Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TTC12 (tetratricopeptide repeat domain 12)

Identity

Alias (NCBI)CILD45
TPARM
HGNC (Hugo) TTC12
HGNC Alias symbFLJ13859
FLJ20535
TPARM
LocusID (NCBI) 54970
Atlas_Id 49940
Location 11q23.2  [Link to chromosome band 11q23]
Location_base_pair Starts at 113314583 and ends at 113366387 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)
CLDN10 (13q32.1) / TTC12 (11q23.2)ITGB3 (17q21.32) / TTC12 (11q23.2)NAP1L4 (11p15.4) / TTC12 (11q23.2)
TTC12 (11q23.2) / CHMP1A (16q24.3)TTC12 (11q23.2) / LUC7L2 (7q34)TTC12 (11q23.2) / TTC12 (11q23.2)
CLDN10 13q32.1 / TTC12 11q23.2TTC12 11q23.2 / LUC7L2 7q34

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(7;11)(q34;q23) TTC12/LUC7L2
t(11;13)(q23;q32) CLDN10/TTC12

External links

Nomenclature
HGNC (Hugo)TTC12   23700
Cards
Entrez_Gene (NCBI)TTC12  54970  tetratricopeptide repeat domain 12
AliasesCILD45; TPARM
GeneCards (Weizmann)TTC12
Ensembl hg19 (Hinxton)ENSG00000149292 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149292 [Gene_View]  ENSG00000149292 [Sequence]  chr11:113314583-113366387 [Contig_View]  TTC12 [Vega]
ICGC DataPortalENSG00000149292
TCGA cBioPortalTTC12
AceView (NCBI)TTC12
Genatlas (Paris)TTC12
WikiGenes54970
SOURCE (Princeton)TTC12
Genetics Home Reference (NIH)TTC12
Genomic and cartography
GoldenPath hg38 (UCSC)TTC12  -     chr11:113314583-113366387 +  11q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTC12  -     11q23.2   [Description]    (hg19-Feb_2009)
GoldenPathTTC12 - 11q23.2 [CytoView hg19]  TTC12 - 11q23.2 [CytoView hg38]
ImmunoBaseENSG00000149292
genome Data Viewer NCBITTC12 [Mapview hg19]  
OMIM610732   618801   
Gene and transcription
Genbank (Entrez)AK000542 AK023921 AK027161 AK091887 AK125909
RefSeq transcript (Entrez)NM_001318533 NM_001352037 NM_001352038 NM_001378063 NM_001378064 NM_001378065 NM_017868
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TTC12
Alternative Splicing GalleryENSG00000149292
Gene ExpressionTTC12 [ NCBI-GEO ]   TTC12 [ EBI - ARRAY_EXPRESS ]   TTC12 [ SEEK ]   TTC12 [ MEM ]
Gene Expression Viewer (FireBrowse)TTC12 [ Firebrowse - Broad ]
GenevisibleExpression of TTC12 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54970
GTEX Portal (Tissue expression)TTC12
Human Protein AtlasENSG00000149292-TTC12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H892   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H892  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H892
Splice isoforms : SwissVarQ9H892
PhosPhoSitePlusQ9H892
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)ARM-type_fold    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_1    TPR_repeat   
Domain families : Pfam (Sanger)TPR_1 (PF00515)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam00515    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)TTC12
DMDM Disease mutations54970
Blocks (Seattle)TTC12
SuperfamilyQ9H892
Human Protein Atlas [tissue]ENSG00000149292-TTC12 [tissue]
Peptide AtlasQ9H892
HPRD15577
IPIIPI00152982   IPI00296957   IPI00985391   IPI00852901   IPI00853595   IPI00884106   IPI00853184   IPI01010293   IPI00976334   IPI01009338   IPI00977091   IPI00974177   IPI00975774   IPI00984836   
Protein Interaction databases
DIP (DOE-UCLA)Q9H892
IntAct (EBI)Q9H892
FunCoupENSG00000149292
BioGRIDTTC12
STRING (EMBL)TTC12
ZODIACTTC12
Ontologies - Pathways
QuickGOQ9H892
Ontology : AmiGOcentrosome  
Ontology : EGO-EBIcentrosome  
NDEx NetworkTTC12
Atlas of Cancer Signalling NetworkTTC12
Wikipedia pathwaysTTC12
Orthology - Evolution
OrthoDB54970
GeneTree (enSembl)ENSG00000149292
Phylogenetic Trees/Animal Genes : TreeFamTTC12
HOGENOMQ9H892
Homologs : HomoloGeneTTC12
Homology/Alignments : Family Browser (UCSC)TTC12
Gene fusions - Rearrangements
Fusion : MitelmanCLDN10/TTC12 [13q32.1/11q23.2]  
Fusion : MitelmanTTC12/LUC7L2 [11q23.2/7q34]  
Fusion PortalCLDN10 13q32.1 TTC12 11q23.2 HNSC
Fusion PortalTTC12 11q23.2 LUC7L2 7q34 HNSC
Fusion : QuiverTTC12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTC12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTC12
dbVarTTC12
ClinVarTTC12
MonarchTTC12
1000_GenomesTTC12 
Exome Variant ServerTTC12
GNOMAD BrowserENSG00000149292
Varsome BrowserTTC12
Genetic variants : HAPMAP54970
Genomic Variants (DGV)TTC12 [DGVbeta]
DECIPHERTTC12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTTC12 
Mutations
ICGC Data PortalTTC12 
TCGA Data PortalTTC12 
Broad Tumor PortalTTC12
OASIS PortalTTC12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTTC12  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTTC12
Mutations and Diseases : HGMDTTC12
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 TTC12
DgiDB (Drug Gene Interaction Database)TTC12
DoCM (Curated mutations)TTC12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TTC12 (select a term)
intoGenTTC12
Cancer3DTTC12(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610732    618801   
Orphanet
DisGeNETTTC12
MedgenTTC12
Genetic Testing Registry TTC12
NextProtQ9H892 [Medical]
TSGene54970
GENETestsTTC12
Target ValidationTTC12
Huge Navigator TTC12 [HugePedia]
snp3D : Map Gene to Disease54970
BioCentury BCIQTTC12
ClinGenTTC12
Clinical trials, drugs, therapy
Protein Interactions : CTD54970
Pharm GKB GenePA134886066
Clinical trialTTC12
Miscellaneous
canSAR (ICR)TTC12 (select the gene name)
HarmonizomeTTC12
DataMed IndexTTC12
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTTC12
EVEXTTC12
GoPubMedTTC12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:37:33 CEST 2020
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