CREB3L1 (cAMP responsive element binding protein 3 like 1)

1. Identity

Alias_symbol (synonym)
General Information
Other aliasOI16
HGNC (Hugo) CREB3L1
LocusID (NCBI) 90993
Atlas_Id 49858
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 46277638 and ends at 46321422 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)
CREB3L1 (11p11.2) / ASPH (8q12.3)CREB3L1 (11p11.2) / COL6A3 (2q37.3)CREB3L1 (11p11.2) / FUS (16p11.2)
EWSR1 (22q12.2) / CREB3L1 (11p11.2)FUS (16p11.2) / CREB3L1 (11p11.2)PRRC2B (9q34.13) / CREB3L1 (11p11.2)
FUS CREB3L1

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  Soft Tissues: Low grade fibromyxoid sarcoma
Soft tissue tumors: an overview
t(11;11)(p11;q13) STIP1/CREB3L1
t(11;22)(p11;q12) EWSR1/CREB3L1
t(11;22)(p11;q12) EWSR1/CREB3L1
t(11;22)(p11;q12) EWSR1/CREB3L1
t(11;22)(p11;q12) EWSR1/CREB3L1
t(11;22)(p11;q12) EWSR1/CREB3L1

3. External links

Nomenclature
HGNC (Hugo)CREB3L1   18856
Cards
Entrez_Gene (NCBI)CREB3L1  90993  cAMP responsive element binding protein 3 like 1
AliasesOASIS; OI16
GeneCards (Weizmann)CREB3L1
Ensembl hg19 (Hinxton)ENSG00000157613 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157613 [Gene_View] &nbspENSG00000157613 [Sequence]  chr11:46277638-46321422 [Contig_View]  CREB3L1 [Vega]
ICGC DataPortalENSG00000157613
TCGA cBioPortalCREB3L1
AceView (NCBI)CREB3L1
Genatlas (Paris)CREB3L1
WikiGenes90993
SOURCE (Princeton)CREB3L1
Genetics Home Reference (NIH)CREB3L1
Genomic and cartography
GoldenPath hg38 (UCSC)CREB3L1  -     chr11:46277638-46321422 +  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CREB3L1  -     11p11.2   [Description]    (hg19-Feb_2009)
EnsemblCREB3L1 - 11p11.2 [CytoView hg19]  CREB3L1 - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBICREB3L1 [Mapview hg19]  CREB3L1 [Mapview hg38]
OMIM616215   616229   
Gene and transcription
Genbank (Entrez)AB063321 AF055009 AK075538 AK314072 BC014097
RefSeq transcript (Entrez)NM_052854
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CREB3L1
Cluster EST : UnigeneHs.405961 [ NCBI ]
CGAP (NCI)Hs.405961
Alternative Splicing GalleryENSG00000157613
Gene ExpressionCREB3L1 [ NCBI-GEO ]   CREB3L1 [ EBI - ARRAY_EXPRESS ]   CREB3L1 [ SEEK ]   CREB3L1 [ MEM ]
Gene Expression Viewer (FireBrowse)CREB3L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)90993
GTEX Portal (Tissue expression)CREB3L1
Human Protein AtlasENSG00000157613-CREB3L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BA8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BA8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BA8
Splice isoforms : SwissVarQ96BA8
PhosPhoSitePlusQ96BA8
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)bZIP    Leuzip_CREB    OASIS   
Domain families : Pfam (Sanger)bZIP_1 (PF00170)   
Domain families : Pfam (NCBI)pfam00170   
Domain families : Smart (EMBL)BRLZ (SM00338)  
Conserved Domain (NCBI)CREB3L1
DMDM Disease mutations90993
Blocks (Seattle)CREB3L1
SuperfamilyQ96BA8
Human Protein Atlas [tissue]ENSG00000157613-CREB3L1 [tissue]
Peptide AtlasQ96BA8
HPRD16751
IPIIPI00303434   IPI00848028   IPI00975566   IPI00976052   
Protein Interaction databases
DIP (DOE-UCLA)Q96BA8
IntAct (EBI)Q96BA8
FunCoupENSG00000157613
BioGRIDCREB3L1
STRING (EMBL)CREB3L1
ZODIACCREB3L1
Ontologies - Pathways
QuickGOQ96BA8
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  osteoblast differentiation  chromatin binding  protein binding  nucleus  nucleus  endoplasmic reticulum  endoplasmic reticulum membrane  multicellular organism development  negative regulation of gene expression  membrane  integral component of membrane  endoplasmic reticulum unfolded protein response  positive regulation of collagen biosynthetic process  cAMP response element binding  cAMP response element binding  negative regulation of fibroblast growth factor receptor signaling pathway  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  SMAD binding  extracellular matrix constituent secretion  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  negative regulation of sprouting angiogenesis  positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  osteoblast differentiation  chromatin binding  protein binding  nucleus  nucleus  endoplasmic reticulum  endoplasmic reticulum membrane  multicellular organism development  negative regulation of gene expression  membrane  integral component of membrane  endoplasmic reticulum unfolded protein response  positive regulation of collagen biosynthetic process  cAMP response element binding  cAMP response element binding  negative regulation of fibroblast growth factor receptor signaling pathway  transcription regulatory region DNA binding  negative regulation of transcription, DNA-templated  SMAD binding  extracellular matrix constituent secretion  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  negative regulation of sprouting angiogenesis  positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  
Pathways : KEGGPI3K-Akt signaling pathway    Adrenergic signaling in cardiomyocytes    TNF signaling pathway    Cholinergic synapse    Dopaminergic synapse    Insulin secretion    Estrogen signaling pathway    Melanogenesis    Thyroid hormone synthesis    Vasopressin-regulated water reabsorption    Huntington's disease    Cocaine addiction    Amphetamine addiction    Alcoholism    Hepatitis B    Viral carcinogenesis    Prostate cancer   
NDEx NetworkCREB3L1
Atlas of Cancer Signalling NetworkCREB3L1
Wikipedia pathwaysCREB3L1
Orthology - Evolution
OrthoDB90993
GeneTree (enSembl)ENSG00000157613
Phylogenetic Trees/Animal Genes : TreeFamCREB3L1
HOGENOMQ96BA8
Homologs : HomoloGeneCREB3L1
Homology/Alignments : Family Browser (UCSC)CREB3L1
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/CREB3L1 [22q12.2/11p11.2] &nbsp[t(11;22)(p11;q12)]  
Fusion : MitelmanFUS/CREB3L1 [16p11.2/11p11.2] &nbsp[t(11;16)(p11;p11)]  [t(11;16)(p11;q34)]  
Fusion : QuiverCREB3L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCREB3L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CREB3L1
dbVarCREB3L1
ClinVarCREB3L1
1000_GenomesCREB3L1 
Exome Variant ServerCREB3L1
ExAC (Exome Aggregation Consortium)ENSG00000157613
GNOMAD BrowserENSG00000157613
Varsome BrowserCREB3L1
Genetic variants : HAPMAP90993
Genomic Variants (DGV)CREB3L1 [DGVbeta]
DECIPHERCREB3L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCREB3L1 
Mutations
ICGC Data PortalCREB3L1 
TCGA Data PortalCREB3L1 
Broad Tumor PortalCREB3L1
OASIS PortalCREB3L1 [ Somatic mutations - Copy number]
Cancer Gene: CensusCREB3L1 
Somatic Mutations in Cancer : COSMICCREB3L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCREB3L1
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
LOVD (Leiden Open Variation Database)Osteogenesis Imperfecta Variant Database
BioMutasearch CREB3L1
DgiDB (Drug Gene Interaction Database)CREB3L1
DoCM (Curated mutations)CREB3L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CREB3L1 (select a term)
intoGenCREB3L1
Cancer3DCREB3L1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616215    616229   
Orphanet18793    11147   
DisGeNETCREB3L1
MedgenCREB3L1
Genetic Testing Registry CREB3L1
NextProtQ96BA8 [Medical]
TSGene90993
GENETestsCREB3L1
Target ValidationCREB3L1
Huge Navigator CREB3L1 [HugePedia]
snp3D : Map Gene to Disease90993
BioCentury BCIQCREB3L1
ClinGenCREB3L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90993
Chemical/Pharm GKB GenePA134960108
Clinical trialCREB3L1
Miscellaneous
canSAR (ICR)CREB3L1 (select the gene name)
DataMed IndexCREB3L1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCREB3L1
EVEXCREB3L1
GoPubMedCREB3L1
iHOPCREB3L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:07:51 CET 2019

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