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RMI1 (RecQ mediated genome instability 1)

Identity

Alias_names75 kDa
C9orf76
Alias_symbol (synonym)FLJ12888
BLAP75
Other aliasFAAP75
HGNC (Hugo) RMI1
LocusID (NCBI) 80010
Atlas_Id 49767
Location 9q21.32  [Link to chromosome band 9q21]
Location_base_pair Starts at 83980722 and ends at 84004072 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RMI1 (9q21.32) / STX17 (9q31.1)RMI1 9q21.32 / STX17 9q31.1

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

 


External links

Nomenclature
HGNC (Hugo)RMI1   25764
Cards
Entrez_Gene (NCBI)RMI1  80010  RecQ mediated genome instability 1
AliasesBLAP75; C9orf76; FAAP75
GeneCards (Weizmann)RMI1
Ensembl hg19 (Hinxton)ENSG00000178966 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178966 [Gene_View]  chr9:83980722-84004072 [Contig_View]  RMI1 [Vega]
ICGC DataPortalENSG00000178966
TCGA cBioPortalRMI1
AceView (NCBI)RMI1
Genatlas (Paris)RMI1
WikiGenes80010
SOURCE (Princeton)RMI1
Genetics Home Reference (NIH)RMI1
Genomic and cartography
GoldenPath hg38 (UCSC)RMI1  -     chr9:83980722-84004072 +  9q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RMI1  -     9q21.32   [Description]    (hg19-Feb_2009)
EnsemblRMI1 - 9q21.32 [CytoView hg19]  RMI1 - 9q21.32 [CytoView hg38]
Mapping of homologs : NCBIRMI1 [Mapview hg19]  RMI1 [Mapview hg38]
OMIM610404   
Gene and transcription
Genbank (Entrez)AJ420435 AK022950 BC020606 BC032494 BC039999
RefSeq transcript (Entrez)NM_024945
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RMI1
Cluster EST : UnigeneHs.726327 [ NCBI ]
CGAP (NCI)Hs.726327
Alternative Splicing GalleryENSG00000178966
Gene ExpressionRMI1 [ NCBI-GEO ]   RMI1 [ EBI - ARRAY_EXPRESS ]   RMI1 [ SEEK ]   RMI1 [ MEM ]
Gene Expression Viewer (FireBrowse)RMI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80010
GTEX Portal (Tissue expression)RMI1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9A7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H9A7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9A7
Splice isoforms : SwissVarQ9H9A7
PhosPhoSitePlusQ9H9A7
Domains : Interpro (EBI)DUF1767    RMI1_C    RMI1_N   
Domain families : Pfam (Sanger)RMI1_C (PF16099)    RMI1_N (PF08585)   
Domain families : Pfam (NCBI)pfam16099    pfam08585   
Domain families : Smart (EMBL)DUF1767 (SM01161)  
Conserved Domain (NCBI)RMI1
DMDM Disease mutations80010
Blocks (Seattle)RMI1
PDB (SRS)3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
PDB (PDBSum)3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
PDB (IMB)3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
PDB (RSDB)3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
Structural Biology KnowledgeBase3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
SCOP (Structural Classification of Proteins)3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
CATH (Classification of proteins structures)3MXN    3NBH    3NBI    4CGY    4CHT    4DAY   
SuperfamilyQ9H9A7
Human Protein AtlasENSG00000178966
Peptide AtlasQ9H9A7
HPRD09867
IPIIPI00017203   IPI00654894   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9A7
IntAct (EBI)Q9H9A7
FunCoupENSG00000178966
BioGRIDRMI1
STRING (EMBL)RMI1
ZODIACRMI1
Ontologies - Pathways
QuickGOQ9H9A7
Ontology : AmiGOnucleotide binding  DNA synthesis involved in DNA repair  strand displacement  reduction of food intake in response to dietary excess  protein binding  nucleoplasm  nucleoplasm  DNA replication  response to glucose  nuclear body  multicellular organism growth  glucose homeostasis  regulation of signal transduction by p53 class mediator  
Ontology : EGO-EBInucleotide binding  DNA synthesis involved in DNA repair  strand displacement  reduction of food intake in response to dietary excess  protein binding  nucleoplasm  nucleoplasm  DNA replication  response to glucose  nuclear body  multicellular organism growth  glucose homeostasis  regulation of signal transduction by p53 class mediator  
Pathways : KEGGFanconi anemia pathway   
NDEx NetworkRMI1
Atlas of Cancer Signalling NetworkRMI1
Wikipedia pathwaysRMI1
Orthology - Evolution
OrthoDB80010
GeneTree (enSembl)ENSG00000178966
Phylogenetic Trees/Animal Genes : TreeFamRMI1
HOVERGENQ9H9A7
HOGENOMQ9H9A7
Homologs : HomoloGeneRMI1
Homology/Alignments : Family Browser (UCSC)RMI1
Gene fusions - Rearrangements
Fusion : MitelmanRMI1/STX17 [9q21.32/9q31.1]  
Fusion: TCGARMI1 9q21.32 STX17 9q31.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRMI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RMI1
dbVarRMI1
ClinVarRMI1
1000_GenomesRMI1 
Exome Variant ServerRMI1
ExAC (Exome Aggregation Consortium)RMI1 (select the gene name)
Genetic variants : HAPMAP80010
Genomic Variants (DGV)RMI1 [DGVbeta]
DECIPHERRMI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRMI1 
Mutations
ICGC Data PortalRMI1 
TCGA Data PortalRMI1 
Broad Tumor PortalRMI1
OASIS PortalRMI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRMI1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRMI1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RMI1
DgiDB (Drug Gene Interaction Database)RMI1
DoCM (Curated mutations)RMI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RMI1 (select a term)
intoGenRMI1
Cancer3DRMI1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610404   
Orphanet
MedgenRMI1
Genetic Testing Registry RMI1
NextProtQ9H9A7 [Medical]
TSGene80010
GENETestsRMI1
Huge Navigator RMI1 [HugePedia]
snp3D : Map Gene to Disease80010
BioCentury BCIQRMI1
ClinGenRMI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80010
Chemical/Pharm GKB GenePA134939007
Clinical trialRMI1
Miscellaneous
canSAR (ICR)RMI1 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRMI1
EVEXRMI1
GoPubMedRMI1
iHOPRMI1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:35:07 CEST 2017

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