C9orf147 Gene (Protein Coding)

Chromosome 9 Putative Open Reading Frame 147

GC09M112400
GIFtS:
17
See more...

Aliases for C9orf147 Gene

Aliases for C9orf147 Gene

  • Chromosome 9 Putative Open Reading Frame 147 2 3 5
  • Uncharacterized Protein LOC100133204 3
  • Chromosome 9 Open Reading Frame 147 2
  • NONHSAG053217.2 91
  • HSALNG0073772 164
  • HSALNG0073771 164
  • Lnc-PTBP3-8 165
  • BA32M23.3 2
  • C9orf147 5

External Ids for C9orf147 Gene

Previous GeneCards Identifiers for C9orf147 Gene

  • GC09U900870
  • GC09M114286
  • GC09M115241
  • GC09M115198
  • GC09M112433

Summaries for C9orf147 Gene

GeneCards Summary for C9orf147 Gene

C9orf147 (Chromosome 9 Putative Open Reading Frame 147) is a Protein Coding gene. Diseases associated with C9orf147 include Adrenal Medulla Cancer.

Additional gene information for C9orf147 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 C9orf147 Gene

Genomics for C9orf147 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for C9orf147 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
GH09J112485 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -1.0 -1038 6.6 ZSCAN16 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA MNT SMAD5 ETS1 C9orf147 HSALNG0073775 KIAA1958 HSDL2 INIP ENSG00000226609 SNX30 piR-39663-002
GH09J112793 Enhancer 0.9 Ensembl ENCODE 11.2 -305.3 -305260 1.4 ZNF217 CTCF REST MAX VEZF1 IRF4 TRIM22 SAP130 SMC3 RAD21 ENSG00000226609 SNX30 INIP C9orf147 KIAA1958 piR-52680-369 RF00017-7833 SLC46A2
GH09J112447 Enhancer 0.8 Ensembl ENCODE 12.1 +41.0 41043 3.6 IKZF1 VEZF1 ZEB2 ZFP91 ZNF316 NFE2 FOXK2 ZNF384 MEIS2 DPF2 HSDL2 C9orf147 KIAA1958 INIP ENSG00000226609 SNX30 SUSD1 HSALNG0073773 piR-41306-268
GH09J112785 Enhancer 0.7 Ensembl ENCODE 11.2 -301.0 -300957 5.6 IKZF1 CUX1 CTBP1 RAD51 JUND DPF2 USF2 CEBPB CTCF SLC46A2 ENSG00000226609 SNX30 INIP C9orf147 KIAA1958 piR-52680-369 RF00017-7833
GH09J112794 Enhancer 0.4 Ensembl 11.2 -308.2 -308157 2 CEBPG CEBPB ZSCAN4 ENSG00000226609 SNX30 INIP C9orf147 KIAA1958 piR-52680-369 RF00017-7833 SLC46A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf147 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C9orf147

Top Transcription factor binding sites by QIAGEN in the C9orf147 gene promoter:
  • AML1a
  • C/EBPalpha
  • FOXD1
  • HNF-3beta
  • Pax-6
  • POU2F1
  • POU2F1a
  • RORalpha1
  • XBP-1

Genomic Locations for C9orf147 Gene

Latest Assembly
chr9:112,399,512-112,487,644
(GRCh38/hg38)
Size:
88,133 bases
Orientation:
Minus strand

Previous Assembly
chr9:115,214,078-115,249,924
(GRCh37/hg19 by Entrez Gene)
Size:
35,847 bases
Orientation:
Minus strand

chr9:115,196,096-115,249,484
(GRCh37/hg19 by Ensembl)
Size:
53,389 bases
Orientation:
Minus strand

Genomic View for C9orf147 Gene

Genes around C9orf147 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf147 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf147 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for C9orf147 Gene

Proteins for C9orf147 Gene

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Post-translational modifications for C9orf147 Gene

No Post-translational modifications

Other Protein References for C9orf147 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for C9orf147 Gene

Domains & Families for C9orf147 Gene

Suggested Antigen Peptide Sequences for C9orf147 Gene

GenScript: Design optimal peptide antigens:
  • Chromosome 9 open reading frame 147 (A2A387_HUMAN)

No data available for Gene Families , Protein Domains , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C9orf147 Gene

Function for C9orf147 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for C9orf147 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf147 Gene

Localization for C9orf147 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C9orf147 Gene

Pathways & Interactions for C9orf147 Gene

PathCards logo

SuperPathways for C9orf147 Gene

No Data Available

Interacting Proteins for C9orf147 Gene

Gene Ontology (GO) - Biological Process for C9orf147 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf147 Gene

Drugs & Compounds for C9orf147 Gene

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No Compound Related Data Available

Transcripts for C9orf147 Gene

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mRNA/cDNA for C9orf147 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
14 RNACentral transcripts :
6 NONCODE transcripts :
7 LncBook transcripts :
6 LNCipedia transcripts :

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf147 Gene

No ASD Table

Relevant External Links for C9orf147 Gene

GeneLoc Exon Structure for
C9orf147

Expression for C9orf147 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C9orf147 Gene

mRNA expression in normal human tissues for C9orf147 Gene
mRNA expression by GTEx for C9orf147 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf147 Gene

This gene is overexpressed in Stomach (x15.2), Adrenal Gland (x6.8), and Ovary (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C9orf147

SOURCE GeneReport for Unigene cluster for C9orf147 Gene:

Hs.662552
genes like me logo Genes that share expression patterns with C9orf147: 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 C9orf147 Gene

Orthologs for C9orf147 Gene

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

Orthologs for C9orf147 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia C9orf147 31
  • 98 (a)
 OneToOne
Species where no ortholog for C9orf147 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 C9orf147 Gene

ENSEMBL:
Gene Tree for C9orf147 (if available)
TreeFam:
Gene Tree for C9orf147 (if available)

Paralogs for C9orf147 Gene

No data available for Paralogs for C9orf147 Gene

Variants for C9orf147 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C9orf147 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs3739696 Benign: not provided 112,454,041(-) A/G
NM_032303.5(HSDL2):c.894A>G (p.Lys298=) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C9orf147 Gene

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

Additional Variant Information for C9orf147 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf147

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for C9orf147 Gene

Disorders for C9orf147 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C9orf147 Gene - From: COP

Disorder Aliases PubMed IDs
adrenal medulla cancer
  • adrenal medulla neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C9orf147

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C9orf147: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C9orf147 Gene

Publications for C9orf147 Gene

No publications were found for C9orf147 Gene.

ExternalLinks

View latest publications for C9orf147 gene in Mastermind

Products for C9orf147 Gene

Sources for C9orf147 Gene