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RETREG1 (reticulophagy regulator 1)

Identity

Other aliasFAM134B
JK-1
JK1
HGNC (Hugo) RETREG1
LocusID (NCBI) 54463
Atlas_Id 56896
Location 5p15.1  [Link to chromosome band 5p15]
Location_base_pair Starts at 16473038 and ends at 16617058 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)
FAM134B 5p15.1 / TPPP 5p15.33

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)RETREG1   25964
Cards
Entrez_Gene (NCBI)RETREG1  54463  reticulophagy regulator 1
AliasesFAM134B; JK-1; JK1
GeneCards (Weizmann)RETREG1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr5:16473038-16617058 [Contig_View]  RETREG1 [Vega]
TCGA cBioPortalRETREG1
AceView (NCBI)RETREG1
Genatlas (Paris)RETREG1
WikiGenes54463
SOURCE (Princeton)RETREG1
Genetics Home Reference (NIH)RETREG1
Genomic and cartography
GoldenPath hg38 (UCSC)RETREG1  -     chr5:16473038-16617058 -  5p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RETREG1  -     5p15.1   [Description]    (hg19-Feb_2009)
EnsemblRETREG1 - 5p15.1 [CytoView hg19]  RETREG1 - 5p15.1 [CytoView hg38]
Mapping of homologs : NCBIRETREG1 [Mapview hg19]  RETREG1 [Mapview hg38]
OMIM201300   613114   613115   
Gene and transcription
Genbank (Entrez)AI261750 AK000159 AK024920 AK025808 AK025832
RefSeq transcript (Entrez)NM_001034850 NM_019000
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RETREG1
Cluster EST : UnigeneHs.481704 [ NCBI ]
CGAP (NCI)Hs.481704
Gene ExpressionRETREG1 [ NCBI-GEO ]   RETREG1 [ EBI - ARRAY_EXPRESS ]   RETREG1 [ SEEK ]   RETREG1 [ MEM ]
Gene Expression Viewer (FireBrowse)RETREG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54463
GTEX Portal (Tissue expression)RETREG1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H6L5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H6L5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H6L5
Splice isoforms : SwissVarQ9H6L5
PhosPhoSitePlusQ9H6L5
Domains : Interpro (EBI)FAM134B   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RETREG1
DMDM Disease mutations54463
Blocks (Seattle)RETREG1
SuperfamilyQ9H6L5
Peptide AtlasQ9H6L5
IPIIPI00549844   IPI00465357   IPI00965886   
Protein Interaction databases
DIP (DOE-UCLA)Q9H6L5
IntAct (EBI)Q9H6L5
BioGRIDRETREG1
STRING (EMBL)RETREG1
ZODIACRETREG1
Ontologies - Pathways
QuickGOQ9H6L5
Ontology : AmiGOprotein binding  endoplasmic reticulum  Golgi apparatus  cis-Golgi network  nuclear body  sensory perception of pain  integral component of endoplasmic reticulum membrane  negative regulation of neuron apoptotic process  reticulophagy  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  Golgi apparatus  cis-Golgi network  nuclear body  sensory perception of pain  integral component of endoplasmic reticulum membrane  negative regulation of neuron apoptotic process  reticulophagy  
NDEx NetworkRETREG1
Atlas of Cancer Signalling NetworkRETREG1
Wikipedia pathwaysRETREG1
Orthology - Evolution
OrthoDB54463
Phylogenetic Trees/Animal Genes : TreeFamRETREG1
HOVERGENQ9H6L5
HOGENOMQ9H6L5
Homologs : HomoloGeneRETREG1
Homology/Alignments : Family Browser (UCSC)RETREG1
Gene fusions - Rearrangements
Fusion : MitelmanFAM134B/CDH18 [5p15.1/5p14.3]  
Fusion : MitelmanFAM134B/TPPP [5p15.1/5p15.33]  [t(5;5)(p15;p15)]  
Fusion: TCGA_MDACCFAM134B 5p15.1 TPPP 5p15.33 PRAD
Tumor Fusion PortalRETREG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRETREG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RETREG1
dbVarRETREG1
ClinVarRETREG1
1000_GenomesRETREG1 
Exome Variant ServerRETREG1
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP54463
Genomic Variants (DGV)RETREG1 [DGVbeta]
DECIPHERRETREG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRETREG1 
Mutations
ICGC Data PortalRETREG1 
TCGA Data PortalRETREG1 
Broad Tumor PortalRETREG1
OASIS PortalRETREG1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDRETREG1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RETREG1
DgiDB (Drug Gene Interaction Database)RETREG1
DoCM (Curated mutations)RETREG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RETREG1 (select a term)
intoGenRETREG1
Cancer3DRETREG1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM201300    613114    613115   
Orphanet
DisGeNETRETREG1
MedgenRETREG1
Genetic Testing Registry RETREG1
NextProtQ9H6L5 [Medical]
TSGene54463
GENETestsRETREG1
Target ValidationRETREG1
Huge Navigator RETREG1 [HugePedia]
snp3D : Map Gene to Disease54463
BioCentury BCIQRETREG1
ClinGenRETREG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54463
Chemical/Pharm GKB GenePA162386188
Clinical trialRETREG1
Miscellaneous
canSAR (ICR)RETREG1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRETREG1
EVEXRETREG1
GoPubMedRETREG1
iHOPRETREG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:32:09 CET 2017

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