CAV3
| Name | Synonyms | Full Name | RefSeq ID | Description (.pdf) | IGV-img (humangenome) | Sashimi-img (humangenome) | UCSC-img (humangenome) | IGV-img (batgenome) |
|---|---|---|---|---|---|---|---|---|
| CAV3 | A8K777, CAV3_HUMAN, NM_001234, NP_203123, P56539, Q3T1A4,VIP-21, LGMD1C, VIP21, LQT9 | caveolin 3 | NM_033337 |  |
NONE |  |
 |
Download all snapshots for IGV, UCSC and Sashimi (zip archive)
Description
This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron.
The gene is not expressed.
Maximum read counts and DESeq normalized read counts for human and bat cell lines
| Source | Species | Mapping on | Mock3h | Mock7h | Mock23h | EBOV3h | EBOV7h | EBOV23h | MARV3h | MARV7h | MARV23h | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Read_Max |  | H. sapiens | Genome | 2 | 1 | 0 | 0 | 3 | 6 | 0 | 1 | 2 |
Read_Max |  | R. aegyptiacus | Transcriptome | NA | NA | NA | NA | NA | NA | NA | NA | NA |
Read_Max |  | R. aegyptiacus | Genome | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 3 | 0 |
DESeq | | H. sapiens | Genome | 5.06 | 5.08 | 1.0 | 1.0 | 8.32 | 8.9 | 1.0 | 1.8 | 5.35 |
DESeq | | R. aegyptiacus | Transcriptome | NA | NA | NA | NA | NA | NA | NA | NA | NA |
DESeq | | R. aegyptiacus | Genome | 0.0 | 0.0 | 4.46 | 0.0 | 0.0 | 0.0 | 0.0 | 1.59 | 0.0 |