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TRPS1 (transcriptional repressor GATA binding 1)

Identity

Alias (NCBI)GC79
LGCR
HGNC (Hugo) TRPS1
HGNC Alias symbLGCR
GC79
HGNC Previous nametrichorhinophalangeal syndrome I
LocusID (NCBI) 7227
Atlas_Id 430
Location 8q23.3  [Link to chromosome band 8q23]
Location_base_pair Starts at 115408496 and ends at 115668975 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)
AKAP9 (7q21.2) / TRPS1 (8q23.3)PCID2 (13q34) / TRPS1 (8q23.3)RUNX1 (21q22.12) / TRPS1 (8q23.3)
SPARC (5q33.1) / TRPS1 (8q23.3)TRPS1 (8q23.3) / C19orf66 (19p13.2)TRPS1 (8q23.3) / CHRAC1 (8q24.3)
TRPS1 (8q23.3) / DEPTOR (8q24.12)TRPS1 (8q23.3) / LASP1 (17q12)TRPS1 (8q23.3) / LRP12 (8q22.3)
TRPS1 (8q23.3) / PAFAH1B1 (17p13.3)TRPS1 (8q23.3) / PCGF5 (10q23.32)TRPS1 (8q23.3) / PDE4DIP (1q21.1)
TRPS1 (8q23.3) / RAD21 (8q24.11)TRPS1 (8q23.3) / RP11-664D7.4 ()TRPS1 (8q23.3) / SPAG1 (8q22.2)
TRPS1 (8q23.3) / SPTBN1 (2p16.2)TRPS1 (8q23.3) / TBC1D9B (5q35.3)TRPS1 (8q23.3) / TRPS1 (8q23.3)
TRPS1 (8q23.3) / WWC3 (Xp22.2)TRPS1 (8q23.3) / ZNRF2 (7p14.3)TRPS1 8q23.3 / C19orf66 19p13.2
TRPS1 8q23.3 / CHRAC1 8q24.3TRPS1 8q23.3 / DEPTOR 8q24.12TRPS1 8q23.3 / LRP12 8q22.3
TRPS1 8q23.3 / PAFAH1B1 17p13.3TRPS1 8q23.3 / PDE4DIP 1q21.1TRPS1 8q23.3 / RAD21 8q24.11
TRPS1 8q23.3 RP11-664D7.4TRPS1 8q23.3 / SPAG1 8q22.2TRPS1 8q23.3 / TBC1D9B 5q35.3
TRPS1 8q23.3 / ZNRF2 7p14.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(8;21)(q24;q22) RUNX1/TRPS1


External links

 

Nomenclature
HGNC (Hugo)TRPS1   12340
Cards
Entrez_Gene (NCBI)TRPS1    transcriptional repressor GATA binding 1
AliasesGC79; LGCR
GeneCards (Weizmann)TRPS1
Ensembl hg19 (Hinxton)ENSG00000104447 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104447 [Gene_View]  ENSG00000104447 [Sequence]  chr8:115408496-115668975 [Contig_View]  TRPS1 [Vega]
ICGC DataPortalENSG00000104447
TCGA cBioPortalTRPS1
AceView (NCBI)TRPS1
Genatlas (Paris)TRPS1
SOURCE (Princeton)TRPS1
Genetics Home Reference (NIH)TRPS1
Genomic and cartography
GoldenPath hg38 (UCSC)TRPS1  -     chr8:115408496-115668975 -  8q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TRPS1  -     8q23.3   [Description]    (hg19-Feb_2009)
GoldenPathTRPS1 - 8q23.3 [CytoView hg19]  TRPS1 - 8q23.3 [CytoView hg38]
ImmunoBaseENSG00000104447
Genome Data Viewer NCBITRPS1 [Mapview hg19]  
OMIM190350   190351   604386   
Gene and transcription
Genbank (Entrez)AF183810 AF264784 AK000948 AK021470 AK021511
RefSeq transcript (Entrez)NM_001282902 NM_001282903 NM_001330599 NM_014112
Consensus coding sequences : CCDS (NCBI)TRPS1
Gene ExpressionTRPS1 [ NCBI-GEO ]   TRPS1 [ EBI - ARRAY_EXPRESS ]   TRPS1 [ SEEK ]   TRPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)TRPS1 [ Firebrowse - Broad ]
GenevisibleExpression of TRPS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7227
GTEX Portal (Tissue expression)TRPS1
Human Protein AtlasENSG00000104447-TRPS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHF7
PhosPhoSitePlusQ9UHF7
Domaine pattern : Prosite (Expaxy)GATA_ZN_FINGER_1 (PS00344)    GATA_ZN_FINGER_2 (PS50114)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)TRPS1    Znf_C2H2_sf    Znf_C2H2_type    Znf_GATA    Znf_NHR/GATA   
Domain families : Pfam (Sanger)GATA (PF00320)   
Domain families : Pfam (NCBI)pfam00320   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  ZnF_GATA (SM00401)  
Conserved Domain (NCBI)TRPS1
SuperfamilyQ9UHF7
AlphaFold pdb e-kbQ9UHF7   
Human Protein Atlas [tissue]ENSG00000104447-TRPS1 [tissue]
HPRD05091
Protein Interaction databases
DIP (DOE-UCLA)Q9UHF7
IntAct (EBI)Q9UHF7
BioGRIDTRPS1
STRING (EMBL)TRPS1
ZODIACTRPS1
Ontologies - Pathways
QuickGOQ9UHF7
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  skeletal system development  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  zinc ion binding  protein domain specific binding  regulation of chondrocyte differentiation  protein-containing complex  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  skeletal system development  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  zinc ion binding  protein domain specific binding  regulation of chondrocyte differentiation  protein-containing complex  
NDEx NetworkTRPS1
Atlas of Cancer Signalling NetworkTRPS1
Wikipedia pathwaysTRPS1
Orthology - Evolution
OrthoDB7227
GeneTree (enSembl)ENSG00000104447
Phylogenetic Trees/Animal Genes : TreeFamTRPS1
Homologs : HomoloGeneTRPS1
Homology/Alignments : Family Browser (UCSC)TRPS1
Gene fusions - Rearrangements
Fusion : MitelmanRUNX1/TRPS1 [21q22.12/8q23.3]  
Fusion : MitelmanSPARC/TRPS1 [5q33.1/8q23.3]  
Fusion : MitelmanTRPS1/C19orf66 [8q23.3/19p13.2]  
Fusion : MitelmanTRPS1/CHRAC1 [8q23.3/8q24.3]  
Fusion : MitelmanTRPS1/DEPTOR [8q23.3/8q24.12]  
Fusion : MitelmanTRPS1/LRP12 [8q23.3/8q22.3]  
Fusion : MitelmanTRPS1/PAFAH1B1 [8q23.3/17p13.3]  
Fusion : MitelmanTRPS1/PDE4DIP [8q23.3/1q21.1]  
Fusion : MitelmanTRPS1/RAD21 [8q23.3/8q24.11]  
Fusion : MitelmanTRPS1/SPAG1 [8q23.3/8q22.2]  
Fusion : MitelmanTRPS1/TBC1D9B [8q23.3/5q35.3]  
Fusion : MitelmanTRPS1/ZNRF2 [8q23.3/7p14.3]  
Fusion : QuiverTRPS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTRPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPS1
dbVarTRPS1
ClinVarTRPS1
MonarchTRPS1
1000_GenomesTRPS1 
Exome Variant ServerTRPS1
GNOMAD BrowserENSG00000104447
Varsome BrowserTRPS1
ACMGTRPS1 variants
VarityQ9UHF7
Genomic Variants (DGV)TRPS1 [DGVbeta]
DECIPHERTRPS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTRPS1 
Mutations
ICGC Data PortalTRPS1 
TCGA Data PortalTRPS1 
Broad Tumor PortalTRPS1
OASIS PortalTRPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTRPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTRPS1
Mutations and Diseases : HGMDTRPS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTRPS1
DgiDB (Drug Gene Interaction Database)TRPS1
DoCM (Curated mutations)TRPS1
CIViC (Clinical Interpretations of Variants in Cancer)TRPS1
Cancer3DTRPS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM190350    190351    604386   
Orphanet526    11101   
DisGeNETTRPS1
MedgenTRPS1
Genetic Testing Registry TRPS1
NextProtQ9UHF7 [Medical]
GENETestsTRPS1
Target ValidationTRPS1
Huge Navigator TRPS1 [HugePedia]
ClinGenTRPS1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeTRPS1
Protein Interactions : CTDTRPS1
Pharm GKB GenePA37013
PharosQ9UHF7
Clinical trialTRPS1
Miscellaneous
canSAR (ICR)TRPS1
HarmonizomeTRPS1
DataMed IndexTRPS1
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTRPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:36:33 CEST 2021

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