ATXN2

NameSynonymsFull NameRefSeq IDDescription (.pdf)IGV-img (humangenome)Sashimi-img (humangenome)UCSC-img (humangenome)IGV-img (batgenome)
ATXN2 ATXN2, ASL13, ATX2, SCA2, TNRC13,ATX2 ataxin 2 NM_002973 pdf

Download all snapshots for IGV, UCSC and Sashimi (zip archive)

Description

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease.

Gene is upregulated upon Ebola but not Marburg virus infection in human cells, and in both, Marburg and Ebola virus infection in bat cells.

Show legend

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
humanH. sapiensGenome128 155 189 111 175 622 207 228 162
Read_Max
batR. aegyptiacusTranscriptome 72 58 50 58 69 73 36 67 73
Read_Max
bat_genomeR. aegyptiacusGenome 233 241 138 191 190 303 145 349 450
DESeq
humanH. sapiensGenome 2247.74 2668.99 2565.47 2136.36 2313.84 8020.23 2258.93 2407.04 2438.83
DESeq
batR. aegyptiacusTranscriptome 799.97 705.37 759.57 750.02 687.62 808.12 547.19 713.19 689.4
DESeq
bat_genomeR. aegyptiacusGenome 6139.48 6375.1 6031.89 5721.48 6454.6 10244.86 5570.93 6069.21 7615.83

Human Condition Comparisons

human Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 2247.74 2136.36 2258.93 -0.07 0.01 0.08
7h 2668.99 2313.84 2407.04 -0.21 -0.15 0.06
23h 2565.47 8020.23 2438.83 1.64 -0.07 -1.72

Human Time Point Comparisons

human 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 2247.74 2668.99 2565.47 0.25 0.19 -0.06
Ebov 2136.36 2313.84 8020.23 0.12 1.91 1.79
Marv 2258.93 2407.04 2438.83 0.09 0.11 0.02

Bat Condition Comparisons

bat Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 799.97 750.02 547.19 -0.09 -0.55 -0.45
7h 705.37 687.62 713.19 -0.04 0.02 0.05
23h 759.57 808.12 689.4 0.09 -0.14 -0.23

Bat Time Point Comparisons

bat 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 799.97 705.37 759.57 -0.18 -0.07 0.11
Ebov 750.02 687.62 808.12 -0.13 0.11 0.23
Marv 547.19 713.19 689.4 0.38 0.33 -0.05