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Gene: ATXN7 |
Gene summary for ATXN7 |
 Gene summary. |
| 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 |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| 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 |
| Page: 1 2 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00512611 | Colorectum | SER | protein depolymerization | 31/2897 | 114/18723 | 9.18e-04 | 1.11e-02 | 31 |
| GO:19018791 | Colorectum | SER | regulation of protein depolymerization | 24/2897 | 87/18723 | 2.69e-03 | 2.44e-02 | 24 |
| GO:00432441 | Colorectum | SER | regulation of protein-containing complex disassembly | 30/2897 | 121/18723 | 5.03e-03 | 3.88e-02 | 30 |
| GO:19018801 | Colorectum | SER | negative regulation of protein depolymerization | 20/2897 | 72/18723 | 5.36e-03 | 4.03e-02 | 20 |
| GO:19029032 | Colorectum | MSS | regulation of supramolecular fiber organization | 121/3467 | 383/18723 | 3.63e-10 | 3.28e-08 | 121 |
| GO:00224112 | Colorectum | MSS | cellular component disassembly | 130/3467 | 443/18723 | 1.44e-08 | 8.46e-07 | 130 |
| GO:00106392 | Colorectum | MSS | negative regulation of organelle organization | 102/3467 | 348/18723 | 5.36e-07 | 2.05e-05 | 102 |
| GO:00329842 | Colorectum | MSS | protein-containing complex disassembly | 69/3467 | 224/18723 | 5.61e-06 | 1.50e-04 | 69 |
| GO:19029042 | Colorectum | MSS | negative regulation of supramolecular fiber organization | 49/3467 | 167/18723 | 4.30e-04 | 5.23e-03 | 49 |
| GO:0016570 | Colorectum | MSS | histone modification | 113/3467 | 463/18723 | 8.37e-04 | 8.68e-03 | 113 |
| GO:00514942 | Colorectum | MSS | negative regulation of cytoskeleton organization | 47/3467 | 163/18723 | 8.45e-04 | 8.71e-03 | 47 |
| GO:19029034 | Colorectum | FAP | regulation of supramolecular fiber organization | 92/2622 | 383/18723 | 8.48e-08 | 5.77e-06 | 92 |
| GO:00224114 | Colorectum | FAP | cellular component disassembly | 97/2622 | 443/18723 | 3.44e-06 | 1.23e-04 | 97 |
| GO:00106393 | Colorectum | FAP | negative regulation of organelle organization | 80/2622 | 348/18723 | 3.62e-06 | 1.27e-04 | 80 |
| GO:00329844 | Colorectum | FAP | protein-containing complex disassembly | 54/2622 | 224/18723 | 3.37e-05 | 7.48e-04 | 54 |
| GO:00165701 | Colorectum | FAP | histone modification | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
| GO:19029043 | Colorectum | FAP | negative regulation of supramolecular fiber organization | 38/2622 | 167/18723 | 1.47e-03 | 1.31e-02 | 38 |
| GO:00514943 | Colorectum | FAP | negative regulation of cytoskeleton organization | 37/2622 | 163/18723 | 1.76e-03 | 1.53e-02 | 37 |
| GO:00432442 | Colorectum | FAP | regulation of protein-containing complex disassembly | 28/2622 | 121/18723 | 4.50e-03 | 3.06e-02 | 28 |
| GO:00512612 | Colorectum | FAP | protein depolymerization | 26/2622 | 114/18723 | 7.36e-03 | 4.40e-02 | 26 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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 |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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.599N>T | p.Ala200Val | p.A200V | O15265 | protein_coding | tolerated(0.27) | benign(0.068) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ATXN7 | SNV | Missense_Mutation | novel | c.1609G>C | p.Asp537His | p.D537H | O15265 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
| ATXN7 | SNV | Missense_Mutation | c.1916N>C | p.Cys639Ser | p.C639S | O15265 | protein_coding | tolerated(0.43) | benign(0.011) | TCGA-D8-A1X6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD | |
| ATXN7 | deletion | Frame_Shift_Del | novel | c.402_411delNNNNNNNNNN | p.Ile135SerfsTer85 | p.I135Sfs*85 | O15265 | protein_coding | TCGA-A7-A6VY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR | ||
| ATXN7 | insertion | Frame_Shift_Ins | novel | c.2820_2821insCTTTTCTCTAAGTTAGAAACCCAGGCCTGCA | p.Thr941LeufsTer71 | p.T941Lfs*71 | O15265 | protein_coding | TCGA-BH-A0E7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| ATXN7 | SNV | Missense_Mutation | rs774403353 | c.1754C>T | p.Pro585Leu | p.P585L | O15265 | protein_coding | tolerated(0.12) | possibly_damaging(0.742) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ATXN7 | SNV | Missense_Mutation | novel | c.1649N>C | p.Met550Thr | p.M550T | O15265 | protein_coding | deleterious(0) | possibly_damaging(0.447) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
| ATXN7 | SNV | Missense_Mutation | novel | c.1600N>G | p.Tyr534Asp | p.Y534D | O15265 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| ATXN7 | SNV | Missense_Mutation | c.2546N>A | p.Ser849Asn | p.S849N | O15265 | protein_coding | tolerated(0.19) | benign(0.006) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ATXN7 | SNV | Missense_Mutation | c.905N>T | p.Ser302Leu | p.S302L | O15265 | protein_coding | deleterious(0.01) | benign(0.406) | TCGA-A6-6649-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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