Gene Information
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Gene Name
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NIPBL |
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Gene ID
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25836
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Gene Full Name
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NIPBL cohesin loading factor |
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Gene Alias
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CDLS|CDLS1|IDN3|IDN3-B|Scc2 |
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Transcripts
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ENSG00000164190
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Virus
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HBV |
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Gene Type
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protein-coding |
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HPA Location Info
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Nucleoplasm;Vesicles, Cytosol;
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Membrane Info
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Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins |
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Uniport_ID
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Q6KC79
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HGNC ID
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HGNC:28862
|
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OMIM ID
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608667 |
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Summary
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This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
Target gene [NIPBL] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 1015273 |
chr5 |
0 |
2 |
0 |
2 |
View |
| 1022043 |
chr5 |
0 |
2 |
0 |
2 |
View |
| 1043041 |
chr5 |
4 |
9 |
1 |
14 |
View |
Target gene [NIPBL] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE252863
|
scRNA-seq |
10 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
C GSE35465
|
Chip-seq;RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
GSE199850
|
scRNA-seq |
1 |
HiSeq X Ten (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
S GSE247322
|
scRNA-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
C GSE270130
|
Chip-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
|
GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.
> Dataset: GSE247322 - Gene expression in cell subsets
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