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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

 

External links

Nomenclature
HGNC (Hugo)TRPS1   12340
Cards
Entrez_Gene (NCBI)TRPS1  7227  trichorhinophalangeal syndrome I
GeneCards (Weizmann)TRPS1
Ensembl (Hinxton)ENSG00000104447 [Gene_View]  chr8:116420724-116680239 [Contig_View]  TRPS1 [Vega]
AceView (NCBI)TRPS1
Genatlas (Paris)TRPS1
WikiGenes7227
SOURCE (Princeton)NM_001282902 NM_001282903 NM_014112
Genomic and cartography
GoldenPath (UCSC)TRPS1  -  8q23.3   chr8:116420724-116680239 -  8q23.3   [Description]    (hg19-Feb_2009)
EnsemblTRPS1 - 8q23.3 [CytoView]
Mapping of homologs : NCBITRPS1 [Mapview]
OMIM150230   190350   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 ]
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)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
InParanoidQ9UHF7
Interologous Interaction database Q9UHF7
IntegromeDBTRPS1
STRING (EMBL)TRPS1
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  skeletal system development  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  NLS-bearing protein import into nucleus  zinc ion binding  regulation of chondrocyte differentiation  sequence-specific DNA binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  skeletal system development  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  NLS-bearing protein import into nucleus  zinc ion binding  regulation of chondrocyte differentiation  sequence-specific DNA binding  
REACTOMETRPS1
Protein Interaction DatabaseTRPS1
Wikipedia pathwaysTRPS1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TRPS1
SNP (GeneSNP Utah)TRPS1
SNP : HGBaseTRPS1
Genetic variants : HAPMAPTRPS1
1000_GenomesTRPS1 
ICGC programENSG00000104447 
Somatic Mutations in Cancer : COSMICTRPS1 
CONAN: Copy Number AnalysisTRPS1 
Mutations and Diseases : HGMDTRPS1
OMIM150230    190350    190351    604386   
GENETestsTRPS1
Disease Genetic AssociationTRPS1
Huge Navigator TRPS1 [HugePedia]  TRPS1 [HugeCancerGEM]
Genomic VariantsTRPS1  TRPS1 [DGVbeta]
Exome VariantTRPS1
dbVarTRPS1
ClinVarTRPS1
snp3D : Map Gene to Disease7227
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
PubMed51 Pubmed reference(s) in Entrez
CoreMineTRPS1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 16:50:23 CEST 2014

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