Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TCHHL1 (trichohyalin like 1)

Identity

Alias (NCBI)S100A17
THHL1
HGNC (Hugo) TCHHL1
HGNC Previous nameS100A17
 THHL1
HGNC Previous nameS100 calcium binding protein A17
 trichohyalin-like 1
LocusID (NCBI) 126637
Atlas_Id 56354
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 152084141 and ends at 152089064 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)TCHHL1   31796
Cards
Entrez_Gene (NCBI)TCHHL1  126637  trichohyalin like 1
AliasesS100A17; THHL1
GeneCards (Weizmann)TCHHL1
Ensembl hg19 (Hinxton)ENSG00000182898 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182898 [Gene_View]  ENSG00000182898 [Sequence]  chr1:152084141-152089064 [Contig_View]  TCHHL1 [Vega]
ICGC DataPortalENSG00000182898
TCGA cBioPortalTCHHL1
AceView (NCBI)TCHHL1
Genatlas (Paris)TCHHL1
WikiGenes126637
SOURCE (Princeton)TCHHL1
Genetics Home Reference (NIH)TCHHL1
Genomic and cartography
GoldenPath hg38 (UCSC)TCHHL1  -     chr1:152084141-152089064 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TCHHL1  -     1q21.3   [Description]    (hg19-Feb_2009)
GoldenPathTCHHL1 - 1q21.3 [CytoView hg19]  TCHHL1 - 1q21.3 [CytoView hg38]
ImmunoBaseENSG00000182898
genome Data Viewer NCBITCHHL1 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AY456639 BC137493
RefSeq transcript (Entrez)NM_001008536
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TCHHL1
Alternative Splicing GalleryENSG00000182898
Gene ExpressionTCHHL1 [ NCBI-GEO ]   TCHHL1 [ EBI - ARRAY_EXPRESS ]   TCHHL1 [ SEEK ]   TCHHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)TCHHL1 [ Firebrowse - Broad ]
GenevisibleExpression of TCHHL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126637
GTEX Portal (Tissue expression)TCHHL1
Human Protein AtlasENSG00000182898-TCHHL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5QJ38   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5QJ38  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5QJ38
Splice isoforms : SwissVarQ5QJ38
PhosPhoSitePlusQ5QJ38
Domains : Interpro (EBI)EF-hand-dom_pair    S-100_dom    S100_Ca-bd_sub    TCHHL1   
Domain families : Pfam (Sanger)S_100 (PF01023)   
Domain families : Pfam (NCBI)pfam01023   
Domain families : Smart (EMBL)S_100 (SM01394)  
Conserved Domain (NCBI)TCHHL1
DMDM Disease mutations126637
Blocks (Seattle)TCHHL1
SuperfamilyQ5QJ38
Human Protein Atlas [tissue]ENSG00000182898-TCHHL1 [tissue]
Peptide AtlasQ5QJ38
HPRD18179
IPIIPI00056742   
Protein Interaction databases
DIP (DOE-UCLA)Q5QJ38
IntAct (EBI)Q5QJ38
FunCoupENSG00000182898
BioGRIDTCHHL1
STRING (EMBL)TCHHL1
ZODIACTCHHL1
Ontologies - Pathways
QuickGOQ5QJ38
Ontology : AmiGOtransition metal ion binding  
Ontology : EGO-EBItransition metal ion binding  
NDEx NetworkTCHHL1
Atlas of Cancer Signalling NetworkTCHHL1
Wikipedia pathwaysTCHHL1
Orthology - Evolution
OrthoDB126637
GeneTree (enSembl)ENSG00000182898
Phylogenetic Trees/Animal Genes : TreeFamTCHHL1
HOGENOMQ5QJ38
Homologs : HomoloGeneTCHHL1
Homology/Alignments : Family Browser (UCSC)TCHHL1
Gene fusions - Rearrangements
Fusion : QuiverTCHHL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTCHHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TCHHL1
dbVarTCHHL1
ClinVarTCHHL1
1000_GenomesTCHHL1 
Exome Variant ServerTCHHL1
GNOMAD BrowserENSG00000182898
Varsome BrowserTCHHL1
Genetic variants : HAPMAP126637
Genomic Variants (DGV)TCHHL1 [DGVbeta]
DECIPHERTCHHL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTCHHL1 
Mutations
ICGC Data PortalTCHHL1 
TCGA Data PortalTCHHL1 
Broad Tumor PortalTCHHL1
OASIS PortalTCHHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTCHHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTCHHL1
Mutations and Diseases : HGMDTCHHL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TCHHL1
DgiDB (Drug Gene Interaction Database)TCHHL1
DoCM (Curated mutations)TCHHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TCHHL1 (select a term)
intoGenTCHHL1
Cancer3DTCHHL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTCHHL1
MedgenTCHHL1
Genetic Testing Registry TCHHL1
NextProtQ5QJ38 [Medical]
TSGene126637
GENETestsTCHHL1
Target ValidationTCHHL1
Huge Navigator TCHHL1 [HugePedia]
snp3D : Map Gene to Disease126637
BioCentury BCIQTCHHL1
ClinGenTCHHL1
Clinical trials, drugs, therapy
Protein Interactions : CTD126637
Pharm GKB GenePA134982007
Clinical trialTCHHL1
Miscellaneous
canSAR (ICR)TCHHL1 (select the gene name)
HarmonizomeTCHHL1
DataMed IndexTCHHL1
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTCHHL1
EVEXTCHHL1
GoPubMedTCHHL1
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 : Thu Jul 16 15:38:58 CEST 2020
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