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C1orf43 (chromosome 1 open reading frame 43)

Identity

Alias_symbol (synonym)NICE-3
DKFZp586G1722
Other aliasHSPC012
NICE3
NS5ATP4
S863-3
HGNC (Hugo) C1orf43
LocusID (NCBI) 25912
Atlas_Id 53449
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 154206701 and ends at 154220797 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C1orf43 (1q21.3) / SCAMP3 (1q22)RNF149 (2q11.2) / C1orf43 (1q21.3)RP2 (Xp11.23) / C1orf43 (1q21.3)
RPL35 (9q33.3) / C1orf43 (1q21.3)TPM3 (1q21.3) / C1orf43 (1q21.3)RP2 Xp11.23 / C1orf43 1q21.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)C1orf43   29876
Cards
Entrez_Gene (NCBI)C1orf43  25912  chromosome 1 open reading frame 43
AliasesHSPC012; NICE-3; NICE3; NS5ATP4; 
S863-3
GeneCards (Weizmann)C1orf43
Ensembl hg19 (Hinxton)ENSG00000143612 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143612 [Gene_View]  chr1:154206701-154220797 [Contig_View]  C1orf43 [Vega]
ICGC DataPortalENSG00000143612
TCGA cBioPortalC1orf43
AceView (NCBI)C1orf43
Genatlas (Paris)C1orf43
WikiGenes25912
SOURCE (Princeton)C1orf43
Genetics Home Reference (NIH)C1orf43
Genomic and cartography
GoldenPath hg38 (UCSC)C1orf43  -     chr1:154206701-154220797 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C1orf43  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblC1orf43 - 1q21.3 [CytoView hg19]  C1orf43 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIC1orf43 [Mapview hg19]  C1orf43 [Mapview hg38]
OMIM617428   
Gene and transcription
Genbank (Entrez)AF077036 AF109185 AF529365 AJ243663 AJ243664
RefSeq transcript (Entrez)NM_001098616 NM_001297717 NM_001297718 NM_001297720 NM_001297721 NM_001297723 NM_015449 NM_138740
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C1orf43
Cluster EST : UnigeneHs.287471 [ NCBI ]
CGAP (NCI)Hs.287471
Alternative Splicing GalleryENSG00000143612
Gene ExpressionC1orf43 [ NCBI-GEO ]   C1orf43 [ EBI - ARRAY_EXPRESS ]   C1orf43 [ SEEK ]   C1orf43 [ MEM ]
Gene Expression Viewer (FireBrowse)C1orf43 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25912
GTEX Portal (Tissue expression)C1orf43
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BWL3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BWL3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BWL3
Splice isoforms : SwissVarQ9BWL3
PhosPhoSitePlusQ9BWL3
Domains : Interpro (EBI)6PGD_dom_2    NICE-3_prd   
Domain families : Pfam (Sanger)NICE-3 (PF07406)   
Domain families : Pfam (NCBI)pfam07406   
Domain structure : Prodom (Prabi Lyon)NICE-3 (PD320812)   
Conserved Domain (NCBI)C1orf43
DMDM Disease mutations25912
Blocks (Seattle)C1orf43
SuperfamilyQ9BWL3
Human Protein AtlasENSG00000143612
Peptide AtlasQ9BWL3
HPRD16636
IPIIPI00032413   IPI00034322   IPI00607603   IPI00397901   IPI00978776   IPI00607618   IPI00641611   
Protein Interaction databases
DIP (DOE-UCLA)Q9BWL3
IntAct (EBI)Q9BWL3
FunCoupENSG00000143612
BioGRIDC1orf43
STRING (EMBL)C1orf43
ZODIACC1orf43
Ontologies - Pathways
QuickGOQ9BWL3
Ontology : AmiGOintegral component of membrane  oxidoreductase activity  oxidation-reduction process  
Ontology : EGO-EBIintegral component of membrane  oxidoreductase activity  oxidation-reduction process  
NDEx NetworkC1orf43
Atlas of Cancer Signalling NetworkC1orf43
Wikipedia pathwaysC1orf43
Orthology - Evolution
OrthoDB25912
GeneTree (enSembl)ENSG00000143612
Phylogenetic Trees/Animal Genes : TreeFamC1orf43
HOVERGENQ9BWL3
HOGENOMQ9BWL3
Homologs : HomoloGeneC1orf43
Homology/Alignments : Family Browser (UCSC)C1orf43
Gene fusions - Rearrangements
Fusion : MitelmanRP2/C1orf43 [Xp11.23/1q21.3]  [t(X;1)(p11;q21)]  
Fusion: TCGARP2 Xp11.23 C1orf43 1q21.3 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1orf43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1orf43
dbVarC1orf43
ClinVarC1orf43
1000_GenomesC1orf43 
Exome Variant ServerC1orf43
ExAC (Exome Aggregation Consortium)C1orf43 (select the gene name)
Genetic variants : HAPMAP25912
Genomic Variants (DGV)C1orf43 [DGVbeta]
DECIPHERC1orf43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC1orf43 
Mutations
ICGC Data PortalC1orf43 
TCGA Data PortalC1orf43 
Broad Tumor PortalC1orf43
OASIS PortalC1orf43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1orf43  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1orf43
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C1orf43
DgiDB (Drug Gene Interaction Database)C1orf43
DoCM (Curated mutations)C1orf43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1orf43 (select a term)
intoGenC1orf43
Cancer3DC1orf43(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617428   
Orphanet
MedgenC1orf43
Genetic Testing Registry C1orf43
NextProtQ9BWL3 [Medical]
TSGene25912
GENETestsC1orf43
Huge Navigator C1orf43 [HugePedia]
snp3D : Map Gene to Disease25912
BioCentury BCIQC1orf43
ClinGenC1orf43
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25912
Chemical/Pharm GKB GenePA134961848
Clinical trialC1orf43
Miscellaneous
canSAR (ICR)C1orf43 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1orf43
EVEXC1orf43
GoPubMedC1orf43
iHOPC1orf43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:08:17 CEST 2017

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