
nsv616005 CNV loss 21841781
nsv951206 CNV deletion 24416366

Variation tolerance for C9orf139 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf139 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf139

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf139 Gene

Disorders for C9orf139 Gene

Additional Disease Information for C9orf139

No disorders were found for C9orf139 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf139 Gene

Publications for C9orf139 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 58
  4. 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
  5. 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) 3 58

Products for C9orf139 Gene

Sources for C9orf139 Gene

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