Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SPECC1 (sperm antigen HCMOGT-1)

Written2004-09Claudio Panarello
Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova, Italy

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)HCMOGT-1
FLJ36955
NSP
CYTSB
Other aliasHCMOGT-1 (sperm antigen HCMOGT-1)
HGNC (Hugo) SPECC1
LocusID (NCBI) 92521
Atlas_Id 174
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 20087022 and ends at 20314759 bp from pter ( according to hg19-Feb_2009)  [Mapping SPECC1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PDGFRB (5q32) / SPECC1 (17p11.2)SPECC1 (17p11.2) / CDC27 (17q21.32)SPECC1 (17p11.2) / PDGFRB (5q32)
SPECC1 (17p11.2) / SPECC1 (17p11.2)SPECC1 (17p11.2) / TMEM11 (17p11.2)SPECC1 (17p11.2) / VPS54 (2p14)

DNA/RNA

Description 2,7 Kb; coding sequence: 2,2Kb

Protein

Description 759 ammino acids; 84, 92 KDa; contains coiled-coil domains.
Expression Widely expressed.

Implicated in

Note
  
Entity t(5;17)(q33;p11.2) ---> PDGFRB/SPECC1
Disease Juvenile myelomonocytic leukemia.
Hybrid/Mutated Gene 5' HCMOGT-1/3' PDGFRB
  

Bibliography

Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis.
Laguinge LM, Lin S, Samara RN, Salesiotis AN, Jessup JM
Cancer research. 2004 ; 64 (8) : 2643-2648.
PMID 15087371
 

Citation

This paper should be referenced as such :
Panarello, C
HCMOGT-1 (sperm antigen HCMOGT-1)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):299-299.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/HCMOGT1ID174.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;17)(q33;p11.2) SPECC1/PDGFRB


External links

Nomenclature
HGNC (Hugo)SPECC1   30615
Cards
AtlasHCMOGT1ID174
Entrez_Gene (NCBI)SPECC1  92521  sperm antigen with calponin homology and coiled-coil domains 1
AliasesCYTSB; HCMOGT-1; HCMOGT1; NSP
GeneCards (Weizmann)SPECC1
Ensembl hg19 (Hinxton)ENSG00000128487 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128487 [Gene_View]  chr17:20087022-20314759 [Contig_View]  SPECC1 [Vega]
ICGC DataPortalENSG00000128487
TCGA cBioPortalSPECC1
AceView (NCBI)SPECC1
Genatlas (Paris)SPECC1
WikiGenes92521
SOURCE (Princeton)SPECC1
Genetics Home Reference (NIH)SPECC1
Genomic and cartography
GoldenPath hg38 (UCSC)SPECC1  -     chr17:20087022-20314759 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPECC1  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblSPECC1 - 17p11.2 [CytoView hg19]  SPECC1 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBISPECC1 [Mapview hg19]  SPECC1 [Mapview hg38]
OMIM608793   
Gene and transcription
Genbank (Entrez)AB041533 AI950511 AK295093 AK295811 AK298601
RefSeq transcript (Entrez)NM_001033553 NM_001033554 NM_001033555 NM_001243438 NM_001243439 NM_152904
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPECC1
Cluster EST : UnigeneHs.431045 [ NCBI ]
CGAP (NCI)Hs.431045
Alternative Splicing GalleryENSG00000128487
Gene ExpressionSPECC1 [ NCBI-GEO ]   SPECC1 [ EBI - ARRAY_EXPRESS ]   SPECC1 [ SEEK ]   SPECC1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPECC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92521
GTEX Portal (Tissue expression)SPECC1
Human Protein AtlasENSG00000128487-SPECC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5M775   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5M775  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5M775
Splice isoforms : SwissVarQ5M775
PhosPhoSitePlusQ5M775
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain   
Domain families : Pfam (Sanger)CH (PF00307)   
Domain families : Pfam (NCBI)pfam00307   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)SPECC1
DMDM Disease mutations92521
Blocks (Seattle)SPECC1
SuperfamilyQ5M775
Human Protein Atlas [tissue]ENSG00000128487-SPECC1 [tissue]
Peptide AtlasQ5M775
HPRD12301
IPIIPI00291032   IPI00030738   IPI00651654   IPI00651629   IPI00791003   IPI01010190   IPI00791034   
Protein Interaction databases
DIP (DOE-UCLA)Q5M775
IntAct (EBI)Q5M775
FunCoupENSG00000128487
BioGRIDSPECC1
STRING (EMBL)SPECC1
ZODIACSPECC1
Ontologies - Pathways
QuickGOQ5M775
Ontology : AmiGOnucleus  membrane  
Ontology : EGO-EBInucleus  membrane  
NDEx NetworkSPECC1
Atlas of Cancer Signalling NetworkSPECC1
Wikipedia pathwaysSPECC1
Orthology - Evolution
OrthoDB92521
GeneTree (enSembl)ENSG00000128487
Phylogenetic Trees/Animal Genes : TreeFamSPECC1
HOVERGENQ5M775
HOGENOMQ5M775
Homologs : HomoloGeneSPECC1
Homology/Alignments : Family Browser (UCSC)SPECC1
Gene fusions - Rearrangements
Fusion : MitelmanSPECC1/PDGFRB [17p11.2/5q32]  
Fusion : MitelmanSPECC1/TMEM11 [17p11.2/17p11.2]  [t(17;17)(p11;p11)]  
Fusion: TCGA_MDACCSPECC1 17p11.2 TMEM11 17p11.2 BRCA
Tumor Fusion PortalSPECC1
Fusion : TICdbSPECC1 [17p11.2]  -  PDGFRB [5q32]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPECC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPECC1
dbVarSPECC1
ClinVarSPECC1
1000_GenomesSPECC1 
Exome Variant ServerSPECC1
ExAC (Exome Aggregation Consortium)ENSG00000128487
GNOMAD BrowserENSG00000128487
Genetic variants : HAPMAP92521
Genomic Variants (DGV)SPECC1 [DGVbeta]
DECIPHERSPECC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPECC1 
Mutations
ICGC Data PortalSPECC1 
TCGA Data PortalSPECC1 
Broad Tumor PortalSPECC1
OASIS PortalSPECC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPECC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPECC1
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 SPECC1
DgiDB (Drug Gene Interaction Database)SPECC1
DoCM (Curated mutations)SPECC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPECC1 (select a term)
intoGenSPECC1
NCG5 (London)SPECC1
Cancer3DSPECC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608793   
Orphanet
DisGeNETSPECC1
MedgenSPECC1
Genetic Testing Registry SPECC1
NextProtQ5M775 [Medical]
TSGene92521
GENETestsSPECC1
Target ValidationSPECC1
Huge Navigator SPECC1 [HugePedia]
snp3D : Map Gene to Disease92521
BioCentury BCIQSPECC1
ClinGenSPECC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92521
Chemical/Pharm GKB GenePA164718712
Clinical trialSPECC1
Miscellaneous
canSAR (ICR)SPECC1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPECC1
EVEXSPECC1
GoPubMedSPECC1
iHOPSPECC1
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 : Wed Nov 15 12:23:41 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.