Gene Information
|
Gene Name
|
NEB |
|
Gene ID
|
4703
|
|
Gene Full Name
|
nebulin |
|
Gene Alias
|
AMC6|NEB177D|NEM2 |
|
Transcripts
|
ENSG00000183091
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins |
|
Uniport_ID
|
P20929
|
|
HGNC ID
|
HGNC:7720
|
|
OMIM ID
|
161650 |
|
Summary
|
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] |
Target gene [NEB] 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 |
| 5005242 |
chr2 |
162 |
36 |
122 |
320 |
View |
| 5013238 |
chr2 |
2 |
1 |
1 |
4 |
View |
Target gene [NEB] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE169622
|
Methylation profiling (Array) |
9 |
Infinium MethylationEPIC |
|
GSE65858
|
Expression array |
270 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE181805
|
Expression array |
25 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE196215
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE140662
|
Expression array |
8 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE55542
|
Expression array |
36 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
C GSE143026
|
ATAC-seq;Chip-seq;RNA-seq |
30 |
Illumina HiSeq 2500 (Homo sapiens) |
|
E TCGA_CESC
|
DNA methylation sequencing;RNA-seq |
288 |
TCGA |
|
GSE51993
|
Expression array |
48 |
Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip |
|
E GSE55550
|
Expression array |
155 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
GSE165883
|
RNA-seq |
20 |
Illumina NextSeq 500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.
> Dataset: TCGA_CESC - NEB expression across samples
|
Volcano Plot
|
Bar Plot
|
> Dataset: GSE55550 - NEB expression across samples
|
Volcano Plot
|
Bar Plot
|
|
|
HPV Target gene Detail Information
