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Gene: ATXN10 |
Gene summary for ATXN10 |
Gene summary. |
Gene information | Species | Human | Gene symbol | ATXN10 | Gene ID | 25814 |
Gene name | ataxin 10 | |
Gene Alias | E46L | |
Cytomap | 22q13.31 | |
Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | Q9UBB4 |
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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 |
25814 | ATXN10 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.10e-06 | -3.72e-01 | 0.0155 |
25814 | ATXN10 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.09e-05 | -3.75e-01 | -0.1464 |
25814 | ATXN10 | HTA11_866_2000001011 | Human | Colorectum | AD | 8.56e-03 | -3.61e-01 | -0.1001 |
25814 | ATXN10 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.09e-10 | -4.87e-01 | 0.3859 |
25814 | ATXN10 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 6.57e-07 | -4.22e-01 | 0.3005 |
25814 | ATXN10 | A015-C-203 | Human | Colorectum | FAP | 2.34e-26 | -5.49e-01 | -0.1294 |
25814 | ATXN10 | A015-C-204 | Human | Colorectum | FAP | 3.14e-05 | -3.80e-01 | -0.0228 |
25814 | ATXN10 | A014-C-040 | Human | Colorectum | FAP | 1.16e-02 | -5.29e-01 | -0.1184 |
25814 | ATXN10 | A002-C-201 | Human | Colorectum | FAP | 1.99e-09 | -4.19e-01 | 0.0324 |
25814 | ATXN10 | A002-C-203 | Human | Colorectum | FAP | 1.51e-02 | -2.17e-01 | 0.2786 |
25814 | ATXN10 | A001-C-119 | Human | Colorectum | FAP | 8.82e-06 | -4.84e-01 | -0.1557 |
25814 | ATXN10 | A001-C-108 | Human | Colorectum | FAP | 5.56e-14 | -3.79e-01 | -0.0272 |
25814 | ATXN10 | A002-C-205 | Human | Colorectum | FAP | 1.95e-18 | -5.61e-01 | -0.1236 |
25814 | ATXN10 | A001-C-104 | Human | Colorectum | FAP | 8.28e-03 | -3.04e-01 | 0.0184 |
25814 | ATXN10 | A015-C-005 | Human | Colorectum | FAP | 2.32e-02 | -3.09e-01 | -0.0336 |
25814 | ATXN10 | A015-C-006 | Human | Colorectum | FAP | 1.16e-12 | -5.50e-01 | -0.0994 |
25814 | ATXN10 | A015-C-106 | Human | Colorectum | FAP | 8.16e-10 | -3.08e-01 | -0.0511 |
25814 | ATXN10 | A002-C-114 | Human | Colorectum | FAP | 1.50e-16 | -5.78e-01 | -0.1561 |
25814 | ATXN10 | A015-C-104 | Human | Colorectum | FAP | 5.42e-30 | -6.12e-01 | -0.1899 |
25814 | ATXN10 | A001-C-014 | Human | Colorectum | FAP | 3.30e-17 | -4.09e-01 | 0.0135 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0060271 | Lung | IAC | cilium assembly | 55/2061 | 337/18723 | 1.84e-03 | 1.88e-02 | 55 |
GO:0044782 | Lung | IAC | cilium organization | 58/2061 | 368/18723 | 3.15e-03 | 2.75e-02 | 58 |
GO:00602711 | Lung | MIAC | cilium assembly | 37/967 | 337/18723 | 1.29e-05 | 9.85e-04 | 37 |
GO:00447821 | Lung | MIAC | cilium organization | 38/967 | 368/18723 | 3.93e-05 | 2.08e-03 | 38 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05017 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
hsa050171 | Colorectum | AD | Spinocerebellar ataxia | 60/2092 | 143/8465 | 3.78e-06 | 4.35e-05 | 2.78e-05 | 60 |
hsa050174 | Colorectum | MSS | Spinocerebellar ataxia | 60/1875 | 143/8465 | 7.14e-08 | 1.26e-06 | 7.71e-07 | 60 |
hsa050175 | Colorectum | MSS | Spinocerebellar ataxia | 60/1875 | 143/8465 | 7.14e-08 | 1.26e-06 | 7.71e-07 | 60 |
hsa050178 | Colorectum | FAP | Spinocerebellar ataxia | 37/1404 | 143/8465 | 2.94e-03 | 1.29e-02 | 7.86e-03 | 37 |
hsa050179 | Colorectum | FAP | Spinocerebellar ataxia | 37/1404 | 143/8465 | 2.94e-03 | 1.29e-02 | 7.86e-03 | 37 |
hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0501710 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
hsa0501711 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
hsa0501721 | Liver | HCC | Spinocerebellar ataxia | 92/4020 | 143/8465 | 3.20e-05 | 1.88e-04 | 1.04e-04 | 92 |
hsa0501731 | Liver | HCC | Spinocerebellar ataxia | 92/4020 | 143/8465 | 3.20e-05 | 1.88e-04 | 1.04e-04 | 92 |
hsa0501712 | Lung | MIAC | Spinocerebellar ataxia | 18/507 | 143/8465 | 2.14e-03 | 2.03e-02 | 1.47e-02 | 18 |
hsa0501713 | Lung | MIAC | Spinocerebellar ataxia | 18/507 | 143/8465 | 2.14e-03 | 2.03e-02 | 1.47e-02 | 18 |
hsa0501725 | Oral cavity | OSCC | Spinocerebellar ataxia | 86/3704 | 143/8465 | 5.21e-05 | 2.08e-04 | 1.06e-04 | 86 |
hsa05017111 | Oral cavity | OSCC | Spinocerebellar ataxia | 86/3704 | 143/8465 | 5.21e-05 | 2.08e-04 | 1.06e-04 | 86 |
hsa0501726 | Oral cavity | LP | Spinocerebellar ataxia | 59/2418 | 143/8465 | 6.97e-04 | 3.46e-03 | 2.23e-03 | 59 |
hsa0501735 | Oral cavity | LP | Spinocerebellar ataxia | 59/2418 | 143/8465 | 6.97e-04 | 3.46e-03 | 2.23e-03 | 59 |
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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 |
ATXN10 | SNV | Missense_Mutation | rs374630499 | c.506N>T | p.Pro169Leu | p.P169L | Q9UBB4 | protein_coding | tolerated(0.08) | benign(0.122) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
ATXN10 | SNV | Missense_Mutation | c.1021N>T | p.His341Tyr | p.H341Y | Q9UBB4 | protein_coding | deleterious(0) | possibly_damaging(0.472) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
ATXN10 | insertion | Frame_Shift_Ins | novel | c.860_861insATTTTTA | p.Lys288PhefsTer7 | p.K288Ffs*7 | Q9UBB4 | protein_coding | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
ATXN10 | SNV | Missense_Mutation | rs150548393 | c.433C>T | p.Arg145Trp | p.R145W | Q9UBB4 | protein_coding | deleterious(0) | possibly_damaging(0.859) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ATXN10 | SNV | Missense_Mutation | c.922N>A | p.Asp308Asn | p.D308N | Q9UBB4 | protein_coding | deleterious(0.03) | benign(0.231) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR | |
ATXN10 | SNV | Missense_Mutation | rs552570494 | c.1279N>A | p.Glu427Lys | p.E427K | Q9UBB4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
ATXN10 | SNV | Missense_Mutation | novel | c.685G>A | p.Glu229Lys | p.E229K | Q9UBB4 | protein_coding | deleterious(0.04) | benign(0.122) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
ATXN10 | SNV | Missense_Mutation | rs780302545 | c.934G>A | p.Glu312Lys | p.E312K | Q9UBB4 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
ATXN10 | SNV | Missense_Mutation | novel | c.573N>C | p.Lys191Asn | p.K191N | Q9UBB4 | protein_coding | tolerated(0.07) | benign(0.014) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ATXN10 | SNV | Missense_Mutation | novel | c.940N>G | p.Thr314Ala | p.T314A | Q9UBB4 | protein_coding | deleterious(0.01) | benign(0.079) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | 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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