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BTBD7 (BTB domain containing 7)

Identity

Alias (NCBI)FUP1
HGNC (Hugo) BTBD7
HGNC Alias symbFLJ10648
FUP1
HGNC Previous nameBTB (POZ) domain containing 7
LocusID (NCBI) 55727
Atlas_Id 847
Location 14q32.12  [Link to chromosome band 14q32]
Location_base_pair Starts at 93287628 and ends at 93333036 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)
BTBD7 (14q32.12) / EEF1A1 (6q13)BTBD7 (14q32.12) / FARSB (2q36.1)BTBD7 (14q32.12) / UBR7 (14q32.12)
FARSB (2q36.1) / BTBD7 (14q32.12)ITPK1 (14q32.12) / BTBD7 (14q32.12)TARBP1 (1q42.2) / BTBD7 (14q32.12)
UBR7 (14q32.12) / BTBD7 (14q32.12)BTBD7 14q32.12 / UBR7 14q32.12ITPK1 14q32.12 / BTBD7 14q32.12
TARBP1 1q42.2 / BTBD7 14q32.12UBR7 14q32.12 / BTBD7 14q32.12

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)BTBD7   18269
Cards
Entrez_Gene (NCBI)BTBD7    BTB domain containing 7
AliasesFUP1
GeneCards (Weizmann)BTBD7
Ensembl hg19 (Hinxton)ENSG00000011114 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000011114 [Gene_View]  ENSG00000011114 [Sequence]  chr14:93287628-93333036 [Contig_View]  BTBD7 [Vega]
ICGC DataPortalENSG00000011114
TCGA cBioPortalBTBD7
AceView (NCBI)BTBD7
Genatlas (Paris)BTBD7
SOURCE (Princeton)BTBD7
Genetics Home Reference (NIH)BTBD7
Genomic and cartography
GoldenPath hg38 (UCSC)BTBD7  -     chr14:93287628-93333036 -  14q32.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BTBD7  -     14q32.12   [Description]    (hg19-Feb_2009)
GoldenPathBTBD7 - 14q32.12 [CytoView hg19]  BTBD7 - 14q32.12 [CytoView hg38]
ImmunoBaseENSG00000011114
Genome Data Viewer NCBIBTBD7 [Mapview hg19]  
OMIM610386   
Gene and transcription
Genbank (Entrez)AB040958 AI452701 AK001510 AK021953 AK074354
RefSeq transcript (Entrez)NM_001002860 NM_001289133 NM_018167
Consensus coding sequences : CCDS (NCBI)BTBD7
Gene ExpressionBTBD7 [ NCBI-GEO ]   BTBD7 [ EBI - ARRAY_EXPRESS ]   BTBD7 [ SEEK ]   BTBD7 [ MEM ]
Gene Expression Viewer (FireBrowse)BTBD7 [ Firebrowse - Broad ]
GenevisibleExpression of BTBD7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55727
GTEX Portal (Tissue expression)BTBD7
Human Protein AtlasENSG00000011114-BTBD7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P203   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P203  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P203
PhosPhoSitePlusQ9P203
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB/POZ_dom    Btbd7    SKP1/BTB/POZ_sf   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)   
Domain families : Pfam (NCBI)pfam07707    pfam00651   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  
Conserved Domain (NCBI)BTBD7
SuperfamilyQ9P203
AlphaFold pdb e-kbQ9P203   
Human Protein Atlas [tissue]ENSG00000011114-BTBD7 [tissue]
HPRD12541
Protein Interaction databases
DIP (DOE-UCLA)Q9P203
IntAct (EBI)Q9P203
BioGRIDBTBD7
STRING (EMBL)BTBD7
ZODIACBTBD7
Ontologies - Pathways
QuickGOQ9P203
Ontology : AmiGOnucleus  multicellular organism development  regulation of branching involved in salivary gland morphogenesis  morphogenesis of a branching epithelium  
Ontology : EGO-EBInucleus  multicellular organism development  regulation of branching involved in salivary gland morphogenesis  morphogenesis of a branching epithelium  
NDEx NetworkBTBD7
Atlas of Cancer Signalling NetworkBTBD7
Wikipedia pathwaysBTBD7
Orthology - Evolution
OrthoDB55727
GeneTree (enSembl)ENSG00000011114
Phylogenetic Trees/Animal Genes : TreeFamBTBD7
Homologs : HomoloGeneBTBD7
Homology/Alignments : Family Browser (UCSC)BTBD7
Gene fusions - Rearrangements
Fusion : MitelmanBTBD7/UBR7 [14q32.12/14q32.12]  
Fusion : MitelmanITPK1/BTBD7 [14q32.12/14q32.12]  
Fusion : MitelmanTARBP1/BTBD7 [1q42.2/14q32.12]  
Fusion : MitelmanUBR7/BTBD7 [14q32.12/14q32.12]  
Fusion : QuiverBTBD7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTBD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTBD7
dbVarBTBD7
ClinVarBTBD7
MonarchBTBD7
1000_GenomesBTBD7 
Exome Variant ServerBTBD7
GNOMAD BrowserENSG00000011114
Varsome BrowserBTBD7
ACMGBTBD7 variants
VarityQ9P203
Genomic Variants (DGV)BTBD7 [DGVbeta]
DECIPHERBTBD7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBTBD7 
Mutations
ICGC Data PortalBTBD7 
TCGA Data PortalBTBD7 
Broad Tumor PortalBTBD7
OASIS PortalBTBD7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBTBD7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBTBD7
Mutations and Diseases : HGMDBTBD7
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBTBD7
DgiDB (Drug Gene Interaction Database)BTBD7
DoCM (Curated mutations)BTBD7
CIViC (Clinical Interpretations of Variants in Cancer)BTBD7
Cancer3DBTBD7
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610386   
Orphanet
DisGeNETBTBD7
MedgenBTBD7
Genetic Testing Registry BTBD7
NextProtQ9P203 [Medical]
GENETestsBTBD7
Target ValidationBTBD7
Huge Navigator BTBD7 [HugePedia]
ClinGenBTBD7
Clinical trials, drugs, therapy
MyCancerGenomeBTBD7
Protein Interactions : CTDBTBD7
Pharm GKB GenePA134938971
PharosQ9P203
Clinical trialBTBD7
Miscellaneous
canSAR (ICR)BTBD7
HarmonizomeBTBD7
DataMed IndexBTBD7
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBTBD7
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 15:01:31 CEST 2021

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