Gene Information
|
Gene Name
|
EVC2 |
|
Gene ID
|
132884
|
|
Gene Full Name
|
EvC ciliary complex subunit 2 |
|
Gene Alias
|
LBN|WAD |
|
Transcripts
|
ENSG00000173040
|
|
Virus
|
HTLV1 |
|
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 |
| 6015702 |
chr4 |
12 |
1 |
0 |
13 |
View |
| 6023219 |
chr4 |
3 |
1 |
0 |
4 |
View |
| 6025729 |
chr4 |
2 |
0 |
1 |
3 |
View |
Target gene [EVC2] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - EVC2 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
