AHI1
| Name | Synonyms | Full Name | RefSeq ID | Description (.pdf) | IGV-img (humangenome) | Sashimi-img (humangenome) | UCSC-img (humangenome) | IGV-img (batgenome) |
|---|---|---|---|---|---|---|---|---|
| AHI1 | Jouberin, ORF1, JBTS3,FLJ20069 | Abelson helper integration site 1 | NM_017651 |  |
NONE |  |
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Download all snapshots for IGV, UCSC and Sashimi (zip archive)
Description
The gene AHI1 is weakly expressed in all datasets of human and bat, without significant changes in expression profiles. This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Oct 2008)
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 | 64 | 68 | 77 | 47 | 81 | 114 | 62 | 94 | 49 |
Read_Max |  | R. aegyptiacus | Transcriptome | 82 | 54 | 63 | 81 | 70 | 108 | 50 | 79 | 72 |
Read_Max |  | R. aegyptiacus | Genome | 113 | 119 | 71 | 66 | 95 | 72 | 73 | 153 | 95 |
DESeq | | H. sapiens | Genome | 960.99 | 1158.56 | 1289.69 | 887.31 | 1216.36 | 1777.49 | 972.94 | 1059.34 | 1123.14 |
DESeq | | R. aegyptiacus | Transcriptome | 745.36 | 523.83 | 816.99 | 824.19 | 823.41 | 1281.62 | 797.48 | 733.85 | 839.85 |
DESeq | | R. aegyptiacus | Genome | 1195.41 | 1421.96 | 1501.84 | 1012.17 | 1607.23 | 2066.46 | 1475.39 | 1415.41 | 1467.51 |