Details for: ATXN7

Gene ID: 6314

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ATXN7

Ensembl ID: ENSG00000163635

Description: ataxin 7

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 16.92
    rCSI 41.13%
    PRS 30.16
  • L6b glutamatergic cortical neuron CL4023038
    CSI 13.93
    rCSI 43.54%
    PRS 32.37
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 12.82
    rCSI 46.12%
    PRS 29.95
  • placental villous trophoblast CL2000060
    CSI 12.01
    rCSI 18.55%
    PRS 44.65
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 10.75
    rCSI 40.61%
    PRS 32.01
  • cardiac endothelial cell CL0010008
    CSI 9.2
    rCSI 37.13%
    PRS 45.57
  • helper T cell CL0000912
    CSI 8.92
    rCSI 12.62%
    PRS 55.19
  • cardiac muscle cell CL0000746
    CSI 8.84
    rCSI 12.69%
    PRS 38.11
  • alveolar type 1 fibroblast cell CL4028004
    CSI 8.41
    rCSI 9.21%
    PRS 50.89
  • retinal pigment epithelial cell CL0002586
    CSI 8.19
    rCSI 16.27%
    PRS 45.86
  • OFF-bipolar cell CL0000750
    CSI 7.57
    rCSI 10.36%
    PRS 56.26
  • VIP GABAergic cortical interneuron CL4023016
    CSI 7.42
    rCSI 8.86%
    PRS 31.02
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 7.3
    rCSI 42.95%
    PRS 32.49
  • activated CD4-positive, alpha-beta T cell CL0000896
    CSI 6.21
    rCSI 5.74%
    PRS 66.99
  • central nervous system neuron CL2000029
    CSI 5.73
    rCSI 42.13%
    PRS 35.02
  • ionocyte CL0005006
    CSI 4.57
    rCSI 4.9%
    PRS 44.99
  • epithelial cell of lower respiratory tract CL0002632
    CSI 4.47
    rCSI 3.47%
    PRS 47.52
  • corneal epithelial cell CL0000575
    CSI 4.32
    rCSI 12.36%
    PRS 63.32
  • innate lymphoid cell CL0001065
    CSI 4.29
    rCSI 8.85%
    PRS 52.39
  • periportal region hepatocyte CL0019026
    CSI 4.21
    rCSI 16.36%
    PRS 55.34
  • ciliated epithelial cell CL0000067
    CSI 4.07
    rCSI 3.58%
    PRS 36.07
  • naive thymus-derived CD8-positive, alpha-beta T cell CL0000900
    CSI 4.03
    rCSI 2.83%
    PRS 68.22
  • retinal rod cell CL0000604
    CSI 3.93
    rCSI 6.92%
    PRS 45.19
  • mature T cell CL0002419
    CSI 3.79
    rCSI 2.95%
    PRS 64.07
  • mucosal invariant T cell CL0000940
    CSI 3.78
    rCSI 3.06%
    PRS 57.39
  • glandular epithelial cell CL0000150
    CSI 3.62
    rCSI 9.52%
    PRS 69.05
  • intermediate monocyte CL0002393
    CSI 3.59
    rCSI 5.41%
    PRS 49.06
  • squamous epithelial cell CL0000076
    CSI 3.52
    rCSI 8.37%
    PRS 52.41
  • naive T cell CL0000898
    CSI 3.49
    rCSI 2.43%
    PRS 59.91
  • CD4-positive, alpha-beta memory T cell CL0000897
    CSI 3.39
    rCSI 2.44%
    PRS 59.97
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.38
    rCSI 2.36%
    PRS 48.8
  • granulocyte CL0000094
    CSI 3.36
    rCSI 5.14%
    PRS 56.15
  • CD4-positive, alpha-beta thymocyte CL0000810
    CSI 3.32
    rCSI 2.66%
    PRS 68.19
  • pancreatic D cell CL0000173
    CSI 3.31
    rCSI 3.25%
    PRS 49.4
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 3.25
    rCSI 8.47%
    PRS 46.15
  • ON-bipolar cell CL0000749
    CSI 3.08
    rCSI 4.58%
    PRS 49.26
  • cerebral cortex endothelial cell CL1001602
    CSI 3.05
    rCSI 5.28%
    PRS 37.73
  • Mueller cell CL0000636
    CSI 2.98
    rCSI 6.8%
    PRS 40.33
  • lung ciliated cell CL1000271
    CSI 2.9
    rCSI 3.35%
    PRS 37.18
  • S cone cell CL0003050
    CSI 2.85
    rCSI 12.54%
    PRS 44.36
  • alpha-beta T cell CL0000789
    CSI 2.83
    rCSI 3.31%
    PRS 62.64
  • direct pathway medium spiny neuron CL4023026
    CSI 2.78
    rCSI 66.59%
    PRS 30.55
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.76
    rCSI 66.61%
    PRS 31.43
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 2.76
    rCSI 5.5%
    PRS 64.98
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.75
    rCSI 3.55%
    PRS 32.02
  • CD8-positive, alpha-beta thymocyte CL0000811
    CSI 2.61
    rCSI 4.06%
    PRS 73.6
  • pro-B cell CL0000826
    CSI 2.6
    rCSI 2.15%
    PRS 47.97
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.58
    rCSI 3.21%
    PRS 29.52
  • retinal bipolar neuron CL0000748
    CSI 2.57
    rCSI 4.82%
    PRS 36.76
  • double negative thymocyte CL0002489
    CSI 2.55
    rCSI 1.77%
    PRS 55.86
  • melanocyte CL0000148
    CSI 2.54
    rCSI 1.88%
    PRS 40.52
  • choroid plexus epithelial cell CL0000706
    CSI 2.52
    rCSI 4.13%
    PRS 37.55
  • BEST4+ enteroycte CL4030026
    CSI 2.51
    rCSI 3.13%
    PRS 49.48
  • neuron CL0000540
    CSI 2.46
    rCSI 6.55%
    PRS 38.84
  • activated CD8-positive, alpha-beta T cell, human CL0001049
    CSI 2.43
    rCSI 4.16%
    PRS 67.35
  • neural crest cell CL0011012
    CSI 2.36
    rCSI 1.86%
    PRS 34.71
  • brush cell of tracheobronchial tree CL0002075
    CSI 2.34
    rCSI 6.95%
    PRS 58.12
  • effector memory CD4-positive, alpha-beta T cell CL0000905
    CSI 2.34
    rCSI 3.19%
    PRS 74.25
  • adipocyte CL0000136
    CSI 2.28
    rCSI 2.92%
    PRS 42.13
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.24
    rCSI 5.68%
    PRS 37.44
  • mononuclear phagocyte CL0000113
    CSI 2.19
    rCSI 4.82%
    PRS 50.84
  • perivascular cell CL4033054
    CSI 2.18
    rCSI 2.98%
    PRS 51.9
  • hepatic stellate cell CL0000632
    CSI 2.17
    rCSI 8.12%
    PRS 39.93
  • goblet cell CL0000160
    CSI 2.13
    rCSI 2.01%
    PRS 47.64
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.08
    rCSI 1.23%
    PRS 62.43
  • rod bipolar cell CL0000751
    CSI 2.06
    rCSI 3.7%
    PRS 40.38
  • epithelial cell of lung CL0000082
    CSI 2.05
    rCSI 1.7%
    PRS 45.46
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 1.99
    rCSI 1.95%
    PRS 62.24
  • ependymal cell CL0000065
    CSI 1.99
    rCSI 4.03%
    PRS 29.41
  • multi-ciliated epithelial cell CL0005012
    CSI 1.98
    rCSI 1.98%
    PRS 41.07
  • CD14-positive monocyte CL0001054
    CSI 1.95
    rCSI 2.43%
    PRS 58.03
  • Kupffer cell CL0000091
    CSI 1.95
    rCSI 4.46%
    PRS 46.4
  • fibroblast of lung CL0002553
    CSI 1.91
    rCSI 1.78%
    PRS 46.61
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 1.91
    rCSI 2.31%
    PRS 54.82
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.91
    rCSI 3.2%
    PRS 31.13
  • activated type II NK T cell CL0000931
    CSI 1.83
    rCSI 2.06%
    PRS 63.4
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.83
    rCSI 4.1%
    PRS 31.91
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 1.83
    rCSI 1.23%
    PRS 57.68
  • interneuron CL0000099
    CSI 1.79
    rCSI 3.6%
    PRS 36.82
  • Schwann cell CL0002573
    CSI 1.79
    rCSI 5.09%
    PRS 46.61
  • mesothelial cell CL0000077
    CSI 1.77
    rCSI 6.94%
    PRS 23.93
  • lung neuroendocrine cell CL1000223
    CSI 1.74
    rCSI 2.57%
    PRS 52.13
  • pancreatic A cell CL0000171
    CSI 1.72
    rCSI 1.8%
    PRS 49.93
  • conjunctival epithelial cell CL1000432
    CSI 1.68
    rCSI 2.56%
    PRS 47.46
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 1.66
    rCSI 1.69%
    PRS 60.15
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.65
    rCSI 2.66%
    PRS 33.21
  • retinal ganglion cell CL0000740
    CSI 1.65
    rCSI 3.65%
    PRS 35.09
  • ciliated cell CL0000064
    CSI 1.65
    rCSI 2.67%
    PRS 45.3
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 1.63
    rCSI 5.09%
    PRS 34.68
  • GABAergic neuron CL0000617
    CSI 1.62
    rCSI 5.43%
    PRS 34.97
  • alveolar adventitial fibroblast CL4028006
    CSI 1.61
    rCSI 2.54%
    PRS 48.07
  • retinal cone cell CL0000573
    CSI 1.6
    rCSI 2.57%
    PRS 37.62
  • myeloid dendritic cell CL0000782
    CSI 1.58
    rCSI 2.29%
    PRS 63.06
  • small intestine goblet cell CL1000495
    CSI 1.52
    rCSI 3.33%
    PRS 56.46
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.52
    rCSI 2.68%
    PRS 30.12
  • parietal epithelial cell CL1000452
    CSI 1.5
    rCSI 4%
    PRS 39.66
  • group 3 innate lymphoid cell CL0001071
    CSI 1.49
    rCSI 1.12%
    PRS 50.55
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.48
    rCSI 2.36%
    PRS 50.88
  • intestine goblet cell CL0019031
    CSI 1.46
    rCSI 1.3%
    PRS 45.8
  • Bergmann glial cell CL0000644
    CSI 1.4
    rCSI 1.92%
    PRS 43.02
  • medium spiny neuron CL1001474
    CSI 0.1
    rCSI 1.1%
    PRS 34.7%
  • OFF midget ganglion cell CL4033047
    CSI 0.3
    rCSI 5.9%
    PRS 40.6%
  • respiratory goblet cell CL0002370
    CSI 0.3
    rCSI 3.2%
    PRS 66.5%
  • stromal cell of ovary CL0002132
    CSI 0.3
    rCSI 0.9%
    PRS 62.2%
  • ON midget ganglion cell CL4033046
    CSI 0.4
    rCSI 7.9%
    PRS 39.4%
  • podocyte CL0000653
    CSI 0.4
    rCSI 1.8%
    PRS 45.7%
  • glial cell CL0000125
    CSI 0.5
    rCSI 2.0%
    PRS 40.0%
  • stromal cell CL0000499
    CSI 0.6
    rCSI 1.6%
    PRS 46.3%
  • invaginating midget bipolar cell CL4033034
    CSI 0.6
    rCSI 3.3%
    PRS 43.7%
  • dopaminergic neuron CL0000700
    CSI 0.6
    rCSI 3.2%
    PRS 33.4%
  • fibroblast of breast CL4006000
    CSI 0.6
    rCSI 2.4%
    PRS 67.4%
  • erythroblast CL0000765
    CSI 0.6
    rCSI 1.6%
    PRS 60.0%
  • pancreatic acinar cell CL0002064
    CSI 0.7
    rCSI 1.0%
    PRS 51.9%
  • retina horizontal cell CL0000745
    CSI 0.7
    rCSI 1.1%
    PRS 43.6%
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.7
    rCSI 4.6%
    PRS 39.5%
  • brush cell CL0002204
    CSI 0.8
    rCSI 1.6%
    PRS 70.9%
  • tissue-resident macrophage CL0000864
    CSI 0.8
    rCSI 3.9%
    PRS 65.0%
  • enteroglial cell CL4040002
    CSI 0.9
    rCSI 4.5%
    PRS 54.8%
  • paneth cell of epithelium of small intestine CL1000343
    CSI 0.9
    rCSI 2.5%
    PRS 61.1%
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 0.9
    rCSI 9.6%
    PRS 47.5%
  • GABAergic amacrine cell CL4030027
    CSI 1.0
    rCSI 3.3%
    PRS 38.1%
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 1.0
    rCSI 2.8%
    PRS 55.5%
  • mesenchymal stem cell of adipose tissue CL0002570
    CSI 1.1
    rCSI 5.9%
    PRS 63.6%
  • glutamatergic neuron CL0000679
    CSI 1.1
    rCSI 2.2%
    PRS 40.8%
  • lung secretory cell CL1000272
    CSI 1.1
    rCSI 2.7%
    PRS 44.9%
  • enteroendocrine cell of small intestine CL0009006
    CSI 1.1
    rCSI 2.4%
    PRS 61.4%
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 1.1
    rCSI 1.4%
    PRS 41.0%
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 1.2
    rCSI 2.8%
    PRS 36.2%
  • basophil CL0000767
    CSI 1.2
    rCSI 2.5%
    PRS 67.3%
  • glycinergic amacrine cell CL4030028
    CSI 1.2
    rCSI 3.1%
    PRS 46.4%
  • T follicular helper cell CL0002038
    CSI 1.2
    rCSI 0.9%
    PRS 61.5%
  • inhibitory interneuron CL0000498
    CSI 1.2
    rCSI 2.8%
    PRS 38.4%
  • alveolar macrophage CL0000583
    CSI 1.2
    rCSI 2.0%
    PRS 52.3%
  • basal cell CL0000646
    CSI 1.2
    rCSI 1.7%
    PRS 48.3%
  • pulmonary alveolar type 2 cell CL0002063
    CSI 1.3
    rCSI 1.9%
    PRS 56.3%
  • intrahepatic cholangiocyte CL0002538
    CSI 1.3
    rCSI 3.0%
    PRS 62.1%
  • effector memory CD8-positive, alpha-beta T cell CL0000913
    CSI 1.3
    rCSI 1.2%
    PRS 61.8%
  • renal interstitial pericyte CL1001318
    CSI 1.3
    rCSI 3.6%
    PRS 43.6%
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.3
    rCSI 1.0%
    PRS 45.9%
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.3
    rCSI 3.4%
    PRS 43.0%
  • amacrine cell CL0000561
    CSI 1.3
    rCSI 3.8%
    PRS 38.3%
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.4
    rCSI 4.5%
    PRS 35.8%
  • Bergmann glial cell CL0000644
    CSI 1.4
    rCSI 1.9%
    PRS 43.0%
  • intestine goblet cell CL0019031
    CSI 1.5
    rCSI 1.3%
    PRS 45.8%
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.5
    rCSI 2.4%
    PRS 50.9%
  • group 3 innate lymphoid cell CL0001071
    CSI 1.5
    rCSI 1.1%
    PRS 50.6%
  • parietal epithelial cell CL1000452
    CSI 1.5
    rCSI 4.0%
    PRS 39.7%
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.5
    rCSI 2.7%
    PRS 30.1%
  • small intestine goblet cell CL1000495
    CSI 1.5
    rCSI 3.3%
    PRS 56.5%
  • myeloid dendritic cell CL0000782
    CSI 1.6
    rCSI 2.3%
    PRS 63.1%
  • retinal cone cell CL0000573
    CSI 1.6
    rCSI 2.6%
    PRS 37.6%
  • alveolar adventitial fibroblast CL4028006
    CSI 1.6
    rCSI 2.5%
    PRS 48.1%
  • GABAergic neuron CL0000617
    CSI 1.6
    rCSI 5.4%
    PRS 35.0%
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 1.6
    rCSI 5.1%
    PRS 34.7%
  • ciliated cell CL0000064
    CSI 1.7
    rCSI 2.7%
    PRS 45.3%
  • retinal ganglion cell CL0000740
    CSI 1.7
    rCSI 3.7%
    PRS 35.1%
  • sncg GABAergic cortical interneuron CL4023015
    CSI 1.7
    rCSI 2.7%
    PRS 33.2%
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 1.7
    rCSI 1.7%
    PRS 60.2%
  • conjunctival epithelial cell CL1000432
    CSI 1.7
    rCSI 2.6%
    PRS 47.5%
  • pancreatic A cell CL0000171
    CSI 1.7
    rCSI 1.8%
    PRS 49.9%
  • lung neuroendocrine cell CL1000223
    CSI 1.7
    rCSI 2.6%
    PRS 52.1%
  • mesothelial cell CL0000077
    CSI 1.8
    rCSI 6.9%
    PRS 23.9%
  • Schwann cell CL0002573
    CSI 1.8
    rCSI 5.1%
    PRS 46.6%
  • interneuron CL0000099
    CSI 1.8
    rCSI 3.6%
    PRS 36.8%
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 1.8
    rCSI 1.2%
    PRS 57.7%
  • astrocyte of the cerebral cortex CL0002605
    CSI 1.8
    rCSI 4.1%
    PRS 31.9%
  • activated type II NK T cell CL0000931
    CSI 1.8
    rCSI 2.1%
    PRS 63.4%
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.9
    rCSI 3.2%
    PRS 31.1%
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 1.9
    rCSI 2.3%
    PRS 54.8%
  • fibroblast of lung CL0002553
    CSI 1.9
    rCSI 1.8%
    PRS 46.6%
  • Kupffer cell CL0000091
    CSI 2.0
    rCSI 4.5%
    PRS 46.4%
  • CD14-positive monocyte CL0001054
    CSI 2.0
    rCSI 2.4%
    PRS 58.0%
  • multi-ciliated epithelial cell CL0005012
    CSI 2.0
    rCSI 2.0%
    PRS 41.1%
  • ependymal cell CL0000065
    CSI 2.0
    rCSI 4.0%
    PRS 29.4%
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 2.0
    rCSI 2.0%
    PRS 62.2%
  • epithelial cell of lung CL0000082
    CSI 2.1
    rCSI 1.7%
    PRS 45.5%
  • rod bipolar cell CL0000751
    CSI 2.1
    rCSI 3.7%
    PRS 40.4%
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.1
    rCSI 1.2%
    PRS 62.4%
  • goblet cell CL0000160
    CSI 2.1
    rCSI 2.0%
    PRS 47.6%
  • hepatic stellate cell CL0000632
    CSI 2.2
    rCSI 8.1%
    PRS 39.9%
  • perivascular cell CL4033054
    CSI 2.2
    rCSI 3.0%
    PRS 51.9%
  • mononuclear phagocyte CL0000113
    CSI 2.2
    rCSI 4.8%
    PRS 50.8%
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.2
    rCSI 5.7%
    PRS 37.4%
  • adipocyte CL0000136
    CSI 2.3
    rCSI 2.9%
    PRS 42.1%
  • effector memory CD4-positive, alpha-beta T cell CL0000905
    CSI 2.3
    rCSI 3.2%
    PRS 74.3%
  • brush cell of tracheobronchial tree CL0002075
    CSI 2.3
    rCSI 7.0%
    PRS 58.1%
  • neural crest cell CL0011012
    CSI 2.4
    rCSI 1.9%
    PRS 34.7%
  • activated CD8-positive, alpha-beta T cell, human CL0001049
    CSI 2.4
    rCSI 4.2%
    PRS 67.4%
  • neuron CL0000540
    CSI 2.5
    rCSI 6.6%
    PRS 38.8%
  • BEST4+ enteroycte CL4030026
    CSI 2.5
    rCSI 3.1%
    PRS 49.5%
  • choroid plexus epithelial cell CL0000706
    CSI 2.5
    rCSI 4.1%
    PRS 37.6%
  • melanocyte CL0000148
    CSI 2.5
    rCSI 1.9%
    PRS 40.5%
  • double negative thymocyte CL0002489
    CSI 2.6
    rCSI 1.8%
    PRS 55.9%
  • retinal bipolar neuron CL0000748
    CSI 2.6
    rCSI 4.8%
    PRS 36.8%
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.6
    rCSI 3.2%
    PRS 29.5%
  • pro-B cell CL0000826
    CSI 2.6
    rCSI 2.2%
    PRS 48.0%
  • CD8-positive, alpha-beta thymocyte CL0000811
    CSI 2.6
    rCSI 4.1%
    PRS 73.6%
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.8
    rCSI 3.6%
    PRS 32.0%
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 2.8
    rCSI 5.5%
    PRS 65.0%
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.8
    rCSI 66.6%
    PRS 31.4%

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [ATXN7](/details-gene/6314) (ataxin 7) is a protein-coding gene located on chromosome 3p14.1. It is a critical component of several chromatin-modifying complexes, most notably the SAGA (Spt-Ada-Gcn5-acetyltransferase) complex, where it functions as a key regulator of histone acetylation and deubiquitination, thereby influencing transcription. Expansion of a CAG trinucleotide repeat in the [ATXN7](/details-gene/6314) gene results in a polyglutamine tract in the protein, causing a toxic gain-of-function that leads to Spinocerebellar Ataxia Type 7 (SCA7), a progressive neurodegenerative disorder characterized by cerebellar ataxia and retinal degeneration ([OMIM: 164500](https://omim.org/entry/164500)) [Link](https://doi.org/10.1038/ng0997-65). While clinically associated with neurodegeneration, expression data indicates its significance is highest in various subtypes of cortical neurons, but it is also broadly significant in non-neuronal tissues, including placental trophoblasts and cardiac cells, suggesting a fundamental role in cellular function. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [ATXN7](/details-gene/6314) underscores its profound importance in the central nervous system. The gene shows the highest significance in multiple excitatory neuronal populations of the cortex, including [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040) (CSI: 16.92), [L6b glutamatergic cortical neuron](/details-cell/CL4023038) (CSI: 13.93), and [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) (CSI: 12.82). This pronounced neuronal signature is consistent with the neurological phenotype of SCA7. Beyond the nervous system, [ATXN7](/details-gene/6314) is also highly significant in diverse cell types, indicating a broader, pleiotropic function. It is a key marker in [placental villous trophoblast](/details-cell/CL2000060) (CSI: 12.01), [cardiac endothelial cell](/details-cell/CL0010008) (CSI: 9.20), and [cardiac muscle cell](/details-cell/CL0000746) (CSI: 8.84). Its notable significance in immune cells such as the [helper T cell](/details-cell/CL0000912) (CSI: 8.92) and [activated CD4-positive, alpha-beta T cell](/details-cell/CL0000896) (CSI: 6.21) suggests a role in immune cell regulation. This widespread expression pattern is consistent with its fundamental role as a transcriptional co-activator involved in core cellular processes. ## Pathways and Molecular Function The molecular functions of [ATXN7](/details-gene/6314) are centered on transcriptional regulation and protein stability, primarily through its role as a stable component of large multiprotein complexes. It is an integral subunit of the SAGA complex ([GO:0000124](https://www.ebi.ac.uk/QuickGO/term/GO:0000124)) and the related TFTC complex ([GO:0033276](https://www.ebi.ac.uk/QuickGO/term/GO:0033276)) [Link](https://doi.org/10.1093/hmg/ddh139). Through these complexes, it participates in histone acetylation via HATs ([R-HSA-3214847](https://reactome.org/content/detail/R-HSA-3214847)) and deubiquitination ([R-HSA-5688426](https://reactome.org/content/detail/R-HSA-5688426)) [Link](https://doi.org/10.1016/j.molcel.2007.12.011), thereby facilitating positive regulation of DNA-templated transcription ([GO:0045893](https://www.ebi.ac.uk/QuickGO/term/GO:0045893)). The polyglutamine expansion in the disease state has been shown to inhibit this histone acetyltransferase activity, leading to transcriptional dysregulation and cellular toxicity, particularly in retinal cells [Link](https://doi.org/10.1073/pnas.0503505102). In addition to its nuclear functions in chromatin organization ([R-HSA-4839726](https://reactome.org/content/detail/R-HSA-4839726)), [ATXN7](/details-gene/6314) also has roles in the cytoplasm. It is annotated as part of the [microtubule cytoskeleton](/details-cell/GO:0015630) and is involved in its organization ([GO:0000226](https://www.ebi.ac.uk/QuickGO/term/GO:0000226)). Research suggests that ataxin-7 can associate with microtubules and contribute to the stabilization of the cytoskeletal network, a function that may be relevant to maintaining neuronal structure [Link](https://doi.org/10.1093/hmg/ddr539). ## Research Directions The dual role of [ATXN7](/details-gene/6314) in both nuclear transcriptional control and cytoplasmic cytoskeletal stability presents compelling avenues for research, particularly in understanding the cell-type-specific vulnerability seen in SCA7. **Proposed Hypotheses:** 1. The high significance of [ATXN7](/details-gene/6314) in specific cortical glutamatergic neuron subtypes suggests it regulates a unique transcriptional program essential for their long-term survival and function. The polyglutamine expansion may selectively disrupt this program, leading to the specific patterns of neurodegeneration observed in SCA7 before more widespread pathology is evident. 2. The cytoskeletal function of [ATXN7](/details-gene/6314) may be particularly critical in neurons with complex morphologies and long-range projections, such as [corticothalamic-projecting glutamatergic cortical neuron](/details-cell/CL4023013). The mutant protein could disrupt microtubule dynamics, impairing axonal transport and leading to a "dying-back" axonopathy that precedes cell death. This could explain why these highly interconnected neurons are so vulnerable. **Experimental Approach:** To test the second hypothesis, one could utilize iPSC-derived cortical neurons from SCA7 patients and healthy controls. Using live-cell imaging with fluorescently-tagged microtubule-associated proteins (e.g., MAPT) and mitochondrial or synaptic vesicle markers, researchers could directly measure microtubule stability and the velocity and processivity of axonal transport. A reduction in these parameters in SCA7 neurons compared to isogenic controls would provide direct evidence for a cytoskeletal deficit. Further, proximity-ligation assays could be used to determine if the polyglutamine expansion alters the interaction of [ATXN7](/details-gene/6314) with key microtubule-associated proteins. **Therapeutic Potential:** SCA7 is a monogenic disorder caused by a toxic gain-of-function mutation, making [ATXN7](/details-gene/6314) an ideal candidate for targeted gene silencing. The therapeutic strategy would be **inhibition** or reduction of the mutant protein. Allele-specific silencing using antisense oligonucleotides (ASOs) or RNA interference (RNAi) represents the most promising approach, as this would lower the levels of the toxic polyglutamine-expanded protein while preserving the function of the wild-type allele. Given the widespread expression of [ATXN7](/details-gene/6314), an allele-specific approach is critical to minimize off-target effects in non-neuronal tissues like the heart and immune system.

Genular Protein ID: 4071940603

Symbol: ATX7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9288099

Title: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

PubMed ID: 9288099

DOI: 10.1038/ng0997-65

PubMed ID: 9425224

Title: Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

PubMed ID: 9425224

DOI: 10.1093/hmg/7.2.177

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 12533095

Title: A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

PubMed ID: 12533095

DOI: 10.1001/archneur.60.1.97

PubMed ID: 10441328

Title: Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.

PubMed ID: 10441328

DOI: 10.1093/hmg/8.9.1657

PubMed ID: 11371513

Title: Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.

PubMed ID: 11371513

DOI: 10.1093/hmg/10.11.1201

PubMed ID: 11734547

Title: Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.

PubMed ID: 11734547

DOI: 10.1093/hmg/10.24.2821

PubMed ID: 15115762

Title: Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.

PubMed ID: 15115762

DOI: 10.1093/hmg/ddh139

PubMed ID: 15932940

Title: Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.

PubMed ID: 15932940

DOI: 10.1073/pnas.0503505102

PubMed ID: 16314424

Title: Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal.

PubMed ID: 16314424

DOI: 10.1074/jbc.m506751200

PubMed ID: 17646170

Title: Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation.

PubMed ID: 17646170

DOI: 10.1074/jbc.m705265200

PubMed ID: 18206972

Title: A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.

PubMed ID: 18206972

DOI: 10.1016/j.molcel.2007.12.011

PubMed ID: 19843541

Title: SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.

PubMed ID: 19843541

DOI: 10.1093/hmg/ddp478

PubMed ID: 22100762

Title: Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.

PubMed ID: 22100762

DOI: 10.1093/hmg/ddr539

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 892
  • Mass: 95451
  • Checksum: 9AEA787D77103C5F
  • Sequence:
  • MSERAADDVR GEPRRAAAAA GGAAAAAARQ QQQQQQQQQP PPPQPQRQQH PPPPPRRTRP 
    EDGGPGAAST SAAAMATVGE RRPLPSPEVM LGQSWNLWVE ASKLPGKDGT ELDESFKEFG 
    KNREVMGLCR EDMPIFGFCP AHDDFYLVVC NDCNQVVKPQ AFQSHYERRH SSSSKPPLAV 
    PPTSVFSFFP SLSKSKGGSA SGSNRSSSGG VLSASSSSSK LLKSPKEKLQ LRGNTRPMHP 
    IQQSRVPHGR IMTPSVKVEK IHPKMDGTLL KSAVGPTCPA TVSSLVKPGL NCPSIPKPTL 
    PSPGQILNGK GLPAPPTLEK KPEDNSNNRK FLNKRLSERE FDPDIHCGVI DLDTKKPCTR 
    SLTCKTHSLT QRRAVQGRRK RFDVLLAEHK NKTREKELIR HPDSQQPPQP LRDPHPAPPR 
    TSQEPHQNPH GVIPSESKPF VASKPKPHTP SLPRPPGCPA QQGGSAPIDP PPVHESPHPP 
    LPATEPASRL SSEEGEGDDK EESVEKLDCH YSGHHPQPAS FCTFGSRQIG RGYYVFDSRW 
    NRLRCALNLM VEKHLNAQLW KKIPPVPSTT SPISTRIPHR TNSVPTSQCG VSYLAAATVS 
    TSPVLLSSTC ISPNSKSVPA HGTTLNAQPA ASGAMDPVCS MQSRQVSSSS SSPSTPSGLS 
    SVPSSPMSRK PQKLKSSKSL RPKESSGNST NCQNASSSTS GGSGKKRKNS SPLLVHSSSS 
    SSSSSSSSHS MESFRKNCVA HSGPPYPSTV TSSHSIGLNC VTNKANAVNV RHDQSGRGPP 
    TGSPAESIKR MSVMVNSSDS TLSLGPFIHQ SNELPVNSHG SFSHSHTPLD KLIGKKRKCS 
    PSSSSINNSS SKPTKVAKVP AVNNVHMKHT GTIPGAQGLM NSSLLHQPKA RP

Genular Protein ID: 830248135

Symbol: Q9UPD8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9425224

Title: Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

PubMed ID: 9425224

DOI: 10.1093/hmg/7.2.177

Sequence Information:

  • Length: 26
  • Mass: 2499
  • Checksum: EC031EE203172746
  • Sequence:
  • MSERAADDVR GEPRRAAAAA GGAAAA