Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RAI1 (retinoic acid induced 1)

Identity

Alias_namesSMCR
Smith-Magenis syndrome chromosome region
Alias_symbol (synonym)DKFZP434A139
SMS
KIAA1820
MGC12824
Other alias
HGNC (Hugo) RAI1
LocusID (NCBI) 10743
Atlas_Id 72473
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 17681473 and ends at 17811451 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)
MYPOP (19q13.32) / RAI1 (17p11.2)PEMT (17p11.2) / RAI1 (17p11.2)RAI1 (17p11.2) / IFT20 (17q11.2)
RAI1 (17p11.2) / IGF2BP1 (17q21.32)RAI1 (17p11.2) / JAZF1 (7p15.2)RAI1 (17p11.2) / MRGPRF (11q13.3)
RAI1 (17p11.2) / MXRA7 (17q25.1)RAI1 (17p11.2) / PEMT (17p11.2)RAI1 (17p11.2) / SQLE (8q24.13)
RAI1 (17p11.2) / SREBF1 (17p11.2)RAI1 IGF2BP1RAI1 PEMT
RAI1 IFT20

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) [ 6 ]
  t(11;17)(q13;p11) RAI1/MRGPRF
PEMT/RAI1 (17p11)
RAI1/PEMT (17p11)
t(17;17)(p11;q11) RAI1/IFT20
t(17;17)(p11;q21) RAI1/IGF2BP1
t(17;17)(p11;q25) RAI1/MXRA7

External links

Nomenclature
HGNC (Hugo)RAI1   9834
Cards
Entrez_Gene (NCBI)RAI1  10743  retinoic acid induced 1
AliasesSMCR; SMS
GeneCards (Weizmann)RAI1
Ensembl hg19 (Hinxton)ENSG00000108557 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108557 [Gene_View]  ENSG00000108557 [Sequence]  chr17:17681473-17811451 [Contig_View]  RAI1 [Vega]
ICGC DataPortalENSG00000108557
TCGA cBioPortalRAI1
AceView (NCBI)RAI1
Genatlas (Paris)RAI1
WikiGenes10743
SOURCE (Princeton)RAI1
Genetics Home Reference (NIH)RAI1
Genomic and cartography
GoldenPath hg38 (UCSC)RAI1  -     chr17:17681473-17811451 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAI1  -     17p11.2   [Description]    (hg19-Feb_2009)
GoldenPathRAI1 - 17p11.2 [CytoView hg19]  RAI1 - 17p11.2 [CytoView hg38]
ImmunoBaseENSG00000108557
Mapping of homologs : NCBIRAI1 [Mapview hg19]  RAI1 [Mapview hg38]
OMIM182290   607642   
Gene and transcription
Genbank (Entrez)AB058723 AJ230819 AJ271790 AL133649 AL834468
RefSeq transcript (Entrez)NM_030665
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAI1
Alternative Splicing GalleryENSG00000108557
Gene ExpressionRAI1 [ NCBI-GEO ]   RAI1 [ EBI - ARRAY_EXPRESS ]   RAI1 [ SEEK ]   RAI1 [ MEM ]
Gene Expression Viewer (FireBrowse)RAI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10743
GTEX Portal (Tissue expression)RAI1
Human Protein AtlasENSG00000108557-RAI1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z5J4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z5J4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z5J4
Splice isoforms : SwissVarQ7Z5J4
PhosPhoSitePlusQ7Z5J4
Domaine pattern : Prosite (Expaxy)EPHD (PS51805)   
Domains : Interpro (EBI)EPHD    Znf_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PHD (SM00249)  
Conserved Domain (NCBI)RAI1
DMDM Disease mutations10743
Blocks (Seattle)RAI1
SuperfamilyQ7Z5J4
Human Protein Atlas [tissue]ENSG00000108557-RAI1 [tissue]
Peptide AtlasQ7Z5J4
HPRD07406
IPIIPI00449923   IPI00449924   IPI00449925   IPI00449926   IPI00647688   IPI00977403   IPI00789798   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z5J4
IntAct (EBI)Q7Z5J4
FunCoupENSG00000108557
BioGRIDRAI1
STRING (EMBL)RAI1
ZODIACRAI1
Ontologies - Pathways
QuickGOQ7Z5J4
Ontology : AmiGOskeletal system development  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  circadian regulation of gene expression  circadian regulation of gene expression  enhancer binding  negative regulation of multicellular organism growth  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  
Ontology : EGO-EBIskeletal system development  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  cytoplasm  circadian regulation of gene expression  circadian regulation of gene expression  enhancer binding  negative regulation of multicellular organism growth  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  metal ion binding  
NDEx NetworkRAI1
Atlas of Cancer Signalling NetworkRAI1
Wikipedia pathwaysRAI1
Orthology - Evolution
OrthoDB10743
GeneTree (enSembl)ENSG00000108557
Phylogenetic Trees/Animal Genes : TreeFamRAI1
HOGENOMQ7Z5J4
Homologs : HomoloGeneRAI1
Homology/Alignments : Family Browser (UCSC)RAI1
Gene fusions - Rearrangements
Fusion PortalRAI1 IGF2BP1
Fusion PortalRAI1 PEMT
Fusion PortalRAI1 IFT20
Fusion : QuiverRAI1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAI1
dbVarRAI1
ClinVarRAI1
1000_GenomesRAI1 
Exome Variant ServerRAI1
ExAC (Exome Aggregation Consortium)ENSG00000108557
GNOMAD BrowserENSG00000108557
Varsome BrowserRAI1
Genetic variants : HAPMAP10743
Genomic Variants (DGV)RAI1 [DGVbeta]
DECIPHERRAI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAI1 
Mutations
ICGC Data PortalRAI1 
TCGA Data PortalRAI1 
Broad Tumor PortalRAI1
OASIS PortalRAI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAI1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRAI1
Mutations and Diseases : HGMDRAI1
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 RAI1
DgiDB (Drug Gene Interaction Database)RAI1
DoCM (Curated mutations)RAI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAI1 (select a term)
intoGenRAI1
Cancer3DRAI1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182290    607642   
Orphanet387    387    1160   
DisGeNETRAI1
MedgenRAI1
Genetic Testing Registry RAI1
NextProtQ7Z5J4 [Medical]
TSGene10743
GENETestsRAI1
Target ValidationRAI1
Huge Navigator RAI1 [HugePedia]
snp3D : Map Gene to Disease10743
BioCentury BCIQRAI1
ClinGenRAI1
Clinical trials, drugs, therapy
Protein Interactions : CTD10743
Pharm GKB GenePA34188
Clinical trialRAI1
Miscellaneous
canSAR (ICR)RAI1 (select the gene name)
HarmonizomeRAI1
DataMed IndexRAI1
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAI1
EVEXRAI1
GoPubMedRAI1
iHOPRAI1
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 Jun 30 19:59:17 CEST 2020
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