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Gene: ATXN1 |
Gene summary for ATXN1 |
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Gene information | Species | Human | Gene symbol | ATXN1 | Gene ID | 6310 |
Gene name | ataxin 1 | |
Gene Alias | ATX1 | |
Cytomap | 6p22.3 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | P54253 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6310 | ATXN1 | CCI_1 | Human | Cervix | CC | 5.65e-11 | 1.52e+00 | 0.528 |
6310 | ATXN1 | CCI_3 | Human | Cervix | CC | 7.33e-06 | 8.03e-01 | 0.516 |
6310 | ATXN1 | Tumor | Human | Cervix | CC | 2.01e-02 | -2.47e-01 | 0.1241 |
6310 | ATXN1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.01e-05 | 6.42e-01 | -0.0811 |
6310 | ATXN1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.74e-10 | 6.19e-01 | -0.1954 |
6310 | ATXN1 | HTA11_411_2000001011 | Human | Colorectum | SER | 3.42e-03 | 7.63e-01 | -0.2602 |
6310 | ATXN1 | HTA11_7663_2000001011 | Human | Colorectum | SER | 3.07e-05 | 6.47e-01 | 0.0131 |
6310 | ATXN1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 1.86e-05 | 6.25e-01 | 0.0588 |
6310 | ATXN1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 5.03e-19 | 1.11e+00 | 0.294 |
6310 | ATXN1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 6.28e-09 | 1.18e+00 | 0.3487 |
6310 | ATXN1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.83e-11 | 8.97e-01 | 0.281 |
6310 | ATXN1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.76e-09 | 9.76e-01 | 0.3859 |
6310 | ATXN1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.28e-02 | -2.77e-01 | 0.3005 |
6310 | ATXN1 | A002-C-010 | Human | Colorectum | FAP | 2.24e-05 | 3.42e-01 | 0.242 |
6310 | ATXN1 | A001-C-207 | Human | Colorectum | FAP | 3.12e-04 | 3.11e-01 | 0.1278 |
6310 | ATXN1 | A015-C-203 | Human | Colorectum | FAP | 7.04e-28 | -1.72e-01 | -0.1294 |
6310 | ATXN1 | A015-C-204 | Human | Colorectum | FAP | 3.36e-02 | -1.78e-01 | -0.0228 |
6310 | ATXN1 | A002-C-201 | Human | Colorectum | FAP | 1.95e-08 | -2.28e-01 | 0.0324 |
6310 | ATXN1 | A002-C-203 | Human | Colorectum | FAP | 1.23e-03 | 2.10e-01 | 0.2786 |
6310 | ATXN1 | A001-C-108 | Human | Colorectum | FAP | 8.00e-15 | -1.10e-01 | -0.0272 |
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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:00069139 | Cervix | CC | nucleocytoplasmic transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511699 | Cervix | CC | nuclear transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511689 | Cervix | CC | nuclear export | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:0006913 | Colorectum | AD | nucleocytoplasmic transport | 102/3918 | 301/18723 | 1.00e-07 | 4.85e-06 | 102 |
GO:0051169 | Colorectum | AD | nuclear transport | 102/3918 | 301/18723 | 1.00e-07 | 4.85e-06 | 102 |
GO:0051168 | Colorectum | AD | nuclear export | 53/3918 | 154/18723 | 6.89e-05 | 1.11e-03 | 53 |
GO:00069131 | Colorectum | SER | nucleocytoplasmic transport | 77/2897 | 301/18723 | 3.39e-06 | 1.32e-04 | 77 |
GO:00511691 | Colorectum | SER | nuclear transport | 77/2897 | 301/18723 | 3.39e-06 | 1.32e-04 | 77 |
GO:00511681 | Colorectum | SER | nuclear export | 42/2897 | 154/18723 | 1.19e-04 | 2.46e-03 | 42 |
GO:00069132 | Colorectum | MSS | nucleocytoplasmic transport | 99/3467 | 301/18723 | 1.35e-09 | 1.03e-07 | 99 |
GO:00511692 | Colorectum | MSS | nuclear transport | 99/3467 | 301/18723 | 1.35e-09 | 1.03e-07 | 99 |
GO:00511682 | Colorectum | MSS | nuclear export | 51/3467 | 154/18723 | 1.01e-05 | 2.43e-04 | 51 |
GO:00069133 | Colorectum | MSI-H | nucleocytoplasmic transport | 45/1319 | 301/18723 | 1.31e-06 | 8.75e-05 | 45 |
GO:00511693 | Colorectum | MSI-H | nuclear transport | 45/1319 | 301/18723 | 1.31e-06 | 8.75e-05 | 45 |
GO:00511683 | Colorectum | MSI-H | nuclear export | 24/1319 | 154/18723 | 1.95e-04 | 5.30e-03 | 24 |
GO:00069134 | Colorectum | FAP | nucleocytoplasmic transport | 77/2622 | 301/18723 | 6.15e-08 | 4.54e-06 | 77 |
GO:00511694 | Colorectum | FAP | nuclear transport | 77/2622 | 301/18723 | 6.15e-08 | 4.54e-06 | 77 |
GO:00511684 | Colorectum | FAP | nuclear export | 37/2622 | 154/18723 | 5.81e-04 | 6.46e-03 | 37 |
GO:00069135 | Colorectum | CRC | nucleocytoplasmic transport | 57/2078 | 301/18723 | 3.71e-05 | 9.18e-04 | 57 |
GO:00511695 | Colorectum | CRC | nuclear transport | 57/2078 | 301/18723 | 3.71e-05 | 9.18e-04 | 57 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa043306 | Esophagus | ESCC | Notch signaling pathway | 42/4205 | 62/8465 | 2.97e-03 | 7.97e-03 | 4.08e-03 | 42 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0433013 | Esophagus | ESCC | Notch signaling pathway | 42/4205 | 62/8465 | 2.97e-03 | 7.97e-03 | 4.08e-03 | 42 |
hsa0502214 | Liver | Cirrhotic | Pathways of neurodegeneration - multiple diseases | 217/2530 | 476/8465 | 7.30e-14 | 2.03e-12 | 1.25e-12 | 217 |
hsa0501710 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
hsa0502215 | Liver | Cirrhotic | Pathways of neurodegeneration - multiple diseases | 217/2530 | 476/8465 | 7.30e-14 | 2.03e-12 | 1.25e-12 | 217 |
hsa0501711 | Liver | Cirrhotic | Spinocerebellar ataxia | 66/2530 | 143/8465 | 2.58e-05 | 2.15e-04 | 1.32e-04 | 66 |
hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0501721 | Liver | HCC | Spinocerebellar ataxia | 92/4020 | 143/8465 | 3.20e-05 | 1.88e-04 | 1.04e-04 | 92 |
hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0501731 | Liver | HCC | Spinocerebellar ataxia | 92/4020 | 143/8465 | 3.20e-05 | 1.88e-04 | 1.04e-04 | 92 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa043305 | Oral cavity | OSCC | Notch signaling pathway | 44/3704 | 62/8465 | 1.26e-05 | 5.55e-05 | 2.83e-05 | 44 |
hsa0501725 | Oral cavity | OSCC | Spinocerebellar ataxia | 86/3704 | 143/8465 | 5.21e-05 | 2.08e-04 | 1.06e-04 | 86 |
hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa0433012 | Oral cavity | OSCC | Notch signaling pathway | 44/3704 | 62/8465 | 1.26e-05 | 5.55e-05 | 2.83e-05 | 44 |
hsa05017111 | Oral cavity | OSCC | Spinocerebellar ataxia | 86/3704 | 143/8465 | 5.21e-05 | 2.08e-04 | 1.06e-04 | 86 |
hsa0502245 | Oral cavity | EOLP | Pathways of neurodegeneration - multiple diseases | 110/1218 | 476/8465 | 1.09e-07 | 1.26e-06 | 7.40e-07 | 110 |
hsa0501742 | Oral cavity | EOLP | Spinocerebellar ataxia | 30/1218 | 143/8465 | 1.96e-02 | 4.94e-02 | 2.91e-02 | 30 |
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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 |
ATXN1 | SNV | Missense_Mutation | novel | c.1103C>T | p.Ser368Leu | p.S368L | P54253 | protein_coding | deleterious(0.01) | benign(0.01) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
ATXN1 | SNV | Missense_Mutation | c.1633N>A | p.Pro545Thr | p.P545T | P54253 | protein_coding | tolerated(0.13) | benign(0.115) | TCGA-A2-A25E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD | |
ATXN1 | SNV | Missense_Mutation | c.77N>G | p.Ser26Cys | p.S26C | P54253 | protein_coding | deleterious(0.02) | probably_damaging(0.956) | TCGA-A8-A07O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | CR | ||
ATXN1 | SNV | Missense_Mutation | c.115N>T | p.Arg39Trp | p.R39W | P54253 | protein_coding | deleterious(0.01) | possibly_damaging(0.745) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
ATXN1 | SNV | Missense_Mutation | rs201023487 | c.995G>A | p.Arg332Gln | p.R332Q | P54253 | protein_coding | tolerated(0.19) | probably_damaging(0.978) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ATXN1 | SNV | Missense_Mutation | rs140709024 | c.976N>A | p.Gly326Ser | p.G326S | P54253 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATXN1 | SNV | Missense_Mutation | rs201516255 | c.1897N>A | p.Val633Ile | p.V633I | P54253 | protein_coding | deleterious(0.01) | benign(0.139) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ATXN1 | SNV | Missense_Mutation | c.320N>T | p.Ala107Val | p.A107V | P54253 | protein_coding | tolerated(0.09) | benign(0.023) | TCGA-BH-A0B3-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
ATXN1 | SNV | Missense_Mutation | c.837N>G | p.His279Gln | p.H279Q | P54253 | protein_coding | tolerated(0.24) | possibly_damaging(0.462) | TCGA-BH-A202-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | |
ATXN1 | SNV | Missense_Mutation | c.1550N>T | p.Ala517Val | p.A517V | P54253 | protein_coding | tolerated(0.09) | benign(0.09) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=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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