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REPS1 (RALBP1 associated Eps domain containing 1)

Identity

Other aliasNBIA7
RALBP1
HGNC (Hugo) REPS1
LocusID (NCBI) 85021
Atlas_Id 45918
Location 6q24.1  [Link to chromosome band 6q24]
Location_base_pair Starts at 138904015 and ends at 138988261 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)
DIDO1 (20q13.33) / REPS1 (6q24.1)FMNL3 (12q13.12) / REPS1 (6q24.1)REPS1 (6q24.1) / ELMO1 (7p14.2)
REPS1 (6q24.1) / GTPBP1 (22q13.1)REPS1 (6q24.1) / PDE4D (5q11.2)REPS1 (6q24.1) / REPS1 (6q24.1)
REPS1 (6q24.1) / ZNF669 (1q44)SP140 (2q37.1) / REPS1 (6q24.1)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;6)(q13;q24) LMBRD1/REPS1
t(6;20)(q24;q13) DIDO1/REPS1


External links

Nomenclature
HGNC (Hugo)REPS1   15578
Cards
Entrez_Gene (NCBI)REPS1  85021  RALBP1 associated Eps domain containing 1
AliasesNBIA7; RALBP1
GeneCards (Weizmann)REPS1
Ensembl hg19 (Hinxton)ENSG00000135597 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135597 [Gene_View]  ENSG00000135597 [Sequence]  chr6:138904015-138988261 [Contig_View]  REPS1 [Vega]
ICGC DataPortalENSG00000135597
TCGA cBioPortalREPS1
AceView (NCBI)REPS1
Genatlas (Paris)REPS1
WikiGenes85021
SOURCE (Princeton)REPS1
Genetics Home Reference (NIH)REPS1
Genomic and cartography
GoldenPath hg38 (UCSC)REPS1  -     chr6:138904015-138988261 -  6q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)REPS1  -     6q24.1   [Description]    (hg19-Feb_2009)
EnsemblREPS1 - 6q24.1 [CytoView hg19]  REPS1 - 6q24.1 [CytoView hg38]
Mapping of homologs : NCBIREPS1 [Mapview hg19]  REPS1 [Mapview hg38]
OMIM614825   617916   
Gene and transcription
Genbank (Entrez)AA025663 AA653442 AA706721 AB209143 AF251052
RefSeq transcript (Entrez)NM_001128617 NM_001286611 NM_001286612 NM_031922
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)REPS1
Cluster EST : UnigeneHs.732041 [ NCBI ]
CGAP (NCI)Hs.732041
Alternative Splicing GalleryENSG00000135597
Gene ExpressionREPS1 [ NCBI-GEO ]   REPS1 [ EBI - ARRAY_EXPRESS ]   REPS1 [ SEEK ]   REPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)REPS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85021
GTEX Portal (Tissue expression)REPS1
Human Protein AtlasENSG00000135597-REPS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96D71   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96D71  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96D71
Splice isoforms : SwissVarQ96D71
PhosPhoSitePlusQ96D71
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom    Reps1   
Domain families : Pfam (Sanger)EF-hand_4 (PF12763)   
Domain families : Pfam (NCBI)pfam12763   
Domain families : Smart (EMBL)EH (SM00027)  
Conserved Domain (NCBI)REPS1
DMDM Disease mutations85021
Blocks (Seattle)REPS1
SuperfamilyQ96D71
Human Protein Atlas [tissue]ENSG00000135597-REPS1 [tissue]
Peptide AtlasQ96D71
HPRD09687
IPIIPI00940373   IPI00783030   IPI00938352   IPI00552137   IPI00644155   IPI00917107   IPI00917829   IPI00916282   IPI00979219   IPI00979910   IPI01013778   IPI00980446   IPI00975885   IPI00981874   
Protein Interaction databases
DIP (DOE-UCLA)Q96D71
IntAct (EBI)Q96D71
FunCoupENSG00000135597
BioGRIDREPS1
STRING (EMBL)REPS1
ZODIACREPS1
Ontologies - Pathways
QuickGOQ96D71
Ontology : AmiGOcalcium ion binding  protein binding  cytosol  plasma membrane  clathrin-coated pit  receptor-mediated endocytosis  SH3 domain binding  membrane organization  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytosol  plasma membrane  clathrin-coated pit  receptor-mediated endocytosis  SH3 domain binding  membrane organization  
NDEx NetworkREPS1
Atlas of Cancer Signalling NetworkREPS1
Wikipedia pathwaysREPS1
Orthology - Evolution
OrthoDB85021
GeneTree (enSembl)ENSG00000135597
Phylogenetic Trees/Animal Genes : TreeFamREPS1
HOVERGENQ96D71
HOGENOMQ96D71
Homologs : HomoloGeneREPS1
Homology/Alignments : Family Browser (UCSC)REPS1
Gene fusions - Rearrangements
Fusion : MitelmanDIDO1/REPS1 [20q13.33/6q24.1]  [t(6;20)(q24;q13)]  
Fusion : QuiverREPS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerREPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)REPS1
dbVarREPS1
ClinVarREPS1
1000_GenomesREPS1 
Exome Variant ServerREPS1
ExAC (Exome Aggregation Consortium)ENSG00000135597
GNOMAD BrowserENSG00000135597
Varsome BrowserREPS1
Genetic variants : HAPMAP85021
Genomic Variants (DGV)REPS1 [DGVbeta]
DECIPHERREPS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisREPS1 
Mutations
ICGC Data PortalREPS1 
TCGA Data PortalREPS1 
Broad Tumor PortalREPS1
OASIS PortalREPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICREPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDREPS1
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 REPS1
DgiDB (Drug Gene Interaction Database)REPS1
DoCM (Curated mutations)REPS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)REPS1 (select a term)
intoGenREPS1
Cancer3DREPS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614825    617916   
Orphanet
DisGeNETREPS1
MedgenREPS1
Genetic Testing Registry REPS1
NextProtQ96D71 [Medical]
TSGene85021
GENETestsREPS1
Target ValidationREPS1
Huge Navigator REPS1 [HugePedia]
snp3D : Map Gene to Disease85021
BioCentury BCIQREPS1
ClinGenREPS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85021
Chemical/Pharm GKB GenePA34329
Clinical trialREPS1
Miscellaneous
canSAR (ICR)REPS1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineREPS1
EVEXREPS1
GoPubMedREPS1
iHOPREPS1
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 : Tue Nov 6 11:35:11 CET 2018

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