Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPEF1 (sperm flagellar 1)

Identity

Alias (NCBI)C20orf28
CLAMP
SPEF1A
HGNC (Hugo) SPEF1
HGNC Alias symbDKFZP434I114
SPEF1A
CLAMP
HGNC Alias nameCaLponin-homology And Microtubule-associated Protein
HGNC Previous nameC20orf28
HGNC Previous namechromosome 20 open reading frame 28
LocusID (NCBI) 25876
Atlas_Id 74168
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 3777504 and ends at 3781455 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)

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)SPEF1   15874
Cards
Entrez_Gene (NCBI)SPEF1  25876  sperm flagellar 1
AliasesC20orf28; CLAMP; SPEF1A
GeneCards (Weizmann)SPEF1
Ensembl hg19 (Hinxton)ENSG00000101222 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101222 [Gene_View]  ENSG00000101222 [Sequence]  chr20:3777504-3781455 [Contig_View]  SPEF1 [Vega]
ICGC DataPortalENSG00000101222
TCGA cBioPortalSPEF1
AceView (NCBI)SPEF1
Genatlas (Paris)SPEF1
WikiGenes25876
SOURCE (Princeton)SPEF1
Genetics Home Reference (NIH)SPEF1
Genomic and cartography
GoldenPath hg38 (UCSC)SPEF1  -     chr20:3777504-3781455 -  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPEF1  -     20p13   [Description]    (hg19-Feb_2009)
GoldenPathSPEF1 - 20p13 [CytoView hg19]  SPEF1 - 20p13 [CytoView hg38]
ImmunoBaseENSG00000101222
genome Data Viewer NCBISPEF1 [Mapview hg19]  
OMIM610674   
Gene and transcription
Genbank (Entrez)AI925267 AK313766 AL040853 AL080154 BC022476
RefSeq transcript (Entrez)NM_015417
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPEF1
Alternative Splicing GalleryENSG00000101222
Gene ExpressionSPEF1 [ NCBI-GEO ]   SPEF1 [ EBI - ARRAY_EXPRESS ]   SPEF1 [ SEEK ]   SPEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPEF1 [ Firebrowse - Broad ]
GenevisibleExpression of SPEF1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25876
GTEX Portal (Tissue expression)SPEF1
Human Protein AtlasENSG00000101222-SPEF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4P9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4P9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4P9
Splice isoforms : SwissVarQ9Y4P9
PhosPhoSitePlusQ9Y4P9
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain    CH_2    CH_dom_sf   
Domain families : Pfam (Sanger)CH_2 (PF06294)   
Domain families : Pfam (NCBI)pfam06294   
Conserved Domain (NCBI)SPEF1
DMDM Disease mutations25876
Blocks (Seattle)SPEF1
PDB (RSDB)2EE7   
PDB Europe2EE7   
PDB (PDBSum)2EE7   
PDB (IMB)2EE7   
Structural Biology KnowledgeBase2EE7   
SCOP (Structural Classification of Proteins)2EE7   
CATH (Classification of proteins structures)2EE7   
SuperfamilyQ9Y4P9
Human Protein Atlas [tissue]ENSG00000101222-SPEF1 [tissue]
Peptide AtlasQ9Y4P9
HPRD09839
IPIIPI00552414   IPI00022834   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4P9
IntAct (EBI)Q9Y4P9
FunCoupENSG00000101222
BioGRIDSPEF1
STRING (EMBL)SPEF1
ZODIACSPEF1
Ontologies - Pathways
QuickGOQ9Y4P9
Ontology : AmiGOmolecular_function  protein binding  cellular_component  axoneme  axoneme  negative regulation of microtubule depolymerization  microtubule binding  microtubule binding  biological_process  cell migration  motile cilium  regulation of cytoskeleton organization  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  axoneme  axoneme  negative regulation of microtubule depolymerization  microtubule binding  microtubule binding  biological_process  cell migration  motile cilium  regulation of cytoskeleton organization  
NDEx NetworkSPEF1
Atlas of Cancer Signalling NetworkSPEF1
Wikipedia pathwaysSPEF1
Orthology - Evolution
OrthoDB25876
GeneTree (enSembl)ENSG00000101222
Phylogenetic Trees/Animal Genes : TreeFamSPEF1
HOGENOMQ9Y4P9
Homologs : HomoloGeneSPEF1
Homology/Alignments : Family Browser (UCSC)SPEF1
Gene fusions - Rearrangements
Fusion : QuiverSPEF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPEF1
dbVarSPEF1
ClinVarSPEF1
1000_GenomesSPEF1 
Exome Variant ServerSPEF1
GNOMAD BrowserENSG00000101222
Varsome BrowserSPEF1
Genetic variants : HAPMAP25876
Genomic Variants (DGV)SPEF1 [DGVbeta]
DECIPHERSPEF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPEF1 
Mutations
ICGC Data PortalSPEF1 
TCGA Data PortalSPEF1 
Broad Tumor PortalSPEF1
OASIS PortalSPEF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPEF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPEF1
Mutations and Diseases : HGMDSPEF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPEF1
DgiDB (Drug Gene Interaction Database)SPEF1
DoCM (Curated mutations)SPEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPEF1 (select a term)
intoGenSPEF1
Cancer3DSPEF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610674   
Orphanet
DisGeNETSPEF1
MedgenSPEF1
Genetic Testing Registry SPEF1
NextProtQ9Y4P9 [Medical]
TSGene25876
GENETestsSPEF1
Target ValidationSPEF1
Huge Navigator SPEF1 [HugePedia]
snp3D : Map Gene to Disease25876
BioCentury BCIQSPEF1
ClinGenSPEF1
Clinical trials, drugs, therapy
Protein Interactions : CTD25876
Pharm GKB GenePA162404432
Clinical trialSPEF1
Miscellaneous
canSAR (ICR)SPEF1 (select the gene name)
HarmonizomeSPEF1
DataMed IndexSPEF1
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPEF1
EVEXSPEF1
GoPubMedSPEF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:31:06 CEST 2020

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