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PERM1 (PPARGC1 and ESRR induced regulator, muscle 1)

Identity

Alias_namesC1orf170
chromosome 1 open reading frame 170
Alias_symbol (synonym)MGC13275
RP11-54O7.8
Perm1
Other alias
HGNC (Hugo) PERM1
LocusID (NCBI) 84808
Atlas_Id 71828
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 910579 and ends at 917497 bp from pter ( according to hg19-Feb_2009)

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)PERM1   28208
Cards
Entrez_Gene (NCBI)PERM1  84808  PPARGC1 and ESRR induced regulator, muscle 1
AliasesC1orf170
GeneCards (Weizmann)PERM1
Ensembl hg19 (Hinxton)ENSG00000187642 [Gene_View]  chr1:910579-917497 [Contig_View]  PERM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000187642 [Gene_View]  chr1:910579-917497 [Contig_View]  PERM1 [Vega]
ICGC DataPortalENSG00000187642
TCGA cBioPortalPERM1
AceView (NCBI)PERM1
Genatlas (Paris)PERM1
WikiGenes84808
SOURCE (Princeton)PERM1
Genetics Home Reference (NIH)PERM1
Genomic and cartography
GoldenPath hg19 (UCSC)PERM1  -     chr1:910579-917497 -  1p36.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PERM1  -     1p36.33   [Description]    (hg38-Dec_2013)
EnsemblPERM1 - 1p36.33 [CytoView hg19]  PERM1 - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBIPERM1 [Mapview hg19]  PERM1 [Mapview hg38]
OMIM615921   
Gene and transcription
Genbank (Entrez)AK123855 AK312221 BC006300 F22110 KF150175
RefSeq transcript (Entrez)NM_001291366 NM_001291367 NM_032722
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929288
Consensus coding sequences : CCDS (NCBI)PERM1
Cluster EST : UnigeneHs.271462 [ NCBI ]
CGAP (NCI)Hs.271462
Alternative Splicing GalleryENSG00000187642
Gene ExpressionPERM1 [ NCBI-GEO ]   PERM1 [ EBI - ARRAY_EXPRESS ]   PERM1 [ SEEK ]   PERM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PERM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84808
GTEX Portal (Tissue expression)PERM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5SV97   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5SV97  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5SV97
Splice isoforms : SwissVarQ5SV97
PhosPhoSitePlusQ5SV97
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PERM1
DMDM Disease mutations84808
Blocks (Seattle)PERM1
SuperfamilyQ5SV97
Human Protein AtlasENSG00000187642
Peptide AtlasQ5SV97
IPIIPI00420049   IPI00856062   
Protein Interaction databases
DIP (DOE-UCLA)Q5SV97
IntAct (EBI)Q5SV97
FunCoupENSG00000187642
BioGRIDPERM1
STRING (EMBL)PERM1
ZODIACPERM1
Ontologies - Pathways
QuickGOQ5SV97
Ontology : AmiGOnucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  response to muscle activity  
Ontology : EGO-EBInucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  response to muscle activity  
NDEx NetworkPERM1
Atlas of Cancer Signalling NetworkPERM1
Wikipedia pathwaysPERM1
Orthology - Evolution
OrthoDB84808
GeneTree (enSembl)ENSG00000187642
Phylogenetic Trees/Animal Genes : TreeFamPERM1
HOVERGENQ5SV97
HOGENOMQ5SV97
Homologs : HomoloGenePERM1
Homology/Alignments : Family Browser (UCSC)PERM1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPERM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PERM1
dbVarPERM1
ClinVarPERM1
1000_GenomesPERM1 
Exome Variant ServerPERM1
ExAC (Exome Aggregation Consortium)PERM1 (select the gene name)
Genetic variants : HAPMAP84808
Genomic Variants (DGV)PERM1 [DGVbeta]
DECIPHER (Syndromes)1:910579-917497  ENSG00000187642
CONAN: Copy Number AnalysisPERM1 
Mutations
ICGC Data PortalPERM1 
TCGA Data PortalPERM1 
Broad Tumor PortalPERM1
OASIS PortalPERM1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPERM1
BioMutasearch PERM1
DgiDB (Drug Gene Interaction Database)PERM1
DoCM (Curated mutations)PERM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PERM1 (select a term)
intoGenPERM1
Cancer3DPERM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615921   
Orphanet
MedgenPERM1
Genetic Testing Registry PERM1
NextProtQ5SV97 [Medical]
TSGene84808
GENETestsPERM1
Huge Navigator PERM1 [HugePedia]
snp3D : Map Gene to Disease84808
BioCentury BCIQPERM1
ClinGenPERM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84808
Chemical/Pharm GKB GenePA142672419
Clinical trialPERM1
Miscellaneous
canSAR (ICR)PERM1 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePERM1
EVEXPERM1
GoPubMedPERM1
iHOPPERM1
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 Mar 14 12:38:20 CET 2017

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