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SPEG (SPEG complex locus)

Identity

Alias_namesAPEG1
aortic preferentially expressed gene 1
Alias_symbol (synonym)MGC12676
KIAA1297
SPEGalpha
SPEGbeta
BPEG
Other aliasAPEG-1
CNM5
HGNC (Hugo) SPEG
LocusID (NCBI) 10290
Atlas_Id 56308
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 219460812 and ends at 219466862 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GGT7 (20q11.22) / SPEG (2q35)SPEG (2q35) / ZNF622 (5p15.1)

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)SPEG   16901
Cards
Entrez_Gene (NCBI)SPEG  10290  SPEG complex locus
AliasesAPEG-1; APEG1; BPEG; CNM5; 
SPEGalpha; SPEGbeta
GeneCards (Weizmann)SPEG
Ensembl hg19 (Hinxton)ENSG00000072195 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072195 [Gene_View]  chr2:219460812-219466862 [Contig_View]  SPEG [Vega]
ICGC DataPortalENSG00000072195
TCGA cBioPortalSPEG
AceView (NCBI)SPEG
Genatlas (Paris)SPEG
WikiGenes10290
SOURCE (Princeton)SPEG
Genetics Home Reference (NIH)SPEG
Genomic and cartography
GoldenPath hg38 (UCSC)SPEG  -     chr2:219460812-219466862 +  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPEG  -     2q35   [Description]    (hg19-Feb_2009)
EnsemblSPEG - 2q35 [CytoView hg19]  SPEG - 2q35 [CytoView hg38]
Mapping of homologs : NCBISPEG [Mapview hg19]  SPEG [Mapview hg38]
OMIM615950   615959   
Gene and transcription
Genbank (Entrez)AB037718 AK055387 AK098307 AK126500 AK128689
RefSeq transcript (Entrez)NM_001173476 NM_005876
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPEG
Cluster EST : UnigeneHs.21639 [ NCBI ]
CGAP (NCI)Hs.21639
Alternative Splicing GalleryENSG00000072195
Gene ExpressionSPEG [ NCBI-GEO ]   SPEG [ EBI - ARRAY_EXPRESS ]   SPEG [ SEEK ]   SPEG [ MEM ]
Gene Expression Viewer (FireBrowse)SPEG [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10290
GTEX Portal (Tissue expression)SPEG
Human Protein AtlasENSG00000072195-SPEG [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15772   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15772  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15772
Splice isoforms : SwissVarQ15772
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ15772
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kin_striated-sp    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)I-set (PF07679)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam07679    pfam00069   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  S_TKc (SM00220)  
Conserved Domain (NCBI)SPEG
DMDM Disease mutations10290
Blocks (Seattle)SPEG
PDB (SRS)1U2H   
PDB (PDBSum)1U2H   
PDB (IMB)1U2H   
PDB (RSDB)1U2H   
Structural Biology KnowledgeBase1U2H   
SCOP (Structural Classification of Proteins)1U2H   
CATH (Classification of proteins structures)1U2H   
SuperfamilyQ15772
Human Protein Atlas [tissue]ENSG00000072195-SPEG [tissue]
Peptide AtlasQ15772
HPRD10653
IPIIPI00658151   IPI00178729   IPI00915314   IPI00658112   IPI00852805   IPI00869082   IPI00853574   IPI00892887   IPI00893261   IPI00892669   IPI00917356   
Protein Interaction databases
DIP (DOE-UCLA)Q15772
IntAct (EBI)Q15772
FunCoupENSG00000072195
BioGRIDSPEG
STRING (EMBL)SPEG
ZODIACSPEG
Ontologies - Pathways
QuickGOQ15772
Ontology : AmiGOprotein serine/threonine kinase activity  protein binding  ATP binding  nucleus  protein phosphorylation  muscle organ development  negative regulation of cell proliferation  muscle cell differentiation  
Ontology : EGO-EBIprotein serine/threonine kinase activity  protein binding  ATP binding  nucleus  protein phosphorylation  muscle organ development  negative regulation of cell proliferation  muscle cell differentiation  
NDEx NetworkSPEG
Atlas of Cancer Signalling NetworkSPEG
Wikipedia pathwaysSPEG
Orthology - Evolution
OrthoDB10290
GeneTree (enSembl)ENSG00000072195
Phylogenetic Trees/Animal Genes : TreeFamSPEG
HOVERGENQ15772
HOGENOMQ15772
Homologs : HomoloGeneSPEG
Homology/Alignments : Family Browser (UCSC)SPEG
Gene fusions - Rearrangements
Tumor Fusion PortalSPEG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPEG [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPEG
dbVarSPEG
ClinVarSPEG
1000_GenomesSPEG 
Exome Variant ServerSPEG
ExAC (Exome Aggregation Consortium)ENSG00000072195
GNOMAD BrowserENSG00000072195
Genetic variants : HAPMAP10290
Genomic Variants (DGV)SPEG [DGVbeta]
DECIPHERSPEG [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPEG 
Mutations
ICGC Data PortalSPEG 
TCGA Data PortalSPEG 
Broad Tumor PortalSPEG
OASIS PortalSPEG [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPEG  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPEG
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 SPEG
DgiDB (Drug Gene Interaction Database)SPEG
DoCM (Curated mutations)SPEG (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPEG (select a term)
intoGenSPEG
Cancer3DSPEG(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615950    615959   
Orphanet17833   
DisGeNETSPEG
MedgenSPEG
Genetic Testing Registry SPEG
NextProtQ15772 [Medical]
TSGene10290
GENETestsSPEG
Target ValidationSPEG
Huge Navigator SPEG [HugePedia]
snp3D : Map Gene to Disease10290
BioCentury BCIQSPEG
ClinGenSPEG
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10290
Chemical/Pharm GKB GenePA142672598
Clinical trialSPEG
Miscellaneous
canSAR (ICR)SPEG (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPEG
EVEXSPEG
GoPubMedSPEG
iHOPSPEG
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:36:13 CET 2017

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