Gene Information
|
Gene Name
|
EVC2 |
|
Gene ID
|
132884
|
|
Gene Full Name
|
EvC ciliary complex subunit 2 |
|
Gene Alias
|
LBN|WAD |
|
Transcripts
|
ENSG00000173040
|
|
Virus
|
HBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Microtubules, Cytokinetic bridge;Nucleoplasm, Cytosol;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted membrane proteins |
|
Uniport_ID
|
Q86UK5
|
|
HGNC ID
|
HGNC:19747
|
|
OMIM ID
|
607261 |
|
Summary
|
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
Target gene [EVC2] 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 |
| 1003784 |
chr4 |
36 |
4 |
69 |
109 |
View |
| 1013263 |
chr4 |
4 |
1 |
0 |
5 |
View |
| 1042828 |
chr4 |
9 |
1 |
17 |
27 |
View |
Target gene [EVC2] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
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 gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE68402 - EVC2 peak across samples
|
Peak Plot
|
> Dataset: GSE131257 - EVC2 peak across samples
|
Peak Plot
|
|
|