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NIPBL (Nipped-B homolog (Drosophila))

Identity

Alias_namesNipped-B homolog (Drosophila)
Alias_symbol (synonym)IDN3
DKFZp434L1319
FLJ11203
FLJ12597
FLJ13354
FLJ13648
Scc2
Other aliasCDLS
CDLS1
IDN3-B
HGNC (Hugo) NIPBL
LocusID (NCBI) 25836
Atlas_Id 40917
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 36876861 and ends at 37065921 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARID1A (1p36.11) / NIPBL (5p13.2)DSCR3 (21q22.13) / NIPBL (5p13.2)NIPBL (5p13.2) / ANKRD17 (4q13.3)
NIPBL (5p13.2) / ATP2A2 (12q24.11)NIPBL (5p13.2) / CLSPN (1p34.3)NIPBL (5p13.2) / FGF10 (5p12)
NIPBL (5p13.2) / HOXB9 (17q21.32)NIPBL (5p13.2) / MYO10 (5p15.1)NIPBL (5p13.2) / NIPBL (5p13.2)
NIPBL (5p13.2) / SLC1A3 (5p13.2)NIPBL (5p13.2) / SLC30A9 (4p13)NIPBL (5p13.2) / SPEF2 (5p13.2)
NIPBL (5p13.2) / TAS2R1 (5p15.31)PTPRC (1q31.3) / NIPBL (5p13.2)RSRC2 (12q24.31) / NIPBL (5p13.2)
VPS26A (10q22.1) / NIPBL (5p13.2)ARID1A 1p36.11 / NIPBL 5p13.2DSCR3 21q22.13 / NIPBL 5p13.2
NIPBL 5p13.2 / ANKRD17 4q13.3NIPBL 5p13.2 / ATP2A2 12q24.11NIPBL 5p13.2 / CLSPN 1p34.3
NIPBL 5p13.2 / FGF10 5p12NIPBL 5p13.2 / MYO10 5p15.1NIPBL 5p13.2 / SLC1A3 5p13.2
NIPBL 5p13.2 / SLC30A9 4p13NIPBL 5p13.2 / SPEF2 5p13.2

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;12)(p13;p13) NIPBL/ETV6


External links

Nomenclature
HGNC (Hugo)NIPBL   28862
Cards
Entrez_Gene (NCBI)NIPBL  25836  Nipped-B homolog (Drosophila)
AliasesCDLS; CDLS1; IDN3; IDN3-B; 
Scc2
GeneCards (Weizmann)NIPBL
Ensembl hg19 (Hinxton)ENSG00000164190 [Gene_View]  chr5:36876861-37065921 [Contig_View]  NIPBL [Vega]
Ensembl hg38 (Hinxton)ENSG00000164190 [Gene_View]  chr5:36876861-37065921 [Contig_View]  NIPBL [Vega]
ICGC DataPortalENSG00000164190
TCGA cBioPortalNIPBL
AceView (NCBI)NIPBL
Genatlas (Paris)NIPBL
WikiGenes25836
SOURCE (Princeton)NIPBL
Genetics Home Reference (NIH)NIPBL
Genomic and cartography
GoldenPath hg19 (UCSC)NIPBL  -     chr5:36876861-37065921 +  5p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NIPBL  -     5p13.2   [Description]    (hg38-Dec_2013)
EnsemblNIPBL - 5p13.2 [CytoView hg19]  NIPBL - 5p13.2 [CytoView hg38]
Mapping of homologs : NCBINIPBL [Mapview hg19]  NIPBL [Mapview hg38]
OMIM122470   608667   
Gene and transcription
Genbank (Entrez)AA508213 AJ627032 AJ640137 AK002065 AK022659
RefSeq transcript (Entrez)NM_015384 NM_133433
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_006987 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)NIPBL
Cluster EST : UnigeneHs.481927 [ NCBI ]
CGAP (NCI)Hs.481927
Alternative Splicing GalleryENSG00000164190
Gene ExpressionNIPBL [ NCBI-GEO ]   NIPBL [ EBI - ARRAY_EXPRESS ]   NIPBL [ SEEK ]   NIPBL [ MEM ]
Gene Expression Viewer (FireBrowse)NIPBL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25836
GTEX Portal (Tissue expression)NIPBL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6KC79   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6KC79  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6KC79
Splice isoforms : SwissVarQ6KC79
PhosPhoSitePlusQ6KC79
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Cohesin_HEAT    Nipped-B_C    SCC2/Nipped-B   
Domain families : Pfam (Sanger)Cohesin_HEAT (PF12765)    Nipped-B_C (PF12830)   
Domain families : Pfam (NCBI)pfam12765    pfam12830   
Conserved Domain (NCBI)NIPBL
DMDM Disease mutations25836
Blocks (Seattle)NIPBL
SuperfamilyQ6KC79
Human Protein AtlasENSG00000164190
Peptide AtlasQ6KC79
HPRD10560
IPIIPI00436632   IPI00026466   IPI00436634   IPI00966612   IPI00964506   
Protein Interaction databases
DIP (DOE-UCLA)Q6KC79
IntAct (EBI)Q6KC79
FunCoupENSG00000164190
BioGRIDNIPBL
STRING (EMBL)NIPBL
ZODIACNIPBL
Ontologies - Pathways
QuickGOQ6KC79
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  chromatin  metanephros development  heart morphogenesis  outflow tract morphogenesis  chromatin binding  protein binding  nucleus  nucleoplasm  cellular response to DNA damage stimulus  mitotic sister chromatid cohesion  brain development  sensory perception of sound  protein C-terminus binding  stem cell population maintenance  positive regulation of histone deacetylation  SMC loading complex  maintenance of mitotic sister chromatid cohesion  cellular protein localization  embryonic forelimb morphogenesis  forelimb morphogenesis  external genitalia morphogenesis  mediator complex binding  positive regulation of multicellular organism growth  ear morphogenesis  regulation of hair cycle  histone deacetylase binding  fat cell differentiation  positive regulation of ossification  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  regulation of embryonic development  protein N-terminus binding  embryonic digestive tract morphogenesis  developmental growth  eye morphogenesis  regulation of developmental growth  embryonic viscerocranium morphogenesis  cognition  face morphogenesis  gall bladder development  uterus morphogenesis  extracellular exosome  chromo shadow domain binding  cellular response to X-ray  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  chromatin  metanephros development  heart morphogenesis  outflow tract morphogenesis  chromatin binding  protein binding  nucleus  nucleoplasm  cellular response to DNA damage stimulus  mitotic sister chromatid cohesion  brain development  sensory perception of sound  protein C-terminus binding  stem cell population maintenance  positive regulation of histone deacetylation  SMC loading complex  maintenance of mitotic sister chromatid cohesion  cellular protein localization  embryonic forelimb morphogenesis  forelimb morphogenesis  external genitalia morphogenesis  mediator complex binding  positive regulation of multicellular organism growth  ear morphogenesis  regulation of hair cycle  histone deacetylase binding  fat cell differentiation  positive regulation of ossification  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  regulation of embryonic development  protein N-terminus binding  embryonic digestive tract morphogenesis  developmental growth  eye morphogenesis  regulation of developmental growth  embryonic viscerocranium morphogenesis  cognition  face morphogenesis  gall bladder development  uterus morphogenesis  extracellular exosome  chromo shadow domain binding  cellular response to X-ray  
NDEx NetworkNIPBL
Atlas of Cancer Signalling NetworkNIPBL
Wikipedia pathwaysNIPBL
Orthology - Evolution
OrthoDB25836
GeneTree (enSembl)ENSG00000164190
Phylogenetic Trees/Animal Genes : TreeFamNIPBL
HOVERGENQ6KC79
HOGENOMQ6KC79
Homologs : HomoloGeneNIPBL
Homology/Alignments : Family Browser (UCSC)NIPBL
Gene fusions - Rearrangements
Fusion : MitelmanARID1A/NIPBL [1p36.11/5p13.2]  [t(1;5)(p36;p13)]  
Fusion : MitelmanDSCR3/NIPBL [21q22.13/5p13.2]  [t(5;21)(p13;q22)]  
Fusion : MitelmanNIPBL/ANKRD17 [5p13.2/4q13.3]  [t(4;5)(q13;p13)]  
Fusion : MitelmanNIPBL/ATP2A2 [5p13.2/12q24.11]  [t(5;12)(p13;q24)]  
Fusion : MitelmanNIPBL/CLSPN [5p13.2/1p34.3]  [t(1;5)(p34;p13)]  
Fusion : MitelmanNIPBL/FGF10 [5p13.2/5p12]  [t(5;5)(p12;p13)]  
Fusion : MitelmanNIPBL/HOXB9 [5p13.2/17q21.32]  [t(5;17)(p13;q21)]  
Fusion : MitelmanNIPBL/MYO10 [5p13.2/5p15.1]  [t(5;5)(p13;p15)]  
Fusion : MitelmanNIPBL/SLC1A3 [5p13.2/5p13.2]  [t(5;5)(p13;p13)]  
Fusion : MitelmanNIPBL/SLC30A9 [5p13.2/4p13]  [t(4;5)(p13;p13)]  
Fusion : MitelmanNIPBL/SPEF2 [5p13.2/5p13.2]  [t(5;5)(p13;p13)]  
Fusion : MitelmanNIPBL/TAS2R1 [5p13.2/5p15.31]  [t(5;5)(p13;p15)]  
Fusion: TCGAARID1A 1p36.11 NIPBL 5p13.2 LUSC
Fusion: TCGADSCR3 21q22.13 NIPBL 5p13.2 LGG
Fusion: TCGANIPBL 5p13.2 ANKRD17 4q13.3 BRCA
Fusion: TCGANIPBL 5p13.2 ATP2A2 12q24.11 LUAD
Fusion: TCGANIPBL 5p13.2 CLSPN 1p34.3 BRCA
Fusion: TCGANIPBL 5p13.2 FGF10 5p12 LUSC
Fusion: TCGANIPBL 5p13.2 MYO10 5p15.1 LUAD
Fusion: TCGANIPBL 5p13.2 SLC1A3 5p13.2 LUAD
Fusion: TCGANIPBL 5p13.2 SLC30A9 4p13 BRCA
Fusion: TCGANIPBL 5p13.2 SPEF2 5p13.2 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNIPBL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NIPBL
dbVarNIPBL
ClinVarNIPBL
1000_GenomesNIPBL 
Exome Variant ServerNIPBL
ExAC (Exome Aggregation Consortium)NIPBL (select the gene name)
Genetic variants : HAPMAP25836
Genomic Variants (DGV)NIPBL [DGVbeta]
DECIPHER (Syndromes)5:36876861-37065921  ENSG00000164190
CONAN: Copy Number AnalysisNIPBL 
Mutations
ICGC Data PortalNIPBL 
TCGA Data PortalNIPBL 
Broad Tumor PortalNIPBL
OASIS PortalNIPBL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNIPBL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNIPBL
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
LOVD (Leiden Open Variation Database)MRC Human Genetics Unit LOVD at MRC IGMM
BioMutasearch NIPBL
DgiDB (Drug Gene Interaction Database)NIPBL
DoCM (Curated mutations)NIPBL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NIPBL (select a term)
intoGenNIPBL
Cancer3DNIPBL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM122470    608667   
Orphanet299    21940   
MedgenNIPBL
Genetic Testing Registry NIPBL
NextProtQ6KC79 [Medical]
TSGene25836
GENETestsNIPBL
Huge Navigator NIPBL [HugePedia]
snp3D : Map Gene to Disease25836
BioCentury BCIQNIPBL
ClinGenNIPBL (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25836
Chemical/Pharm GKB GenePA134962343
Clinical trialNIPBL
Miscellaneous
canSAR (ICR)NIPBL (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNIPBL
EVEXNIPBL
GoPubMedNIPBL
iHOPNIPBL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:18:51 CET 2017

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