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Gene: APTX |
Gene summary for APTX |
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Gene information | Species | Human | Gene symbol | APTX | Gene ID | 54840 |
Gene name | aprataxin | |
Gene Alias | AOA | |
Cytomap | 9p21.1 | |
Gene Type | protein-coding | GO ID | GO:0000012 | UniProtAcc | Q7Z2E3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
54840 | APTX | P47T-E | Human | Esophagus | ESCC | 5.12e-14 | 2.55e-01 | 0.1067 |
54840 | APTX | P48T-E | Human | Esophagus | ESCC | 5.79e-08 | 2.51e-01 | 0.0959 |
54840 | APTX | P49T-E | Human | Esophagus | ESCC | 1.36e-07 | 8.49e-01 | 0.1768 |
54840 | APTX | P52T-E | Human | Esophagus | ESCC | 2.46e-17 | 4.93e-01 | 0.1555 |
54840 | APTX | P54T-E | Human | Esophagus | ESCC | 2.49e-15 | 4.12e-01 | 0.0975 |
54840 | APTX | P56T-E | Human | Esophagus | ESCC | 7.40e-06 | 8.46e-01 | 0.1613 |
54840 | APTX | P57T-E | Human | Esophagus | ESCC | 4.08e-14 | 1.82e-01 | 0.0926 |
54840 | APTX | P61T-E | Human | Esophagus | ESCC | 2.61e-18 | 4.27e-01 | 0.099 |
54840 | APTX | P62T-E | Human | Esophagus | ESCC | 4.58e-43 | 8.20e-01 | 0.1302 |
54840 | APTX | P65T-E | Human | Esophagus | ESCC | 7.38e-15 | 2.59e-01 | 0.0978 |
54840 | APTX | P74T-E | Human | Esophagus | ESCC | 7.47e-31 | 8.30e-01 | 0.1479 |
54840 | APTX | P75T-E | Human | Esophagus | ESCC | 2.44e-45 | 9.22e-01 | 0.1125 |
54840 | APTX | P76T-E | Human | Esophagus | ESCC | 3.03e-24 | 3.81e-01 | 0.1207 |
54840 | APTX | P79T-E | Human | Esophagus | ESCC | 3.00e-23 | 5.05e-01 | 0.1154 |
54840 | APTX | P80T-E | Human | Esophagus | ESCC | 9.58e-34 | 8.97e-01 | 0.155 |
54840 | APTX | P82T-E | Human | Esophagus | ESCC | 1.26e-06 | 4.46e-01 | 0.1072 |
54840 | APTX | P83T-E | Human | Esophagus | ESCC | 1.12e-34 | 1.03e+00 | 0.1738 |
54840 | APTX | P84T-E | Human | Esophagus | ESCC | 1.42e-07 | 4.41e-01 | 0.0933 |
54840 | APTX | P89T-E | Human | Esophagus | ESCC | 1.34e-21 | 1.36e+00 | 0.1752 |
54840 | APTX | P91T-E | Human | Esophagus | ESCC | 4.27e-22 | 1.51e+00 | 0.1828 |
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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:000697910 | Cervix | CC | response to oxidative stress | 102/2311 | 446/18723 | 2.99e-10 | 4.36e-08 | 102 |
GO:000030210 | Cervix | CC | response to reactive oxygen species | 56/2311 | 222/18723 | 1.00e-07 | 5.25e-06 | 56 |
GO:004254210 | Cervix | CC | response to hydrogen peroxide | 40/2311 | 146/18723 | 6.79e-07 | 2.46e-05 | 40 |
GO:003164710 | Cervix | CC | regulation of protein stability | 63/2311 | 298/18723 | 1.14e-05 | 2.45e-04 | 63 |
GO:00163117 | Cervix | CC | dephosphorylation | 73/2311 | 417/18723 | 1.23e-03 | 9.87e-03 | 73 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:0000302111 | Esophagus | ESCC | response to reactive oxygen species | 150/8552 | 222/18723 | 3.06e-11 | 1.02e-09 | 150 |
GO:001631110 | Esophagus | ESCC | dephosphorylation | 251/8552 | 417/18723 | 1.26e-09 | 2.99e-08 | 251 |
GO:0042542111 | Esophagus | ESCC | response to hydrogen peroxide | 102/8552 | 146/18723 | 2.64e-09 | 5.81e-08 | 102 |
GO:00903053 | Esophagus | ESCC | nucleic acid phosphodiester bond hydrolysis | 163/8552 | 261/18723 | 3.07e-08 | 5.73e-07 | 163 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:00062661 | Esophagus | ESCC | DNA ligation | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
GO:000697920 | Oral cavity | OSCC | response to oxidative stress | 273/7305 | 446/18723 | 8.35e-22 | 1.65e-19 | 273 |
GO:003164720 | Oral cavity | OSCC | regulation of protein stability | 193/7305 | 298/18723 | 1.30e-19 | 1.95e-17 | 193 |
GO:000030220 | Oral cavity | OSCC | response to reactive oxygen species | 143/7305 | 222/18723 | 1.32e-14 | 7.88e-13 | 143 |
GO:004254219 | Oral cavity | OSCC | response to hydrogen peroxide | 101/7305 | 146/18723 | 1.30e-13 | 6.66e-12 | 101 |
GO:00163119 | Oral cavity | OSCC | dephosphorylation | 220/7305 | 417/18723 | 6.33e-09 | 1.34e-07 | 220 |
GO:00903052 | Oral cavity | OSCC | nucleic acid phosphodiester bond hydrolysis | 142/7305 | 261/18723 | 2.90e-07 | 4.43e-06 | 142 |
GO:00063023 | Oral cavity | OSCC | double-strand break repair | 132/7305 | 251/18723 | 7.93e-06 | 8.52e-05 | 132 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa034104 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa0341011 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa03410 | Oral cavity | OSCC | Base excision repair | 32/3704 | 44/8465 | 9.11e-05 | 3.25e-04 | 1.65e-04 | 32 |
hsa034101 | Oral cavity | OSCC | Base excision repair | 32/3704 | 44/8465 | 9.11e-05 | 3.25e-04 | 1.65e-04 | 32 |
hsa034102 | Oral cavity | LP | Base excision repair | 23/2418 | 44/8465 | 7.66e-04 | 3.75e-03 | 2.42e-03 | 23 |
hsa034103 | Oral cavity | LP | Base excision repair | 23/2418 | 44/8465 | 7.66e-04 | 3.75e-03 | 2.42e-03 | 23 |
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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 |
APTX | SNV | Missense_Mutation | rs149867156 | c.883N>A | p.Glu295Lys | p.E295K | Q7Z2E3 | protein_coding | tolerated(0.48) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
APTX | SNV | Missense_Mutation | c.103A>T | p.Ile35Phe | p.I35F | Q7Z2E3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A0FZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
APTX | SNV | Missense_Mutation | c.649N>A | p.Ala217Thr | p.A217T | Q7Z2E3 | protein_coding | tolerated(1) | benign(0) | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
APTX | SNV | Missense_Mutation | c.473N>G | p.Pro158Arg | p.P158R | Q7Z2E3 | protein_coding | tolerated(0.51) | benign(0.021) | TCGA-BH-A0AV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | |
APTX | SNV | Missense_Mutation | c.470N>G | p.Ala157Gly | p.A157G | Q7Z2E3 | protein_coding | tolerated(0.26) | benign(0.001) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
APTX | SNV | Missense_Mutation | novel | c.461N>A | p.Gly154Glu | p.G154E | Q7Z2E3 | protein_coding | tolerated(0.44) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
APTX | SNV | Missense_Mutation | c.991N>G | p.Gln331Glu | p.Q331E | Q7Z2E3 | protein_coding | tolerated(0.22) | benign(0.053) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
APTX | SNV | Missense_Mutation | novel | c.533N>A | p.Pro178His | p.P178H | Q7Z2E3 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
APTX | SNV | Missense_Mutation | novel | c.176N>C | p.Lys59Thr | p.K59T | Q7Z2E3 | protein_coding | deleterious(0) | possibly_damaging(0.838) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
APTX | SNV | Missense_Mutation | rs746257545 | c.8G>A | p.Arg3Gln | p.R3Q | Q7Z2E3 | protein_coding | tolerated(0.23) | benign(0.006) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | 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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