Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPRR1B (small proline rich protein 1B)

Identity

Alias_namesSPRR1
small proline-rich protein 1B
Alias_symbol (synonym)GADD33
Other aliasCORNIFIN
SPR-IB
HGNC (Hugo) SPRR1B
LocusID (NCBI) 6699
Atlas_Id 42380
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 153031203 and ends at 153032900 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SPRR1B (1q21.3) / ARL13B (3q11.1)SPRR1B (1q21.3) / UBASH3B (11q24.1)SPRR1B (1q21.3) / XIST (Xq13.2)

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)SPRR1B   11260
Cards
Entrez_Gene (NCBI)SPRR1B  6699  small proline rich protein 1B
AliasesCORNIFIN; GADD33; SPR-IB; SPRR1
GeneCards (Weizmann)SPRR1B
Ensembl hg19 (Hinxton)ENSG00000169469 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169469 [Gene_View]  chr1:153031203-153032900 [Contig_View]  SPRR1B [Vega]
ICGC DataPortalENSG00000169469
TCGA cBioPortalSPRR1B
AceView (NCBI)SPRR1B
Genatlas (Paris)SPRR1B
WikiGenes6699
SOURCE (Princeton)SPRR1B
Genetics Home Reference (NIH)SPRR1B
Genomic and cartography
GoldenPath hg38 (UCSC)SPRR1B  -     chr1:153031203-153032900 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPRR1B  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblSPRR1B - 1q21.3 [CytoView hg19]  SPRR1B - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBISPRR1B [Mapview hg19]  SPRR1B [Mapview hg38]
OMIM182266   
Gene and transcription
Genbank (Entrez)AK312191 BC056240 BC156326 BC157076 CK300778
RefSeq transcript (Entrez)NM_003125
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPRR1B
Cluster EST : UnigeneHs.1076 [ NCBI ]
CGAP (NCI)Hs.1076
Alternative Splicing GalleryENSG00000169469
Gene ExpressionSPRR1B [ NCBI-GEO ]   SPRR1B [ EBI - ARRAY_EXPRESS ]   SPRR1B [ SEEK ]   SPRR1B [ MEM ]
Gene Expression Viewer (FireBrowse)SPRR1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6699
GTEX Portal (Tissue expression)SPRR1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22528   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22528  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22528
Splice isoforms : SwissVarP22528
PhosPhoSitePlusP22528
Domains : Interpro (EBI)Cornifin    SPRR/LCE   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SPRR1B
DMDM Disease mutations6699
Blocks (Seattle)SPRR1B
SuperfamilyP22528
Human Protein AtlasENSG00000169469
Peptide AtlasP22528
HPRD01648
IPIIPI00304903   IPI00873761   
Protein Interaction databases
DIP (DOE-UCLA)P22528
IntAct (EBI)P22528
FunCoupENSG00000169469
BioGRIDSPRR1B
STRING (EMBL)SPRR1B
ZODIACSPRR1B
Ontologies - Pathways
QuickGOP22528
Ontology : AmiGOcornified envelope  cornified envelope  structural molecule activity  cytoplasm  cytosol  epidermis development  peptide cross-linking  keratinocyte differentiation  protein binding, bridging  extracellular exosome  cornification  
Ontology : EGO-EBIcornified envelope  cornified envelope  structural molecule activity  cytoplasm  cytosol  epidermis development  peptide cross-linking  keratinocyte differentiation  protein binding, bridging  extracellular exosome  cornification  
NDEx NetworkSPRR1B
Atlas of Cancer Signalling NetworkSPRR1B
Wikipedia pathwaysSPRR1B
Orthology - Evolution
OrthoDB6699
GeneTree (enSembl)ENSG00000169469
Phylogenetic Trees/Animal Genes : TreeFamSPRR1B
HOVERGENP22528
HOGENOMP22528
Homologs : HomoloGeneSPRR1B
Homology/Alignments : Family Browser (UCSC)SPRR1B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPRR1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPRR1B
dbVarSPRR1B
ClinVarSPRR1B
1000_GenomesSPRR1B 
Exome Variant ServerSPRR1B
ExAC (Exome Aggregation Consortium)SPRR1B (select the gene name)
Genetic variants : HAPMAP6699
Genomic Variants (DGV)SPRR1B [DGVbeta]
DECIPHERSPRR1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPRR1B 
Mutations
ICGC Data PortalSPRR1B 
TCGA Data PortalSPRR1B 
Broad Tumor PortalSPRR1B
OASIS PortalSPRR1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPRR1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPRR1B
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 SPRR1B
DgiDB (Drug Gene Interaction Database)SPRR1B
DoCM (Curated mutations)SPRR1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPRR1B (select a term)
intoGenSPRR1B
Cancer3DSPRR1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182266   
Orphanet
MedgenSPRR1B
Genetic Testing Registry SPRR1B
NextProtP22528 [Medical]
TSGene6699
GENETestsSPRR1B
Target ValidationSPRR1B
Huge Navigator SPRR1B [HugePedia]
snp3D : Map Gene to Disease6699
BioCentury BCIQSPRR1B
ClinGenSPRR1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6699
Chemical/Pharm GKB GenePA36089
Clinical trialSPRR1B
Miscellaneous
canSAR (ICR)SPRR1B (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPRR1B
EVEXSPRR1B
GoPubMedSPRR1B
iHOPSPRR1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:15:34 CEST 2017

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