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TCHH (trichohyalin)

Identity

Alias_namesTHH
Other aliasTHL
TRHY
UHS3
HGNC (Hugo) TCHH
LocusID (NCBI) 7062
Atlas_Id 74583
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 152106317 and ends at 152115454 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)TCHH   11791
Cards
Entrez_Gene (NCBI)TCHH  7062  trichohyalin
AliasesTHH; THL; TRHY; UHS3
GeneCards (Weizmann)TCHH
Ensembl hg19 (Hinxton)ENSG00000159450 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159450 [Gene_View]  chr1:152106317-152115454 [Contig_View]  TCHH [Vega]
ICGC DataPortalENSG00000159450
TCGA cBioPortalTCHH
AceView (NCBI)TCHH
Genatlas (Paris)TCHH
WikiGenes7062
SOURCE (Princeton)TCHH
Genetics Home Reference (NIH)TCHH
Genomic and cartography
GoldenPath hg38 (UCSC)TCHH  -     chr1:152106317-152115454 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TCHH  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblTCHH - 1q21.3 [CytoView hg19]  TCHH - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBITCHH [Mapview hg19]  TCHH [Mapview hg38]
OMIM190370   617252   
Gene and transcription
Genbank (Entrez)AK307946 AY827491 BC131826 BC131827
RefSeq transcript (Entrez)NM_007113
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TCHH
Cluster EST : UnigeneHs.432416 [ NCBI ]
CGAP (NCI)Hs.432416
Alternative Splicing GalleryENSG00000159450
Gene ExpressionTCHH [ NCBI-GEO ]   TCHH [ EBI - ARRAY_EXPRESS ]   TCHH [ SEEK ]   TCHH [ MEM ]
Gene Expression Viewer (FireBrowse)TCHH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7062
GTEX Portal (Tissue expression)TCHH
Human Protein AtlasENSG00000159450-TCHH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07283   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07283  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07283
Splice isoforms : SwissVarQ07283
PhosPhoSitePlusQ07283
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    S100_CABP (PS00303)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    S-100_dom    S100/CaBP-9k_CS    S100_Ca-bd_sub    TCHH   
Domain families : Pfam (Sanger)S_100 (PF01023)   
Domain families : Pfam (NCBI)pfam01023   
Domain families : Smart (EMBL)S_100 (SM01394)  
Conserved Domain (NCBI)TCHH
DMDM Disease mutations7062
Blocks (Seattle)TCHH
SuperfamilyQ07283
Human Protein Atlas [tissue]ENSG00000159450-TCHH [tissue]
Peptide AtlasQ07283
IPIIPI00015869   
Protein Interaction databases
DIP (DOE-UCLA)Q07283
IntAct (EBI)Q07283
FunCoupENSG00000159450
BioGRIDTCHH
STRING (EMBL)TCHH
ZODIACTCHH
Ontologies - Pathways
QuickGOQ07283
Ontology : AmiGOcornified envelope  calcium ion binding  cytosol  cytoskeleton  biological_process  protein binding, bridging  intermediate filament organization  transition metal ion binding  cornification  
Ontology : EGO-EBIcornified envelope  calcium ion binding  cytosol  cytoskeleton  biological_process  protein binding, bridging  intermediate filament organization  transition metal ion binding  cornification  
NDEx NetworkTCHH
Atlas of Cancer Signalling NetworkTCHH
Wikipedia pathwaysTCHH
Orthology - Evolution
OrthoDB7062
GeneTree (enSembl)ENSG00000159450
Phylogenetic Trees/Animal Genes : TreeFamTCHH
HOVERGENQ07283
HOGENOMQ07283
Homologs : HomoloGeneTCHH
Homology/Alignments : Family Browser (UCSC)TCHH
Gene fusions - Rearrangements
Tumor Fusion PortalTCHH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTCHH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TCHH
dbVarTCHH
ClinVarTCHH
1000_GenomesTCHH 
Exome Variant ServerTCHH
ExAC (Exome Aggregation Consortium)ENSG00000159450
GNOMAD BrowserENSG00000159450
Genetic variants : HAPMAP7062
Genomic Variants (DGV)TCHH [DGVbeta]
DECIPHERTCHH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTCHH 
Mutations
ICGC Data PortalTCHH 
TCGA Data PortalTCHH 
Broad Tumor PortalTCHH
OASIS PortalTCHH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTCHH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTCHH
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
BioMutasearch TCHH
DgiDB (Drug Gene Interaction Database)TCHH
DoCM (Curated mutations)TCHH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TCHH (select a term)
intoGenTCHH
Cancer3DTCHH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM190370    617252   
Orphanet
DisGeNETTCHH
MedgenTCHH
Genetic Testing Registry TCHH
NextProtQ07283 [Medical]
TSGene7062
GENETestsTCHH
Target ValidationTCHH
Huge Navigator TCHH [HugePedia]
snp3D : Map Gene to Disease7062
BioCentury BCIQTCHH
ClinGenTCHH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7062
Chemical/Pharm GKB GenePA36503
Clinical trialTCHH
Miscellaneous
canSAR (ICR)TCHH (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTCHH
EVEXTCHH
GoPubMedTCHH
iHOPTCHH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:17:35 CET 2017

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