OFD1
| Name | Synonyms | Full Name | RefSeq ID | Description (.pdf) | IGV-img (humangenome) | Sashimi-img (humangenome) | UCSC-img (humangenome) | IGV-img (batgenome) |
|---|---|---|---|---|---|---|---|---|
| OFD1 | 71-7A, CXorf5, JBTS10, RP23, SGBS2 | oral-facial-digital syndrome 1 | NM_003611 | ![]() |
Download all snapshots for IGV, UCSC and Sashimi (zip archive)
Description
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined.
There is a downregulation in human cells Marburg infected cells after 23 h. Homolog in bat cells is stably 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 | 53 | 50 | 44 | 42 | 64 | 88 | 75 | 75 | 51 | |
Read_Max | R. aegyptiacus | Transcriptome | 114 | 110 | 96 | 108 | 84 | 119 | 90 | 139 | 137 | |
Read_Max | R. aegyptiacus | Genome | 121 | 104 | 82 | 100 | 72 | 65 | 75 | 182 | 134 | |
DESeq | H. sapiens | Genome | 877.78 | 824.04 | 994.82 | 931.8 | 968.41 | 1465.62 | 946.63 | 859.5 | 1218.83 | |
DESeq | R. aegyptiacus | Transcriptome | 1255.33 | 1222.75 | 1347.13 | 1327.8 | 1266.92 | 1461.26 | 1249.12 | 1326.24 | 1315.69 | |
DESeq | R. aegyptiacus | Genome | 2508.56 | 2686.94 | 2731.42 | 2349.22 | 2485.63 | 2938.48 | 2493.09 | 2808.61 | 2631.08 |
