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BTBD7 (BTB domain containing 7)

Identity

Alias_namesBTB (POZ) domain containing 7
Alias_symbol (synonym)FLJ10648
FUP1
Other alias
HGNC (Hugo) BTBD7
LocusID (NCBI) 55727
Atlas_Id 847
Location 14q32.12  [Link to chromosome band 14q32]
Location_base_pair Starts at 93703896 and ends at 93799438 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  55727  BTB domain containing 7
AliasesFUP1
GeneCards (Weizmann)BTBD7
Ensembl hg19 (Hinxton)ENSG00000011114 [Gene_View]  chr14:93703896-93799438 [Contig_View]  BTBD7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000011114 [Gene_View]  chr14:93703896-93799438 [Contig_View]  BTBD7 [Vega]
ICGC DataPortalENSG00000011114
TCGA cBioPortalBTBD7
AceView (NCBI)BTBD7
Genatlas (Paris)BTBD7
WikiGenes55727
SOURCE (Princeton)BTBD7
Genetics Home Reference (NIH)BTBD7
Genomic and cartography
GoldenPath hg19 (UCSC)BTBD7  -     chr14:93703896-93799438 -  14q32.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BTBD7  -     14q32.12   [Description]    (hg38-Dec_2013)
EnsemblBTBD7 - 14q32.12 [CytoView hg19]  BTBD7 - 14q32.12 [CytoView hg38]
Mapping of homologs : NCBIBTBD7 [Mapview hg19]  BTBD7 [Mapview hg38]
OMIM610386   
Gene and transcription
Genbank (Entrez)AB040958 AI452701 AK001510 AK021953 AK074354
RefSeq transcript (Entrez)NM_001002860 NM_001289133 NM_018167
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NT_187601 NW_004929393
Consensus coding sequences : CCDS (NCBI)BTBD7
Cluster EST : UnigeneHs.525549 [ NCBI ]
CGAP (NCI)Hs.525549
Alternative Splicing GalleryENSG00000011114
Gene ExpressionBTBD7 [ NCBI-GEO ]   BTBD7 [ EBI - ARRAY_EXPRESS ]   BTBD7 [ SEEK ]   BTBD7 [ MEM ]
Gene Expression Viewer (FireBrowse)BTBD7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55727
GTEX Portal (Tissue expression)BTBD7
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
Splice isoforms : SwissVarQ9P203
PhosPhoSitePlusQ9P203
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB/POZ_dom    SKP1/BTB/POZ   
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
DMDM Disease mutations55727
Blocks (Seattle)BTBD7
SuperfamilyQ9P203
Human Protein AtlasENSG00000011114
Peptide AtlasQ9P203
HPRD12541
IPIIPI00002061   IPI00018802   IPI00479933   IPI00910982   IPI01026298   IPI01025672   IPI01026397   IPI01024799   
Protein Interaction databases
DIP (DOE-UCLA)Q9P203
IntAct (EBI)Q9P203
FunCoupENSG00000011114
BioGRIDBTBD7
STRING (EMBL)BTBD7
ZODIACBTBD7
Ontologies - Pathways
QuickGOQ9P203
Ontology : AmiGOnucleus  multicellular organism development  regulation of branching involved in salivary gland morphogenesis  
Ontology : EGO-EBInucleus  multicellular organism development  regulation of branching involved in salivary gland morphogenesis  
NDEx NetworkBTBD7
Atlas of Cancer Signalling NetworkBTBD7
Wikipedia pathwaysBTBD7
Orthology - Evolution
OrthoDB55727
GeneTree (enSembl)ENSG00000011114
Phylogenetic Trees/Animal Genes : TreeFamBTBD7
HOVERGENQ9P203
HOGENOMQ9P203
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]  [t(14;14)(q32;q32)]  
Fusion : MitelmanTARBP1/BTBD7 [1q42.2/14q32.12]  [t(1;14)(q42;q32)]  
Fusion : MitelmanUBR7/BTBD7 [14q32.12/14q32.12]  [t(14;14)(q32;q32)]  
Fusion: TCGABTBD7 14q32.12 UBR7 14q32.12 BRCA
Fusion: TCGAITPK1 14q32.12 BTBD7 14q32.12 LUAD
Fusion: TCGATARBP1 1q42.2 BTBD7 14q32.12 LUAD
Fusion: TCGAUBR7 14q32.12 BTBD7 14q32.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBTBD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BTBD7
dbVarBTBD7
ClinVarBTBD7
1000_GenomesBTBD7 
Exome Variant ServerBTBD7
ExAC (Exome Aggregation Consortium)BTBD7 (select the gene name)
Genetic variants : HAPMAP55727
Genomic Variants (DGV)BTBD7 [DGVbeta]
DECIPHER (Syndromes)14:93703896-93799438  ENSG00000011114
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]  
Mutations and Diseases : HGMDBTBD7
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 BTBD7
DgiDB (Drug Gene Interaction Database)BTBD7
DoCM (Curated mutations)BTBD7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BTBD7 (select a term)
intoGenBTBD7
Cancer3DBTBD7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610386   
Orphanet
MedgenBTBD7
Genetic Testing Registry BTBD7
NextProtQ9P203 [Medical]
TSGene55727
GENETestsBTBD7
Huge Navigator BTBD7 [HugePedia]
snp3D : Map Gene to Disease55727
BioCentury BCIQBTBD7
ClinGenBTBD7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55727
Chemical/Pharm GKB GenePA134938971
Clinical trialBTBD7
Miscellaneous
canSAR (ICR)BTBD7 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBTBD7
EVEXBTBD7
GoPubMedBTBD7
iHOPBTBD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:57:54 CET 2017

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