Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TOPAZ1 (testis and ovary specific PAZ domain containing 1)

Identity

Alias (NCBI)C3orf77
HGNC (Hugo) TOPAZ1
HGNC Alias symbFLJ36157
HGNC Previous nameC3orf77
HGNC Previous namechromosome 3 open reading frame 77
LocusID (NCBI) 375337
Atlas_Id 75058
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 44241886 and ends at 44332098 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)

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)TOPAZ1   24746
Cards
Entrez_Gene (NCBI)TOPAZ1    testis and ovary specific PAZ domain containing 1
AliasesC3orf77
GeneCards (Weizmann)TOPAZ1
Ensembl hg19 (Hinxton)ENSG00000173769 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173769 [Gene_View]  ENSG00000173769 [Sequence]  chr3:44241886-44332098 [Contig_View]  TOPAZ1 [Vega]
ICGC DataPortalENSG00000173769
TCGA cBioPortalTOPAZ1
AceView (NCBI)TOPAZ1
Genatlas (Paris)TOPAZ1
SOURCE (Princeton)TOPAZ1
Genetics Home Reference (NIH)TOPAZ1
Genomic and cartography
GoldenPath hg38 (UCSC)TOPAZ1  -     chr3:44241886-44332098 +  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOPAZ1  -     3p21.31   [Description]    (hg19-Feb_2009)
GoldenPathTOPAZ1 - 3p21.31 [CytoView hg19]  TOPAZ1 - 3p21.31 [CytoView hg38]
ImmunoBaseENSG00000173769
Genome Data Viewer NCBITOPAZ1 [Mapview hg19]  
OMIM614412   
Gene and transcription
Genbank (Entrez)AK093476 BX648094
RefSeq transcript (Entrez)NM_001145030
Consensus coding sequences : CCDS (NCBI)TOPAZ1
Gene ExpressionTOPAZ1 [ NCBI-GEO ]   TOPAZ1 [ EBI - ARRAY_EXPRESS ]   TOPAZ1 [ SEEK ]   TOPAZ1 [ MEM ]
Gene Expression Viewer (FireBrowse)TOPAZ1 [ Firebrowse - Broad ]
GenevisibleExpression of TOPAZ1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375337
GTEX Portal (Tissue expression)TOPAZ1
Human Protein AtlasENSG00000173769-TOPAZ1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N9V7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N9V7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N9V7
PhosPhoSitePlusQ8N9V7
Domains : Interpro (EBI)TOPAZ1    TOPAZ1_dom   
Domain families : Pfam (Sanger)Asp_Glu_race_2 (PF14669)   
Domain families : Pfam (NCBI)pfam14669   
Conserved Domain (NCBI)TOPAZ1
SuperfamilyQ8N9V7
AlphaFold pdb e-kbQ8N9V7   
Human Protein Atlas [tissue]ENSG00000173769-TOPAZ1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8N9V7
IntAct (EBI)Q8N9V7
BioGRIDTOPAZ1
STRING (EMBL)TOPAZ1
ZODIACTOPAZ1
Ontologies - Pathways
QuickGOQ8N9V7
Ontology : AmiGOcytosol  apoptotic process  spermatid development  spermatocyte division  ncRNA transcription  positive regulation of meiotic cell cycle phase transition  
Ontology : EGO-EBIcytosol  apoptotic process  spermatid development  spermatocyte division  ncRNA transcription  positive regulation of meiotic cell cycle phase transition  
NDEx NetworkTOPAZ1
Atlas of Cancer Signalling NetworkTOPAZ1
Wikipedia pathwaysTOPAZ1
Orthology - Evolution
OrthoDB375337
GeneTree (enSembl)ENSG00000173769
Phylogenetic Trees/Animal Genes : TreeFamTOPAZ1
Homologs : HomoloGeneTOPAZ1
Homology/Alignments : Family Browser (UCSC)TOPAZ1
Gene fusions - Rearrangements
Fusion : QuiverTOPAZ1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOPAZ1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOPAZ1
dbVarTOPAZ1
ClinVarTOPAZ1
MonarchTOPAZ1
1000_GenomesTOPAZ1 
Exome Variant ServerTOPAZ1
GNOMAD BrowserENSG00000173769
Varsome BrowserTOPAZ1
ACMGTOPAZ1 variants
VarityQ8N9V7
Genomic Variants (DGV)TOPAZ1 [DGVbeta]
DECIPHERTOPAZ1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOPAZ1 
Mutations
ICGC Data PortalTOPAZ1 
TCGA Data PortalTOPAZ1 
Broad Tumor PortalTOPAZ1
OASIS PortalTOPAZ1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOPAZ1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTOPAZ1
Mutations and Diseases : HGMDTOPAZ1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTOPAZ1
DgiDB (Drug Gene Interaction Database)TOPAZ1
DoCM (Curated mutations)TOPAZ1
CIViC (Clinical Interpretations of Variants in Cancer)TOPAZ1
Cancer3DTOPAZ1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614412   
Orphanet
DisGeNETTOPAZ1
MedgenTOPAZ1
Genetic Testing Registry TOPAZ1
NextProtQ8N9V7 [Medical]
GENETestsTOPAZ1
Target ValidationTOPAZ1
Huge Navigator TOPAZ1 [HugePedia]
ClinGenTOPAZ1
Clinical trials, drugs, therapy
MyCancerGenomeTOPAZ1
Protein Interactions : CTDTOPAZ1
Pharm GKB GenePA165696874
PharosQ8N9V7
Clinical trialTOPAZ1
Miscellaneous
canSAR (ICR)TOPAZ1
HarmonizomeTOPAZ1
DataMed IndexTOPAZ1
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTOPAZ1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:26:34 CEST 2021

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