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Gene: ATXN2L |
Gene summary for ATXN2L |
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Gene information | Species | Human | Gene symbol | ATXN2L | Gene ID | 11273 |
Gene name | ataxin 2 like | |
Gene Alias | A2D | |
Cytomap | 16p11.2 | |
Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | H3BUF6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
11273 | ATXN2L | LZE4T | Human | Esophagus | ESCC | 6.09e-05 | 1.07e-01 | 0.0811 |
11273 | ATXN2L | LZE7T | Human | Esophagus | ESCC | 7.67e-09 | 6.27e-01 | 0.0667 |
11273 | ATXN2L | LZE8T | Human | Esophagus | ESCC | 6.97e-13 | 2.70e-01 | 0.067 |
11273 | ATXN2L | LZE20T | Human | Esophagus | ESCC | 5.56e-08 | 1.49e-01 | 0.0662 |
11273 | ATXN2L | LZE22T | Human | Esophagus | ESCC | 8.17e-09 | 5.75e-01 | 0.068 |
11273 | ATXN2L | LZE24T | Human | Esophagus | ESCC | 1.17e-31 | 1.05e+00 | 0.0596 |
11273 | ATXN2L | LZE21T | Human | Esophagus | ESCC | 6.75e-04 | 5.43e-01 | 0.0655 |
11273 | ATXN2L | P1T-E | Human | Esophagus | ESCC | 5.42e-19 | 1.04e+00 | 0.0875 |
11273 | ATXN2L | P2T-E | Human | Esophagus | ESCC | 1.02e-71 | 1.38e+00 | 0.1177 |
11273 | ATXN2L | P4T-E | Human | Esophagus | ESCC | 4.01e-55 | 1.54e+00 | 0.1323 |
11273 | ATXN2L | P5T-E | Human | Esophagus | ESCC | 2.84e-26 | 5.27e-01 | 0.1327 |
11273 | ATXN2L | P8T-E | Human | Esophagus | ESCC | 4.92e-31 | 6.49e-01 | 0.0889 |
11273 | ATXN2L | P9T-E | Human | Esophagus | ESCC | 2.06e-12 | 2.36e-01 | 0.1131 |
11273 | ATXN2L | P10T-E | Human | Esophagus | ESCC | 9.12e-22 | 3.97e-01 | 0.116 |
11273 | ATXN2L | P11T-E | Human | Esophagus | ESCC | 2.82e-17 | 8.00e-01 | 0.1426 |
11273 | ATXN2L | P12T-E | Human | Esophagus | ESCC | 1.29e-42 | 1.01e+00 | 0.1122 |
11273 | ATXN2L | P15T-E | Human | Esophagus | ESCC | 1.47e-27 | 7.21e-01 | 0.1149 |
11273 | ATXN2L | P16T-E | Human | Esophagus | ESCC | 1.53e-24 | 6.30e-01 | 0.1153 |
11273 | ATXN2L | P17T-E | Human | Esophagus | ESCC | 6.54e-09 | 4.62e-01 | 0.1278 |
11273 | ATXN2L | P19T-E | Human | Esophagus | ESCC | 7.68e-03 | 3.63e-01 | 0.1662 |
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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:003406315 | Esophagus | ESCC | stress granule assembly | 23/8552 | 26/18723 | 6.82e-06 | 6.90e-05 | 23 |
GO:00340633 | Liver | NAFLD | stress granule assembly | 9/1882 | 26/18723 | 6.56e-04 | 8.50e-03 | 9 |
GO:00340632 | Liver | HCC | stress granule assembly | 24/7958 | 26/18723 | 1.35e-07 | 2.57e-06 | 24 |
GO:00340637 | Oral cavity | OSCC | stress granule assembly | 21/7305 | 26/18723 | 1.66e-05 | 1.64e-04 | 21 |
GO:003406314 | Oral cavity | LP | stress granule assembly | 14/4623 | 26/18723 | 1.33e-03 | 1.07e-02 | 14 |
GO:003406317 | Thyroid | PTC | stress granule assembly | 21/5968 | 26/18723 | 3.95e-07 | 6.55e-06 | 21 |
GO:003406323 | Thyroid | ATC | stress granule assembly | 20/6293 | 26/18723 | 7.65e-06 | 7.83e-05 | 20 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
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 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
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 |
hsa0501432 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
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 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa0501725 | Oral cavity | OSCC | Spinocerebellar ataxia | 86/3704 | 143/8465 | 5.21e-05 | 2.08e-04 | 1.06e-04 | 86 |
hsa05014112 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa05017111 | Oral cavity | OSCC | Spinocerebellar ataxia | 86/3704 | 143/8465 | 5.21e-05 | 2.08e-04 | 1.06e-04 | 86 |
hsa0501429 | Oral cavity | LP | Amyotrophic lateral sclerosis | 197/2418 | 364/8465 | 1.25e-25 | 1.39e-23 | 8.93e-24 | 197 |
hsa0502229 | Oral cavity | LP | Pathways of neurodegeneration - multiple diseases | 232/2418 | 476/8465 | 7.77e-22 | 3.69e-20 | 2.38e-20 | 232 |
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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 |
ATXN2L | SNV | Missense_Mutation | c.1376C>T | p.Ser459Leu | p.S459L | Q8WWM7 | protein_coding | tolerated(0.09) | benign(0.244) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
ATXN2L | SNV | Missense_Mutation | c.1555G>C | p.Glu519Gln | p.E519Q | Q8WWM7 | protein_coding | deleterious(0.02) | possibly_damaging(0.719) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
ATXN2L | SNV | Missense_Mutation | c.1744G>C | p.Glu582Gln | p.E582Q | Q8WWM7 | protein_coding | tolerated(0.13) | benign(0.01) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
ATXN2L | SNV | Missense_Mutation | c.1954G>A | p.Glu652Lys | p.E652K | Q8WWM7 | protein_coding | deleterious(0.01) | benign(0.117) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
ATXN2L | SNV | Missense_Mutation | rs755684437 | c.650C>T | p.Ser217Leu | p.S217L | Q8WWM7 | protein_coding | deleterious(0.04) | possibly_damaging(0.9) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ATXN2L | SNV | Missense_Mutation | c.2584N>A | p.Pro862Thr | p.P862T | Q8WWM7 | protein_coding | tolerated(0.14) | benign(0.14) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ATXN2L | SNV | Missense_Mutation | rs150545281 | c.1108C>T | p.Arg370Trp | p.R370W | Q8WWM7 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-A6-6140-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | SD |
ATXN2L | SNV | Missense_Mutation | rs560637561 | c.2233C>T | p.Arg745Trp | p.R745W | Q8WWM7 | protein_coding | deleterious(0.02) | probably_damaging(0.984) | TCGA-AA-A01P-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
ATXN2L | SNV | Missense_Mutation | rs747182176 | c.3167N>A | p.Arg1056His | p.R1056H | Q8WWM7 | protein_coding | tolerated_low_confidence(0.15) | benign(0.272) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
ATXN2L | SNV | Missense_Mutation | c.883C>T | p.Arg295Cys | p.R295C | Q8WWM7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AD-A5EJ-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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