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Gene: EXOSC2 |
Gene summary for EXOSC2 |
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Gene information | Species | Human | Gene symbol | EXOSC2 | Gene ID | 23404 |
Gene name | exosome component 2 | |
Gene Alias | RRP4 | |
Cytomap | 9q34.12 | |
Gene Type | protein-coding | GO ID | GO:0000288 | UniProtAcc | Q13868 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
23404 | EXOSC2 | LZE4T | Human | Esophagus | ESCC | 2.57e-03 | 1.30e-01 | 0.0811 |
23404 | EXOSC2 | LZE20T | Human | Esophagus | ESCC | 1.91e-02 | 7.64e-02 | 0.0662 |
23404 | EXOSC2 | LZE24T | Human | Esophagus | ESCC | 3.31e-07 | 1.96e-01 | 0.0596 |
23404 | EXOSC2 | LZE21T | Human | Esophagus | ESCC | 3.04e-03 | 2.11e-01 | 0.0655 |
23404 | EXOSC2 | P1T-E | Human | Esophagus | ESCC | 1.68e-02 | 2.16e-01 | 0.0875 |
23404 | EXOSC2 | P2T-E | Human | Esophagus | ESCC | 2.00e-23 | 4.86e-01 | 0.1177 |
23404 | EXOSC2 | P4T-E | Human | Esophagus | ESCC | 7.47e-18 | 4.22e-01 | 0.1323 |
23404 | EXOSC2 | P5T-E | Human | Esophagus | ESCC | 7.50e-14 | 3.08e-01 | 0.1327 |
23404 | EXOSC2 | P8T-E | Human | Esophagus | ESCC | 7.15e-16 | 2.88e-01 | 0.0889 |
23404 | EXOSC2 | P9T-E | Human | Esophagus | ESCC | 5.78e-10 | 1.98e-01 | 0.1131 |
23404 | EXOSC2 | P10T-E | Human | Esophagus | ESCC | 5.74e-11 | 2.01e-01 | 0.116 |
23404 | EXOSC2 | P11T-E | Human | Esophagus | ESCC | 1.12e-08 | 2.65e-01 | 0.1426 |
23404 | EXOSC2 | P12T-E | Human | Esophagus | ESCC | 5.55e-10 | 1.68e-01 | 0.1122 |
23404 | EXOSC2 | P15T-E | Human | Esophagus | ESCC | 7.25e-12 | 1.99e-01 | 0.1149 |
23404 | EXOSC2 | P16T-E | Human | Esophagus | ESCC | 6.55e-18 | 2.55e-01 | 0.1153 |
23404 | EXOSC2 | P17T-E | Human | Esophagus | ESCC | 4.67e-02 | 1.31e-01 | 0.1278 |
23404 | EXOSC2 | P20T-E | Human | Esophagus | ESCC | 2.28e-05 | 1.35e-01 | 0.1124 |
23404 | EXOSC2 | P21T-E | Human | Esophagus | ESCC | 7.53e-21 | 4.27e-01 | 0.1617 |
23404 | EXOSC2 | P22T-E | Human | Esophagus | ESCC | 4.14e-15 | 2.63e-01 | 0.1236 |
23404 | EXOSC2 | P23T-E | Human | Esophagus | ESCC | 5.23e-13 | 1.78e-01 | 0.108 |
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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:003466011 | Oral cavity | LP | ncRNA metabolic process | 205/4623 | 485/18723 | 6.46e-18 | 1.09e-15 | 205 |
GO:000640319 | Oral cavity | LP | RNA localization | 105/4623 | 201/18723 | 3.34e-17 | 5.36e-15 | 105 |
GO:190331119 | Oral cavity | LP | regulation of mRNA metabolic process | 129/4623 | 288/18723 | 5.70e-14 | 6.10e-12 | 129 |
GO:003465518 | Oral cavity | LP | nucleobase-containing compound catabolic process | 161/4623 | 407/18723 | 1.61e-11 | 1.15e-09 | 161 |
GO:0009896110 | Oral cavity | LP | positive regulation of catabolic process | 187/4623 | 492/18723 | 2.30e-11 | 1.58e-09 | 187 |
GO:000640119 | Oral cavity | LP | RNA catabolic process | 118/4623 | 278/18723 | 4.98e-11 | 3.12e-09 | 118 |
GO:001943916 | Oral cavity | LP | aromatic compound catabolic process | 176/4623 | 467/18723 | 1.96e-10 | 1.08e-08 | 176 |
GO:0031331110 | Oral cavity | LP | positive regulation of cellular catabolic process | 163/4623 | 427/18723 | 3.03e-10 | 1.59e-08 | 163 |
GO:004427017 | Oral cavity | LP | cellular nitrogen compound catabolic process | 170/4623 | 451/18723 | 3.93e-10 | 2.02e-08 | 170 |
GO:004670016 | Oral cavity | LP | heterocycle catabolic process | 168/4623 | 445/18723 | 4.35e-10 | 2.20e-08 | 168 |
GO:0006417110 | Oral cavity | LP | regulation of translation | 175/4623 | 468/18723 | 4.49e-10 | 2.22e-08 | 175 |
GO:190136116 | Oral cavity | LP | organic cyclic compound catabolic process | 180/4623 | 495/18723 | 3.11e-09 | 1.35e-07 | 180 |
GO:000640219 | Oral cavity | LP | mRNA catabolic process | 97/4623 | 232/18723 | 6.51e-09 | 2.65e-07 | 97 |
GO:000046011 | Oral cavity | LP | maturation of 5.8S rRNA | 23/4623 | 35/18723 | 3.43e-07 | 1.00e-05 | 23 |
GO:000095616 | Oral cavity | LP | nuclear-transcribed mRNA catabolic process | 50/4623 | 112/18723 | 3.09e-06 | 6.63e-05 | 50 |
GO:009050111 | Oral cavity | LP | RNA phosphodiester bond hydrolysis | 63/4623 | 152/18723 | 3.88e-06 | 8.13e-05 | 63 |
GO:00004691 | Oral cavity | LP | cleavage involved in rRNA processing | 18/4623 | 27/18723 | 4.92e-06 | 9.94e-05 | 18 |
GO:190331315 | Oral cavity | LP | positive regulation of mRNA metabolic process | 51/4623 | 118/18723 | 7.73e-06 | 1.46e-04 | 51 |
GO:003112311 | Oral cavity | LP | RNA 3'-end processing | 48/4623 | 116/18723 | 5.51e-05 | 7.58e-04 | 48 |
GO:00903051 | Oral cavity | LP | nucleic acid phosphodiester bond hydrolysis | 92/4623 | 261/18723 | 8.07e-05 | 1.04e-03 | 92 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0301824 | Esophagus | ESCC | RNA degradation | 62/4205 | 79/8465 | 1.18e-07 | 9.39e-07 | 4.81e-07 | 62 |
hsa0301834 | Esophagus | ESCC | RNA degradation | 62/4205 | 79/8465 | 1.18e-07 | 9.39e-07 | 4.81e-07 | 62 |
hsa030182 | Liver | HCC | RNA degradation | 58/4020 | 79/8465 | 2.29e-06 | 2.19e-05 | 1.22e-05 | 58 |
hsa030183 | Liver | HCC | RNA degradation | 58/4020 | 79/8465 | 2.29e-06 | 2.19e-05 | 1.22e-05 | 58 |
hsa030189 | Oral cavity | OSCC | RNA degradation | 59/3704 | 79/8465 | 2.05e-08 | 1.91e-07 | 9.70e-08 | 59 |
hsa0301814 | Oral cavity | OSCC | RNA degradation | 59/3704 | 79/8465 | 2.05e-08 | 1.91e-07 | 9.70e-08 | 59 |
hsa0301823 | Oral cavity | LP | RNA degradation | 39/2418 | 79/8465 | 6.98e-05 | 4.38e-04 | 2.83e-04 | 39 |
hsa0301833 | Oral cavity | LP | RNA degradation | 39/2418 | 79/8465 | 6.98e-05 | 4.38e-04 | 2.83e-04 | 39 |
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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 |
EXOSC2 | insertion | Frame_Shift_Ins | novel | c.17_18insA | p.Leu7AlafsTer9 | p.L7Afs*9 | Q13868 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
EXOSC2 | SNV | Missense_Mutation | novel | c.395G>C | p.Arg132Thr | p.R132T | Q13868 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-VS-A8EK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
EXOSC2 | SNV | Missense_Mutation | rs140638723 | c.58N>A | p.Arg20Ser | p.R20S | Q13868 | protein_coding | tolerated(0.78) | benign(0.001) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EXOSC2 | SNV | Missense_Mutation | rs150081500 | c.317C>T | p.Ser106Leu | p.S106L | Q13868 | protein_coding | deleterious(0) | possibly_damaging(0.9) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXOSC2 | SNV | Missense_Mutation | novel | c.48N>C | p.Glu16Asp | p.E16D | Q13868 | protein_coding | tolerated(0.61) | benign(0.023) | TCGA-AG-3726-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXOSC2 | SNV | Missense_Mutation | rs561877923 | c.712N>T | p.Arg238Trp | p.R238W | Q13868 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
EXOSC2 | SNV | Missense_Mutation | novel | c.650N>A | p.Gly217Glu | p.G217E | Q13868 | protein_coding | tolerated(0.26) | benign(0.271) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EXOSC2 | SNV | Missense_Mutation | novel | c.371N>A | p.Ser124Tyr | p.S124Y | Q13868 | protein_coding | deleterious(0.02) | probably_damaging(0.971) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
EXOSC2 | SNV | Missense_Mutation | novel | c.434T>C | p.Val145Ala | p.V145A | Q13868 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EXOSC2 | SNV | Missense_Mutation | novel | c.602G>A | p.Gly201Asp | p.G201D | Q13868 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid 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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