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_namesSPECC1-like
Alias_symbol (synonym)KIAA0376
CYTSA
Other aliasGBBB2
OBLFC1
HGNC (Hugo) SPECC1L
LocusID (NCBI) 23384
Atlas_Id 74166
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 24270817 and ends at 24417740 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		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  23384  sperm antigen with calponin homology and coiled-coil domains 1 like
AliasesCYTSA; GBBB2; OBLFC1
GeneCards (Weizmann)SPECC1L
Ensembl hg19 (Hinxton)ENSG00000100014 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100014 [Gene_View]  chr22:24270817-24417740 [Contig_View]  SPECC1L [Vega]
ICGC DataPortalENSG00000100014
TCGA cBioPortalSPECC1L
AceView (NCBI)SPECC1L
Genatlas (Paris)SPECC1L
WikiGenes23384
SOURCE (Princeton)SPECC1L
Genetics Home Reference (NIH)SPECC1L
Genomic and cartography
GoldenPath hg38 (UCSC)SPECC1L  -     chr22:24270817-24417740 +  22q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPECC1L  -     22q11.23   [Description]    (hg19-Feb_2009)
EnsemblSPECC1L - 22q11.23 [CytoView hg19]  SPECC1L - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBISPECC1L [Mapview hg19]  SPECC1L [Mapview hg38]
OMIM145410   600251   614140   
Gene and transcription
Genbank (Entrez)AA773104 AB002374 AK025531 AK097129 AK301482
RefSeq transcript (Entrez)NM_001145468 NM_001254732 NM_001254733 NM_015330
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPECC1L
Cluster EST : UnigeneHs.474384 [ NCBI ]
CGAP (NCI)Hs.474384
Alternative Splicing GalleryENSG00000100014
Gene ExpressionSPECC1L [ NCBI-GEO ]   SPECC1L [ EBI - ARRAY_EXPRESS ]   SPECC1L [ SEEK ]   SPECC1L [ MEM ]
Gene Expression Viewer (FireBrowse)SPECC1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23384
GTEX Portal (Tissue expression)SPECC1L
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
Splice isoforms : SwissVarQ69YQ0
PhosPhoSitePlusQ69YQ0
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)SPECC1L
DMDM Disease mutations23384
Blocks (Seattle)SPECC1L
SuperfamilyQ69YQ0
Human Protein AtlasENSG00000100014
Peptide AtlasQ69YQ0
HPRD11080
IPIIPI00178072   IPI01009612   IPI01025834   IPI00334854   IPI00744837   IPI00879862   IPI00917142   
Protein Interaction databases
DIP (DOE-UCLA)Q69YQ0
IntAct (EBI)Q69YQ0
FunCoupENSG00000100014
BioGRIDSPECC1L
STRING (EMBL)SPECC1L
ZODIACSPECC1L
Ontologies - Pathways
QuickGOQ69YQ0
Ontology : AmiGOmicrotubule organizing center  spindle  cytosol  gap junction  negative regulation of microtubule depolymerization  cell cycle  cell adhesion  actin cytoskeleton  cell migration  actin cytoskeleton organization  negative regulation of actin filament depolymerization  filamentous actin  cell division  
Ontology : EGO-EBImicrotubule organizing center  spindle  cytosol  gap junction  negative regulation of microtubule depolymerization  cell cycle  cell adhesion  actin cytoskeleton  cell migration  actin cytoskeleton organization  negative regulation of actin filament depolymerization  filamentous actin  cell division  
NDEx NetworkSPECC1L
Atlas of Cancer Signalling NetworkSPECC1L
Wikipedia pathwaysSPECC1L
Orthology - Evolution
OrthoDB23384
GeneTree (enSembl)ENSG00000100014
Phylogenetic Trees/Animal Genes : TreeFamSPECC1L
HOVERGENQ69YQ0
HOGENOMQ69YQ0
Homologs : HomoloGeneSPECC1L
Homology/Alignments : Family Browser (UCSC)SPECC1L
Gene fusions - Rearrangements
Fusion: TCGASPECC1L PPP6R2
Fusion: TCGASPECC1L BCL2L13
Fusion: TCGASPECC1L TMEM62
Fusion: TCGASPECC1L RET
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPECC1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPECC1L
dbVarSPECC1L
ClinVarSPECC1L
1000_GenomesSPECC1L 
Exome Variant ServerSPECC1L
ExAC (Exome Aggregation Consortium)SPECC1L (select the gene name)
Genetic variants : HAPMAP23384
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]  
Mutations and Diseases : HGMDSPECC1L
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 SPECC1L
DgiDB (Drug Gene Interaction Database)SPECC1L
DoCM (Curated mutations)SPECC1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPECC1L (select a term)
intoGenSPECC1L
Cancer3DSPECC1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM145410    600251    614140   
Orphanet17070    17074    1686    21237   
MedgenSPECC1L
Genetic Testing Registry SPECC1L
NextProtQ69YQ0 [Medical]
TSGene23384
GENETestsSPECC1L
Target ValidationSPECC1L
Huge Navigator SPECC1L [HugePedia]
snp3D : Map Gene to Disease23384
BioCentury BCIQSPECC1L
ClinGenSPECC1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23384
Chemical/Pharm GKB GenePA164718673
Clinical trialSPECC1L
Miscellaneous
canSAR (ICR)SPECC1L (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPECC1L
EVEXSPECC1L
GoPubMedSPECC1L
iHOPSPECC1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:40:20 CEST 2017
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