Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00331199 | Breast | Precancer | negative regulation of RNA splicing | 9/1080 | 25/18723 | 6.03e-06 | 1.72e-04 | 9 |
GO:00436209 | Breast | Precancer | regulation of DNA-templated transcription in response to stress | 13/1080 | 53/18723 | 7.06e-06 | 1.95e-04 | 13 |
GO:00436189 | Breast | Precancer | regulation of transcription from RNA polymerase II promoter in response to stress | 12/1080 | 47/18723 | 1.02e-05 | 2.67e-04 | 12 |
GO:19058979 | Breast | Precancer | regulation of response to endoplasmic reticulum stress | 16/1080 | 82/18723 | 1.53e-05 | 3.75e-04 | 16 |
GO:19035739 | Breast | Precancer | negative regulation of response to endoplasmic reticulum stress | 10/1080 | 44/18723 | 1.61e-04 | 2.69e-03 | 10 |
GO:00320696 | Breast | Precancer | regulation of nuclease activity | 7/1080 | 22/18723 | 1.65e-04 | 2.74e-03 | 7 |
GO:00700598 | Breast | Precancer | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 12/1080 | 63/18723 | 2.21e-04 | 3.37e-03 | 12 |
GO:00026836 | Breast | Precancer | negative regulation of immune system process | 41/1080 | 434/18723 | 1.33e-03 | 1.40e-02 | 41 |
GO:00324697 | Breast | Precancer | endoplasmic reticulum calcium ion homeostasis | 6/1080 | 25/18723 | 2.49e-03 | 2.28e-02 | 6 |
GO:00511008 | Breast | Precancer | negative regulation of binding | 19/1080 | 162/18723 | 2.56e-03 | 2.32e-02 | 19 |
GO:00972017 | Breast | Precancer | negative regulation of transcription from RNA polymerase II promoter in response to stress | 4/1080 | 12/18723 | 3.75e-03 | 3.04e-02 | 4 |
GO:00109596 | Breast | Precancer | regulation of metal ion transport | 37/1080 | 406/18723 | 4.07e-03 | 3.22e-02 | 37 |
GO:00105231 | Breast | Precancer | negative regulation of calcium ion transport into cytosol | 5/1080 | 20/18723 | 4.74e-03 | 3.61e-02 | 5 |
GO:19022369 | Breast | Precancer | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 5/1080 | 20/18723 | 4.74e-03 | 3.61e-02 | 5 |
GO:00011015 | Breast | Precancer | response to acid chemical | 16/1080 | 135/18723 | 4.85e-03 | 3.67e-02 | 16 |
GO:0072503 | Breast | Precancer | cellular divalent inorganic cation homeostasis | 42/1080 | 486/18723 | 5.91e-03 | 4.21e-02 | 42 |
GO:1900037 | Breast | Precancer | regulation of cellular response to hypoxia | 4/1080 | 14/18723 | 6.92e-03 | 4.67e-02 | 4 |
GO:200123314 | Breast | IDC | regulation of apoptotic signaling pathway | 82/1434 | 356/18723 | 6.27e-20 | 5.93e-17 | 82 |
GO:009719314 | Breast | IDC | intrinsic apoptotic signaling pathway | 69/1434 | 288/18723 | 6.32e-18 | 2.99e-15 | 69 |
GO:200124214 | Breast | IDC | regulation of intrinsic apoptotic signaling pathway | 47/1434 | 164/18723 | 8.25e-16 | 2.93e-13 | 47 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513018 | Breast | Precancer | Pathogenic Escherichia coli infection | 38/684 | 197/8465 | 3.12e-07 | 5.81e-06 | 4.45e-06 | 38 |
hsa0513019 | Breast | Precancer | Pathogenic Escherichia coli infection | 38/684 | 197/8465 | 3.12e-07 | 5.81e-06 | 4.45e-06 | 38 |
hsa0513024 | Breast | IDC | Pathogenic Escherichia coli infection | 42/867 | 197/8465 | 2.66e-06 | 3.92e-05 | 2.94e-05 | 42 |
hsa0513034 | Breast | IDC | Pathogenic Escherichia coli infection | 42/867 | 197/8465 | 2.66e-06 | 3.92e-05 | 2.94e-05 | 42 |
hsa0513043 | Breast | DCIS | Pathogenic Escherichia coli infection | 42/846 | 197/8465 | 1.40e-06 | 2.15e-05 | 1.59e-05 | 42 |
hsa0513053 | Breast | DCIS | Pathogenic Escherichia coli infection | 42/846 | 197/8465 | 1.40e-06 | 2.15e-05 | 1.59e-05 | 42 |
hsa0513020 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa05130110 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa0513044 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
hsa0513054 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
hsa05130 | Colorectum | AD | Pathogenic Escherichia coli infection | 79/2092 | 197/8465 | 1.05e-06 | 1.36e-05 | 8.65e-06 | 79 |
hsa051301 | Colorectum | AD | Pathogenic Escherichia coli infection | 79/2092 | 197/8465 | 1.05e-06 | 1.36e-05 | 8.65e-06 | 79 |
hsa051302 | Colorectum | SER | Pathogenic Escherichia coli infection | 60/1580 | 197/8465 | 3.63e-05 | 4.31e-04 | 3.13e-04 | 60 |
hsa051303 | Colorectum | SER | Pathogenic Escherichia coli infection | 60/1580 | 197/8465 | 3.63e-05 | 4.31e-04 | 3.13e-04 | 60 |
hsa051304 | Colorectum | MSS | Pathogenic Escherichia coli infection | 73/1875 | 197/8465 | 1.10e-06 | 1.48e-05 | 9.06e-06 | 73 |
hsa051305 | Colorectum | MSS | Pathogenic Escherichia coli infection | 73/1875 | 197/8465 | 1.10e-06 | 1.48e-05 | 9.06e-06 | 73 |
hsa051306 | Colorectum | MSI-H | Pathogenic Escherichia coli infection | 31/797 | 197/8465 | 2.90e-03 | 2.93e-02 | 2.46e-02 | 31 |
hsa051307 | Colorectum | MSI-H | Pathogenic Escherichia coli infection | 31/797 | 197/8465 | 2.90e-03 | 2.93e-02 | 2.46e-02 | 31 |
hsa051308 | Colorectum | FAP | Pathogenic Escherichia coli infection | 62/1404 | 197/8465 | 1.37e-07 | 3.08e-06 | 1.87e-06 | 62 |
hsa051309 | Colorectum | FAP | Pathogenic Escherichia coli infection | 62/1404 | 197/8465 | 1.37e-07 | 3.08e-06 | 1.87e-06 | 62 |
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 |
TMBIM6 | SNV | Missense_Mutation | novel | c.104G>T | p.Arg35Leu | p.R35L | P55061 | protein_coding | tolerated_low_confidence(0.08) | benign(0.001) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
TMBIM6 | deletion | Frame_Shift_Del | novel | c.702delN | p.Gly235AspfsTer36 | p.G235Dfs*36 | P55061 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TMBIM6 | SNV | Missense_Mutation | | c.35N>T | p.Gln12Leu | p.Q12L | P55061 | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-AZ-5407-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMBIM6 | SNV | Missense_Mutation | | c.728N>A | p.Val243Asp | p.V243D | P55061 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
TMBIM6 | SNV | Missense_Mutation | | c.185T>C | p.Phe62Ser | p.F62S | P55061 | protein_coding | deleterious(0) | possibly_damaging(0.677) | TCGA-D5-7000-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMBIM6 | SNV | Missense_Mutation | novel | c.675N>G | p.Ile225Met | p.I225M | P55061 | protein_coding | tolerated(0.23) | benign(0.012) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMBIM6 | SNV | Missense_Mutation | novel | c.497N>A | p.Ala166Asp | p.A166D | P55061 | protein_coding | tolerated(0.53) | benign(0.007) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
TMBIM6 | SNV | Missense_Mutation | | c.521N>T | p.Thr174Ile | p.T174I | P55061 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMBIM6 | insertion | Frame_Shift_Ins | novel | c.731_732insA | p.Asp246Ter | p.D246* | P55061 | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TMBIM6 | insertion | Nonsense_Mutation | novel | c.732_733insGAAGGATAATGGGAAGGC | p.Leu244_Phe245insGluGlyTerTrpGluGly | p.L244_F245insEG*WEG | P55061 | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |