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Gene: ATXN10 |
Gene summary for ATXN10 |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
25814 | ATXN10 | P31T-E | Human | Esophagus | ESCC | 1.30e-49 | 1.02e+00 | 0.1251 |
25814 | ATXN10 | P32T-E | Human | Esophagus | ESCC | 3.67e-65 | 1.62e+00 | 0.1666 |
25814 | ATXN10 | P36T-E | Human | Esophagus | ESCC | 1.33e-27 | 9.87e-01 | 0.1187 |
25814 | ATXN10 | P37T-E | Human | Esophagus | ESCC | 3.44e-40 | 9.76e-01 | 0.1371 |
25814 | ATXN10 | P38T-E | Human | Esophagus | ESCC | 2.26e-08 | 5.16e-01 | 0.127 |
25814 | ATXN10 | P39T-E | Human | Esophagus | ESCC | 4.45e-19 | 4.72e-01 | 0.0894 |
25814 | ATXN10 | P40T-E | Human | Esophagus | ESCC | 4.18e-34 | 1.24e+00 | 0.109 |
25814 | ATXN10 | P42T-E | Human | Esophagus | ESCC | 6.21e-37 | 1.16e+00 | 0.1175 |
25814 | ATXN10 | P44T-E | Human | Esophagus | ESCC | 5.11e-17 | 5.71e-01 | 0.1096 |
25814 | ATXN10 | P47T-E | Human | Esophagus | ESCC | 4.39e-29 | 6.83e-01 | 0.1067 |
25814 | ATXN10 | P48T-E | Human | Esophagus | ESCC | 3.12e-32 | 7.29e-01 | 0.0959 |
25814 | ATXN10 | P49T-E | Human | Esophagus | ESCC | 1.25e-16 | 1.90e+00 | 0.1768 |
25814 | ATXN10 | P52T-E | Human | Esophagus | ESCC | 4.68e-39 | 1.31e+00 | 0.1555 |
25814 | ATXN10 | P54T-E | Human | Esophagus | ESCC | 1.80e-28 | 4.11e-01 | 0.0975 |
25814 | ATXN10 | P56T-E | Human | Esophagus | ESCC | 2.84e-14 | 2.20e+00 | 0.1613 |
25814 | ATXN10 | P57T-E | Human | Esophagus | ESCC | 4.43e-35 | 9.02e-01 | 0.0926 |
25814 | ATXN10 | P61T-E | Human | Esophagus | ESCC | 7.71e-14 | 4.36e-01 | 0.099 |
25814 | ATXN10 | P62T-E | Human | Esophagus | ESCC | 9.83e-91 | 1.49e+00 | 0.1302 |
25814 | ATXN10 | P65T-E | Human | Esophagus | ESCC | 8.04e-59 | 1.15e+00 | 0.0978 |
25814 | ATXN10 | P74T-E | Human | Esophagus | ESCC | 1.39e-66 | 2.23e+00 | 0.1479 |
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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: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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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 |
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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 |
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 |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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