Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)

Identity

Alias (NCBI)CYTSA
GBBB2
OBLFC1
TBHS
HGNC (Hugo) SPECC1L
HGNC Alias symbKIAA0376
CYTSA
HGNC Alias namecytokinesis and spindle organization A
 cytospin A
HGNC Previous nameSPECC1-like
LocusID (NCBI) 23384
Atlas_Id 74166
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 24270831 and ends at 24417738 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)
FAM83D (20q11.23) / SPECC1L (22q11.23)LOC344595 () / SPECC1L (22q11.23)SPECC1L (22q11.23) / BCL2L13 (22q11.21)
SPECC1L (22q11.23) / PPP6R2 (22q13.33)SPECC1L (22q11.23) / RET (10q11.21)SPECC1L (22q11.23) / SPECC1L (22q11.23)
SPECC1L (22q11.23) / TMEM62 (15q15.2)SPECC1L PPP6R2SPECC1L BCL2L13
SPECC1L TMEM62SPECC1L RET

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)SPECC1L   29022
Cards
Entrez_Gene (NCBI)SPECC1L    sperm antigen with calponin homology and coiled-coil domains 1 like
AliasesCYTSA; GBBB2; OBLFC1; TBHS
GeneCards (Weizmann)SPECC1L
Ensembl hg19 (Hinxton)ENSG00000100014 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100014 [Gene_View]  ENSG00000100014 [Sequence]  chr22:24270831-24417738 [Contig_View]  SPECC1L [Vega]
ICGC DataPortalENSG00000100014
TCGA cBioPortalSPECC1L
AceView (NCBI)SPECC1L
Genatlas (Paris)SPECC1L
SOURCE (Princeton)SPECC1L
Genetics Home Reference (NIH)SPECC1L
Genomic and cartography
GoldenPath hg38 (UCSC)SPECC1L  -     chr22:24270831-24417738 +  22q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPECC1L  -     22q11.23   [Description]    (hg19-Feb_2009)
GoldenPathSPECC1L - 22q11.23 [CytoView hg19]  SPECC1L - 22q11.23 [CytoView hg38]
ImmunoBaseENSG00000100014
Genome Data Viewer NCBISPECC1L [Mapview hg19]  
OMIM145410   145420   600251   614140   
Gene and transcription
Genbank (Entrez)AA773104 AB002374 AK025531 AK097129 AK301482
RefSeq transcript (Entrez)NM_001145468 NM_001254732 NM_001254733 NM_015330
Consensus coding sequences : CCDS (NCBI)SPECC1L
Gene ExpressionSPECC1L [ NCBI-GEO ]   SPECC1L [ EBI - ARRAY_EXPRESS ]   SPECC1L [ SEEK ]   SPECC1L [ MEM ]
Gene Expression Viewer (FireBrowse)SPECC1L [ Firebrowse - Broad ]
GenevisibleExpression of SPECC1L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23384
GTEX Portal (Tissue expression)SPECC1L
Human Protein AtlasENSG00000100014-SPECC1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ69YQ0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ69YQ0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ69YQ0
PhosPhoSitePlusQ69YQ0
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain    CH_dom_sf    CYTSA   
Domain families : Pfam (Sanger)CH (PF00307)   
Domain families : Pfam (NCBI)pfam00307   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)SPECC1L
SuperfamilyQ69YQ0
AlphaFold pdb e-kbQ69YQ0   
Human Protein Atlas [tissue]ENSG00000100014-SPECC1L [tissue]
HPRD11080
Protein Interaction databases
DIP (DOE-UCLA)Q69YQ0
IntAct (EBI)Q69YQ0
BioGRIDSPECC1L
STRING (EMBL)SPECC1L
ZODIACSPECC1L
Ontologies - Pathways
QuickGOQ69YQ0
Ontology : AmiGOprotein binding  cytoplasm  microtubule organizing center  spindle  gap junction  cell cycle  cell adhesion  actin cytoskeleton  actin cytoskeleton organization  filamentous actin  cell division  
Ontology : EGO-EBIprotein binding  cytoplasm  microtubule organizing center  spindle  gap junction  cell cycle  cell adhesion  actin cytoskeleton  actin cytoskeleton organization  filamentous actin  cell division  
NDEx NetworkSPECC1L
Atlas of Cancer Signalling NetworkSPECC1L
Wikipedia pathwaysSPECC1L
Orthology - Evolution
OrthoDB23384
GeneTree (enSembl)ENSG00000100014
Phylogenetic Trees/Animal Genes : TreeFamSPECC1L
Homologs : HomoloGeneSPECC1L
Homology/Alignments : Family Browser (UCSC)SPECC1L
Gene fusions - Rearrangements
Fusion : QuiverSPECC1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPECC1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPECC1L
dbVarSPECC1L
ClinVarSPECC1L
MonarchSPECC1L
1000_GenomesSPECC1L 
Exome Variant ServerSPECC1L
GNOMAD BrowserENSG00000100014
Varsome BrowserSPECC1L
ACMGSPECC1L variants
VarityQ69YQ0
Genomic Variants (DGV)SPECC1L [DGVbeta]
DECIPHERSPECC1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPECC1L 
Mutations
ICGC Data PortalSPECC1L 
TCGA Data PortalSPECC1L 
Broad Tumor PortalSPECC1L
OASIS PortalSPECC1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPECC1L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPECC1L
Mutations and Diseases : HGMDSPECC1L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPECC1L
DgiDB (Drug Gene Interaction Database)SPECC1L
DoCM (Curated mutations)SPECC1L
CIViC (Clinical Interpretations of Variants in Cancer)SPECC1L
Cancer3DSPECC1L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM145410    145420    600251    614140   
Orphanet17070    17074    1686    21237   
DisGeNETSPECC1L
MedgenSPECC1L
Genetic Testing Registry SPECC1L
NextProtQ69YQ0 [Medical]
GENETestsSPECC1L
Target ValidationSPECC1L
Huge Navigator SPECC1L [HugePedia]
ClinGenSPECC1L
Clinical trials, drugs, therapy
MyCancerGenomeSPECC1L
Protein Interactions : CTDSPECC1L
Pharm GKB GenePA164718673
PharosQ69YQ0
Clinical trialSPECC1L
Miscellaneous
canSAR (ICR)SPECC1L
HarmonizomeSPECC1L
DataMed IndexSPECC1L
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPECC1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:23:59 CEST 2021
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