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Gene: ATXN7 |
Gene summary for ATXN7 |
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Gene information | Species | Human | Gene symbol | ATXN7 | Gene ID | 6314 |
Gene name | ataxin 7 | |
Gene Alias | ADCAII | |
Cytomap | 3p14.1 | |
Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | O15265 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6314 | ATXN7 | HTA11_2487_2000001011 | Human | Colorectum | SER | 6.69e-03 | 3.78e-01 | -0.1808 |
6314 | ATXN7 | HTA11_1938_2000001011 | Human | Colorectum | AD | 3.49e-02 | 3.08e-01 | -0.0811 |
6314 | ATXN7 | HTA11_78_2000001011 | Human | Colorectum | AD | 3.18e-03 | 3.81e-01 | -0.1088 |
6314 | ATXN7 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.33e-31 | 8.21e-01 | -0.1954 |
6314 | ATXN7 | HTA11_696_2000001011 | Human | Colorectum | AD | 6.25e-07 | 3.61e-01 | -0.1464 |
6314 | ATXN7 | HTA11_866_2000001011 | Human | Colorectum | AD | 6.81e-08 | 4.64e-01 | -0.1001 |
6314 | ATXN7 | HTA11_1391_2000001011 | Human | Colorectum | AD | 7.15e-06 | 4.83e-01 | -0.059 |
6314 | ATXN7 | HTA11_7862_2000001011 | Human | Colorectum | AD | 2.80e-02 | 3.05e-01 | -0.0179 |
6314 | ATXN7 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.22e-04 | 3.63e-01 | 0.294 |
6314 | ATXN7 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.20e-03 | 4.02e-01 | 0.281 |
6314 | ATXN7 | A015-C-203 | Human | Colorectum | FAP | 9.54e-06 | -1.87e-01 | -0.1294 |
6314 | ATXN7 | A002-C-201 | Human | Colorectum | FAP | 2.05e-02 | -1.65e-01 | 0.0324 |
6314 | ATXN7 | A002-C-205 | Human | Colorectum | FAP | 5.14e-03 | -1.73e-01 | -0.1236 |
6314 | ATXN7 | A015-C-006 | Human | Colorectum | FAP | 1.38e-04 | -2.37e-01 | -0.0994 |
6314 | ATXN7 | A002-C-114 | Human | Colorectum | FAP | 1.99e-02 | -1.67e-01 | -0.1561 |
6314 | ATXN7 | A015-C-104 | Human | Colorectum | FAP | 3.44e-05 | -1.62e-01 | -0.1899 |
6314 | ATXN7 | A001-C-014 | Human | Colorectum | FAP | 1.10e-04 | -1.58e-01 | 0.0135 |
6314 | ATXN7 | A002-C-016 | Human | Colorectum | FAP | 1.54e-05 | -1.67e-01 | 0.0521 |
6314 | ATXN7 | A002-C-116 | Human | Colorectum | FAP | 2.86e-09 | -1.98e-01 | -0.0452 |
6314 | ATXN7 | A018-E-020 | Human | Colorectum | FAP | 4.69e-03 | -1.71e-01 | -0.2034 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1902903 | Colorectum | AD | regulation of supramolecular fiber organization | 139/3918 | 383/18723 | 2.01e-12 | 3.19e-10 | 139 |
GO:0022411 | Colorectum | AD | cellular component disassembly | 147/3918 | 443/18723 | 8.53e-10 | 6.76e-08 | 147 |
GO:0032984 | Colorectum | AD | protein-containing complex disassembly | 81/3918 | 224/18723 | 9.41e-08 | 4.65e-06 | 81 |
GO:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
GO:1902904 | Colorectum | AD | negative regulation of supramolecular fiber organization | 60/3918 | 167/18723 | 5.23e-06 | 1.35e-04 | 60 |
GO:0051494 | Colorectum | AD | negative regulation of cytoskeleton organization | 58/3918 | 163/18723 | 1.04e-05 | 2.40e-04 | 58 |
GO:0043244 | Colorectum | AD | regulation of protein-containing complex disassembly | 41/3918 | 121/18723 | 6.22e-04 | 6.48e-03 | 41 |
GO:0043624 | Colorectum | AD | cellular protein complex disassembly | 45/3918 | 136/18723 | 6.24e-04 | 6.48e-03 | 45 |
GO:0051261 | Colorectum | AD | protein depolymerization | 39/3918 | 114/18723 | 6.74e-04 | 6.91e-03 | 39 |
GO:0043242 | Colorectum | AD | negative regulation of protein-containing complex disassembly | 29/3918 | 82/18723 | 1.76e-03 | 1.45e-02 | 29 |
GO:1901880 | Colorectum | AD | negative regulation of protein depolymerization | 26/3918 | 72/18723 | 2.12e-03 | 1.68e-02 | 26 |
GO:1901879 | Colorectum | AD | regulation of protein depolymerization | 30/3918 | 87/18723 | 2.32e-03 | 1.80e-02 | 30 |
GO:0070507 | Colorectum | AD | regulation of microtubule cytoskeleton organization | 44/3918 | 148/18723 | 7.05e-03 | 4.31e-02 | 44 |
GO:19029031 | Colorectum | SER | regulation of supramolecular fiber organization | 114/2897 | 383/18723 | 7.32e-13 | 1.95e-10 | 114 |
GO:00224111 | Colorectum | SER | cellular component disassembly | 114/2897 | 443/18723 | 1.17e-08 | 9.59e-07 | 114 |
GO:00106391 | Colorectum | SER | negative regulation of organelle organization | 90/2897 | 348/18723 | 3.14e-07 | 1.69e-05 | 90 |
GO:19029041 | Colorectum | SER | negative regulation of supramolecular fiber organization | 50/2897 | 167/18723 | 1.63e-06 | 7.23e-05 | 50 |
GO:00329841 | Colorectum | SER | protein-containing complex disassembly | 61/2897 | 224/18723 | 4.17e-06 | 1.60e-04 | 61 |
GO:00514941 | Colorectum | SER | negative regulation of cytoskeleton organization | 48/2897 | 163/18723 | 4.34e-06 | 1.63e-04 | 48 |
GO:00436241 | Colorectum | SER | cellular protein complex disassembly | 37/2897 | 136/18723 | 3.08e-04 | 5.00e-03 | 37 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
ATXN7 | SNV | Missense_Mutation | c.590N>C | p.Gly197Ala | p.G197A | O15265 | protein_coding | tolerated(0.1) | benign(0.009) | TCGA-60-2698-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | mithramycin | PD | |
ATXN7 | insertion | Frame_Shift_Ins | novel | c.2363dupT | p.Lys789GlnfsTer11 | p.K789Qfs*11 | O15265 | protein_coding | TCGA-21-1079-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | ||
ATXN7 | SNV | Missense_Mutation | novel | c.1147G>C | p.Asp383His | p.D383H | O15265 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BA-5152-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | novel | c.331N>A | p.Glu111Lys | p.E111K | O15265 | protein_coding | deleterious(0.01) | possibly_damaging(0.783) | TCGA-CV-7248-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | novel | c.1547N>T | p.Pro516Leu | p.P516L | O15265 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D6-6516-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | novel | c.2661N>C | p.Gln887His | p.Q887H | O15265 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-MT-A67F-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | c.1765N>C | p.Cys589Arg | p.C589R | O15265 | protein_coding | tolerated(0.27) | benign(0.071) | TCGA-BR-4280-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ATXN7 | SNV | Missense_Mutation | c.1276N>T | p.His426Tyr | p.H426Y | O15265 | protein_coding | tolerated(0.15) | benign(0.013) | TCGA-BR-4368-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ATXN7 | SNV | Missense_Mutation | c.1561N>C | p.Phe521Leu | p.F521L | O15265 | protein_coding | tolerated(0.06) | benign(0.389) | TCGA-CG-5721-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
ATXN7 | SNV | Missense_Mutation | c.896N>A | p.Thr299Asn | p.T299N | O15265 | protein_coding | tolerated(0.32) | benign(0.003) | TCGA-D7-A4YT-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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