Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TTC8 (tetratricopeptide repeat domain 8)

Identity

Alias (NCBI)BBS8
RP51
HGNC (Hugo) TTC8
HGNC Alias symbBBS8
RP51
LocusID (NCBI) 123016
Atlas_Id 75301
Location 14q31.3  [Link to chromosome band 14q31]
Location_base_pair Starts at 88824153 and ends at 88877996 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)TTC8   20087
Cards
Entrez_Gene (NCBI)TTC8    tetratricopeptide repeat domain 8
AliasesBBS8; RP51
GeneCards (Weizmann)TTC8
Ensembl hg19 (Hinxton)ENSG00000165533 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165533 [Gene_View]  ENSG00000165533 [Sequence]  chr14:88824153-88877996 [Contig_View]  TTC8 [Vega]
ICGC DataPortalENSG00000165533
TCGA cBioPortalTTC8
AceView (NCBI)TTC8
Genatlas (Paris)TTC8
SOURCE (Princeton)TTC8
Genetics Home Reference (NIH)TTC8
Genomic and cartography
GoldenPath hg38 (UCSC)TTC8  -     chr14:88824153-88877996 +  14q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTC8  -     14q31.3   [Description]    (hg19-Feb_2009)
GoldenPathTTC8 - 14q31.3 [CytoView hg19]  TTC8 - 14q31.3 [CytoView hg38]
ImmunoBaseENSG00000165533
Genome Data Viewer NCBITTC8 [Mapview hg19]  
OMIM608132   613464   615985   
Gene and transcription
Genbank (Entrez)AF086168 AK093891 AK124675 AK296077 AK315772
RefSeq transcript (Entrez)NM_001288781 NM_001288782 NM_001288783 NM_001366535 NM_001366536 NM_144596 NM_198309 NM_198310
Consensus coding sequences : CCDS (NCBI)TTC8
Gene ExpressionTTC8 [ NCBI-GEO ]   TTC8 [ EBI - ARRAY_EXPRESS ]   TTC8 [ SEEK ]   TTC8 [ MEM ]
Gene Expression Viewer (FireBrowse)TTC8 [ Firebrowse - Broad ]
GenevisibleExpression of TTC8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)123016
GTEX Portal (Tissue expression)TTC8
Human Protein AtlasENSG00000165533-TTC8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAM2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAM2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAM2
PhosPhoSitePlusQ8TAM2
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)BBS8    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_repeat   
Domain families : Pfam (Sanger)TPR_7 (PF13176)   
Domain families : Pfam (NCBI)pfam13176   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)TTC8
SuperfamilyQ8TAM2
AlphaFold pdb e-kbQ8TAM2   
Human Protein Atlas [tissue]ENSG00000165533-TTC8 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8TAM2
IntAct (EBI)Q8TAM2
BioGRIDTTC8
STRING (EMBL)TTC8
ZODIACTTC8
Ontologies - Pathways
QuickGOQ8TAM2
Ontology : AmiGOestablishment of planar polarity  protein binding  centrosome  cytosol  cilium  axon guidance  sensory perception of smell  protein transport  olfactory bulb development  photoreceptor connecting cilium  regulation of protein localization  negative regulation of GTPase activity  BBSome  BBSome  multicellular organism growth  ciliary basal body  ciliary basal body  establishment of epithelial cell apical/basal polarity  fat cell differentiation  establishment of anatomical structure orientation  sensory processing  regulation of stress fiber assembly  inner ear receptor cell stereocilium organization  ciliary membrane  camera-type eye photoreceptor cell differentiation  cilium assembly  renal tubule development  RNA polymerase II-specific DNA-binding transcription factor binding  protein localization to plasma membrane  non-motile cilium  multi-ciliated epithelial cell differentiation  non-motile cilium assembly  
Ontology : EGO-EBIestablishment of planar polarity  protein binding  centrosome  cytosol  cilium  axon guidance  sensory perception of smell  protein transport  olfactory bulb development  photoreceptor connecting cilium  regulation of protein localization  negative regulation of GTPase activity  BBSome  BBSome  multicellular organism growth  ciliary basal body  ciliary basal body  establishment of epithelial cell apical/basal polarity  fat cell differentiation  establishment of anatomical structure orientation  sensory processing  regulation of stress fiber assembly  inner ear receptor cell stereocilium organization  ciliary membrane  camera-type eye photoreceptor cell differentiation  cilium assembly  renal tubule development  RNA polymerase II-specific DNA-binding transcription factor binding  protein localization to plasma membrane  non-motile cilium  multi-ciliated epithelial cell differentiation  non-motile cilium assembly  
NDEx NetworkTTC8
Atlas of Cancer Signalling NetworkTTC8
Wikipedia pathwaysTTC8
Orthology - Evolution
OrthoDB123016
GeneTree (enSembl)ENSG00000165533
Phylogenetic Trees/Animal Genes : TreeFamTTC8
Homologs : HomoloGeneTTC8
Homology/Alignments : Family Browser (UCSC)TTC8
Gene fusions - Rearrangements
Fusion : QuiverTTC8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTC8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTC8
dbVarTTC8
ClinVarTTC8
MonarchTTC8
1000_GenomesTTC8 
Exome Variant ServerTTC8
GNOMAD BrowserENSG00000165533
Varsome BrowserTTC8
ACMGTTC8 variants
VarityQ8TAM2
Genomic Variants (DGV)TTC8 [DGVbeta]
DECIPHERTTC8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTTC8 
Mutations
ICGC Data PortalTTC8 
TCGA Data PortalTTC8 
Broad Tumor PortalTTC8
OASIS PortalTTC8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTTC8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTTC8
Mutations and Diseases : HGMDTTC8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTTC8
DgiDB (Drug Gene Interaction Database)TTC8
DoCM (Curated mutations)TTC8
CIViC (Clinical Interpretations of Variants in Cancer)TTC8
Cancer3DTTC8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608132    613464    615985   
Orphanet659    3244   
DisGeNETTTC8
MedgenTTC8
Genetic Testing Registry TTC8
NextProtQ8TAM2 [Medical]
GENETestsTTC8
Target ValidationTTC8
Huge Navigator TTC8 [HugePedia]
ClinGenTTC8
Clinical trials, drugs, therapy
MyCancerGenomeTTC8
Protein Interactions : CTDTTC8
Pharm GKB GenePA134877629
PharosQ8TAM2
Clinical trialTTC8
Miscellaneous
canSAR (ICR)TTC8
HarmonizomeTTC8
DataMed IndexTTC8
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTTC8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:27:21 CEST 2021

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