Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C19orf12 (chromosome 19 open reading frame 12)

Identity

Alias_namesSPG43
spastic paraplegia 43 (autosomal recessive)
Alias_symbol (synonym)MGC10922
DKFZP762D096
NBIA4
Other aliasNBIA3
HGNC (Hugo) C19orf12
LocusID (NCBI) 83636
Atlas_Id 61021
Location 19q12  [Link to chromosome band 19q12]
Location_base_pair Starts at 30189793 and ends at 30205963 bp from pter ( according to hg19-Feb_2009)

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)C19orf12   25443
Cards
Entrez_Gene (NCBI)C19orf12  83636  chromosome 19 open reading frame 12
AliasesNBIA3; NBIA4; SPG43
GeneCards (Weizmann)C19orf12
Ensembl hg19 (Hinxton)ENSG00000131943 [Gene_View]  chr19:30189793-30205963 [Contig_View]  C19orf12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131943 [Gene_View]  chr19:30189793-30205963 [Contig_View]  C19orf12 [Vega]
ICGC DataPortalENSG00000131943
TCGA cBioPortalC19orf12
AceView (NCBI)C19orf12
Genatlas (Paris)C19orf12
WikiGenes83636
SOURCE (Princeton)C19orf12
Genetics Home Reference (NIH)C19orf12
Genomic and cartography
GoldenPath hg19 (UCSC)C19orf12  -     chr19:30189793-30205963 -  19q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C19orf12  -     19q12   [Description]    (hg38-Dec_2013)
EnsemblC19orf12 - 19q12 [CytoView hg19]  C19orf12 - 19q12 [CytoView hg38]
Mapping of homologs : NCBIC19orf12 [Mapview hg19]  C19orf12 [Mapview hg38]
OMIM614297   614298   615043   
Gene and transcription
Genbank (Entrez)AK057185 AL162066 BC004957 BC009946 BC017211
RefSeq transcript (Entrez)NM_001031726 NM_001256046 NM_001256047 NM_001282929 NM_001282930 NM_001282931 NM_031448
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_031970 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)C19orf12
Cluster EST : UnigeneHs.529094 [ NCBI ]
CGAP (NCI)Hs.529094
Alternative Splicing GalleryENSG00000131943
Gene ExpressionC19orf12 [ NCBI-GEO ]   C19orf12 [ EBI - ARRAY_EXPRESS ]   C19orf12 [ SEEK ]   C19orf12 [ MEM ]
Gene Expression Viewer (FireBrowse)C19orf12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83636
GTEX Portal (Tissue expression)C19orf12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NSK7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NSK7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NSK7
Splice isoforms : SwissVarQ9NSK7
PhosPhoSitePlusQ9NSK7
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C19orf12
DMDM Disease mutations83636
Blocks (Seattle)C19orf12
SuperfamilyQ9NSK7
Human Protein AtlasENSG00000131943
Peptide AtlasQ9NSK7
HPRD12696
IPIIPI00016109   IPI00396521   IPI00872384   IPI00784237   IPI00748765   
Protein Interaction databases
DIP (DOE-UCLA)Q9NSK7
IntAct (EBI)Q9NSK7
FunCoupENSG00000131943
BioGRIDC19orf12
STRING (EMBL)C19orf12
ZODIACC19orf12
Ontologies - Pathways
QuickGOQ9NSK7
Ontology : AmiGOmitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  mitochondrial membrane  
Ontology : EGO-EBImitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  integral component of membrane  mitochondrial membrane  
NDEx NetworkC19orf12
Atlas of Cancer Signalling NetworkC19orf12
Wikipedia pathwaysC19orf12
Orthology - Evolution
OrthoDB83636
GeneTree (enSembl)ENSG00000131943
Phylogenetic Trees/Animal Genes : TreeFamC19orf12
HOVERGENQ9NSK7
HOGENOMQ9NSK7
Homologs : HomoloGeneC19orf12
Homology/Alignments : Family Browser (UCSC)C19orf12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC19orf12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C19orf12
dbVarC19orf12
ClinVarC19orf12
1000_GenomesC19orf12 
Exome Variant ServerC19orf12
ExAC (Exome Aggregation Consortium)C19orf12 (select the gene name)
Genetic variants : HAPMAP83636
Genomic Variants (DGV)C19orf12 [DGVbeta]
DECIPHER (Syndromes)19:30189793-30205963  ENSG00000131943
CONAN: Copy Number AnalysisC19orf12 
Mutations
ICGC Data PortalC19orf12 
TCGA Data PortalC19orf12 
Broad Tumor PortalC19orf12
OASIS PortalC19orf12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC19orf12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC19orf12
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch C19orf12
DgiDB (Drug Gene Interaction Database)C19orf12
DoCM (Curated mutations)C19orf12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C19orf12 (select a term)
intoGenC19orf12
Cancer3DC19orf12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614297    614298    615043   
Orphanet
MedgenC19orf12
Genetic Testing Registry C19orf12
NextProtQ9NSK7 [Medical]
TSGene83636
GENETestsC19orf12
Huge Navigator C19orf12 [HugePedia]
snp3D : Map Gene to Disease83636
BioCentury BCIQC19orf12
ClinGenC19orf12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83636
Chemical/Pharm GKB GenePA134981038
Clinical trialC19orf12
Miscellaneous
canSAR (ICR)C19orf12 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC19orf12
EVEXC19orf12
GoPubMedC19orf12
iHOPC19orf12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:56:48 CET 2017

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