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B9D1 (B9 protein domain 1)

Identity

Alias_namesB9 protein domain 1
Alias_symbol (synonym)B9
EPPB9
MKS9
Other aliasMKSR1
HGNC (Hugo) B9D1
LocusID (NCBI) 27077
Atlas_Id 60691
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 19246483 and ends at 19266046 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
B9D1 (17p11.2) / EPN2 (17p11.2)

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)B9D1   24123
LRG (Locus Reference Genomic)LRG_686
Cards
Entrez_Gene (NCBI)B9D1  27077  B9 protein domain 1
AliasesB9; EPPB9; MKS9; MKSR1
GeneCards (Weizmann)B9D1
Ensembl hg19 (Hinxton)ENSG00000108641 [Gene_View]  chr17:19246483-19266046 [Contig_View]  B9D1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108641 [Gene_View]  chr17:19246483-19266046 [Contig_View]  B9D1 [Vega]
ICGC DataPortalENSG00000108641
TCGA cBioPortalB9D1
AceView (NCBI)B9D1
Genatlas (Paris)B9D1
WikiGenes27077
SOURCE (Princeton)B9D1
Genetics Home Reference (NIH)B9D1
Genomic and cartography
GoldenPath hg19 (UCSC)B9D1  -     chr17:19246483-19266046 -  17p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)B9D1  -     17p11.2   [Description]    (hg38-Dec_2013)
EnsemblB9D1 - 17p11.2 [CytoView hg19]  B9D1 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIB9D1 [Mapview hg19]  B9D1 [Mapview hg38]
OMIM614144   614209   
Gene and transcription
Genbank (Entrez)AB030506 AI300844 AK293815 AK297782 AK309320
RefSeq transcript (Entrez)NM_001243473 NM_001243475 NM_015681
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_031885 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)B9D1
Cluster EST : UnigeneHs.462445 [ NCBI ]
CGAP (NCI)Hs.462445
Alternative Splicing GalleryENSG00000108641
Gene ExpressionB9D1 [ NCBI-GEO ]   B9D1 [ EBI - ARRAY_EXPRESS ]   B9D1 [ SEEK ]   B9D1 [ MEM ]
Gene Expression Viewer (FireBrowse)B9D1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27077
GTEX Portal (Tissue expression)B9D1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPM9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPM9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPM9
Splice isoforms : SwissVarQ9UPM9
PhosPhoSitePlusQ9UPM9
Domaine pattern : Prosite (Expaxy)B9 (PS51381)   
Domains : Interpro (EBI)B9_dom   
Domain families : Pfam (Sanger)B9-C2 (PF07162)   
Domain families : Pfam (NCBI)pfam07162   
Conserved Domain (NCBI)B9D1
DMDM Disease mutations27077
Blocks (Seattle)B9D1
SuperfamilyQ9UPM9
Human Protein AtlasENSG00000108641
Peptide AtlasQ9UPM9
HPRD16866
IPIIPI00024153   IPI00024528   IPI00796083   IPI00797858   IPI00794836   IPI00795389   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPM9
IntAct (EBI)Q9UPM9
FunCoupENSG00000108641
BioGRIDB9D1
STRING (EMBL)B9D1
ZODIACB9D1
Ontologies - Pathways
QuickGOQ9UPM9
Ontology : AmiGOin utero embryonic development  vasculature development  centrosome  cytosol  organelle organization  smoothened signaling pathway  hedgehog receptor activity  membrane  regulation of protein localization  ciliary transition zone  TCTN-B9D complex  ciliary basal body  cilium assembly  embryonic digit morphogenesis  camera-type eye development  cilium morphogenesis  neuroepithelial cell differentiation  
Ontology : EGO-EBIin utero embryonic development  vasculature development  centrosome  cytosol  organelle organization  smoothened signaling pathway  hedgehog receptor activity  membrane  regulation of protein localization  ciliary transition zone  TCTN-B9D complex  ciliary basal body  cilium assembly  embryonic digit morphogenesis  camera-type eye development  cilium morphogenesis  neuroepithelial cell differentiation  
NDEx NetworkB9D1
Atlas of Cancer Signalling NetworkB9D1
Wikipedia pathwaysB9D1
Orthology - Evolution
OrthoDB27077
GeneTree (enSembl)ENSG00000108641
Phylogenetic Trees/Animal Genes : TreeFamB9D1
HOVERGENQ9UPM9
HOGENOMQ9UPM9
Homologs : HomoloGeneB9D1
Homology/Alignments : Family Browser (UCSC)B9D1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB9D1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B9D1
dbVarB9D1
ClinVarB9D1
1000_GenomesB9D1 
Exome Variant ServerB9D1
ExAC (Exome Aggregation Consortium)B9D1 (select the gene name)
Genetic variants : HAPMAP27077
Genomic Variants (DGV)B9D1 [DGVbeta]
DECIPHER (Syndromes)17:19246483-19266046  ENSG00000108641
CONAN: Copy Number AnalysisB9D1 
Mutations
ICGC Data PortalB9D1 
TCGA Data PortalB9D1 
Broad Tumor PortalB9D1
OASIS PortalB9D1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB9D1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB9D1
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 B9D1
DgiDB (Drug Gene Interaction Database)B9D1
DoCM (Curated mutations)B9D1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B9D1 (select a term)
intoGenB9D1
Cancer3DB9D1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614144    614209   
Orphanet280    1022   
MedgenB9D1
Genetic Testing Registry B9D1
NextProtQ9UPM9 [Medical]
TSGene27077
GENETestsB9D1
Huge Navigator B9D1 [HugePedia]
snp3D : Map Gene to Disease27077
BioCentury BCIQB9D1
ClinGenB9D1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27077
Chemical/Pharm GKB GenePA162377328
Clinical trialB9D1
Miscellaneous
canSAR (ICR)B9D1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB9D1
EVEXB9D1
GoPubMedB9D1
iHOPB9D1
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 11:55:36 CET 2017

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