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TRPS1 (trichorhinophalangeal syndrome I)

Identity

Other namesGC79
LGCR
HGNC (Hugo) TRPS1
LocusID (NCBI) 7227
Location 8q23.3
Location_base_pair Starts at 116420724 and ends at 116680239 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

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)TRPS1   12340
Cards
Entrez_Gene (NCBI)TRPS1  7227  trichorhinophalangeal syndrome I
GeneCards (Weizmann)TRPS1
Ensembl hg19 (Hinxton)ENSG00000104447 [Gene_View]  chr8:116420724-116680239 [Contig_View]  TRPS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104447 [Gene_View]  chr8:116420724-116680239 [Contig_View]  TRPS1 [Vega]
ICGC DataPortalENSG00000104447
cBioPortalTRPS1
AceView (NCBI)TRPS1
Genatlas (Paris)TRPS1
WikiGenes7227
SOURCE (Princeton)TRPS1
Genomic and cartography
GoldenPath hg19 (UCSC)TRPS1  -     chr8:116420724-116680239 -  8q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TRPS1  -     8q23.3   [Description]    (hg38-Dec_2013)
EnsemblTRPS1 - 8q23.3 [CytoView hg19]  TRPS1 - 8q23.3 [CytoView hg38]
Mapping of homologs : NCBITRPS1 [Mapview hg19]  TRPS1 [Mapview hg38]
OMIM190350   190351   604386   
Gene and transcription
Genbank (Entrez)AF183810 AF264784 AK000948 AK021470 AK021511
RefSeq transcript (Entrez)NM_001282902 NM_001282903 NM_014112
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_012383 NT_008046 NW_001839136 NW_004929340
Consensus coding sequences : CCDS (NCBI)TRPS1
Cluster EST : UnigeneHs.657018 [ NCBI ]
CGAP (NCI)Hs.657018
Alternative Splicing : Fast-db (Paris)GSHG0029790
Alternative Splicing GalleryENSG00000104447
Gene ExpressionTRPS1 [ NCBI-GEO ]     TRPS1 [ SEEK ]   TRPS1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHF7 (Uniprot)
NextProtQ9UHF7  [Medical]
With graphics : InterProQ9UHF7
Splice isoforms : SwissVarQ9UHF7 (Swissvar)
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    Znf_C2H2-like    Znf_GATA    Znf_NHR/GATA   
Related proteins : CluSTrQ9UHF7
Domain families : Pfam (Sanger)GATA (PF00320)   
Domain families : Pfam (NCBI)pfam00320   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  ZnF_GATA (SM00401)  
DMDM Disease mutations7227
Blocks (Seattle)Q9UHF7
Human Protein AtlasENSG00000104447
Peptide AtlasQ9UHF7
HPRD05091
IPIIPI00296078   IPI00853099   IPI00937887   IPI00852690   IPI00852825   IPI00853380   IPI00983416   IPI00973868   IPI00979468   IPI01013632   IPI01013586   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHF7
IntAct (EBI)Q9UHF7
FunCoupENSG00000104447
BioGRIDTRPS1
IntegromeDBTRPS1
STRING (EMBL)TRPS1
Ontologies - Pathways
QuickGOQ9UHF7
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  skeletal system development  chondrocyte differentiation  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  NLS-bearing protein import into nucleus  transmembrane receptor protein serine/threonine kinase signaling pathway  zinc ion binding  regulation of histone deacetylation  regulation of chondrocyte differentiation  sequence-specific DNA binding  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  skeletal system development  chondrocyte differentiation  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  NLS-bearing protein import into nucleus  transmembrane receptor protein serine/threonine kinase signaling pathway  zinc ion binding  regulation of histone deacetylation  regulation of chondrocyte differentiation  sequence-specific DNA binding  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Protein Interaction DatabaseTRPS1
DoCM (Curated mutations)TRPS1
Wikipedia pathwaysTRPS1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTRPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TRPS1
dbVarTRPS1
ClinVarTRPS1
1000_GenomesTRPS1 
Exome Variant ServerTRPS1
SNP (GeneSNP Utah)TRPS1
SNP : HGBaseTRPS1
Genetic variants : HAPMAPTRPS1
Genomic VariantsTRPS1  TRPS1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000104447 
Somatic Mutations in Cancer : COSMICTRPS1 
CONAN: Copy Number AnalysisTRPS1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:116420724-116680239
Mutations and Diseases : HGMDTRPS1
OMIM190350    190351    604386   
MedgenTRPS1
NextProtQ9UHF7 [Medical]
GENETestsTRPS1
Disease Genetic AssociationTRPS1
Huge Navigator TRPS1 [HugePedia]  TRPS1 [HugeCancerGEM]
snp3D : Map Gene to Disease7227
DGIdb (Drug Gene Interaction db)TRPS1
General knowledge
Homologs : HomoloGeneTRPS1
Homology/Alignments : Family Browser (UCSC)TRPS1
Phylogenetic Trees/Animal Genes : TreeFamTRPS1
Chemical/Protein Interactions : CTD7227
Chemical/Pharm GKB GenePA37013
Clinical trialTRPS1
Cancer Resource (Charite)ENSG00000104447
Other databases
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
CoreMineTRPS1
GoPubMedTRPS1
iHOPTRPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:06:09 CET 2014

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