Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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:003133034 | Oral cavity | NEOLP | negative regulation of cellular catabolic process | 52/2005 | 262/18723 | 8.04e-06 | 1.57e-04 | 52 |
GO:000989533 | Oral cavity | NEOLP | negative regulation of catabolic process | 59/2005 | 320/18723 | 2.16e-05 | 3.57e-04 | 59 |
GO:001003833 | Oral cavity | NEOLP | response to metal ion | 66/2005 | 373/18723 | 2.83e-05 | 4.34e-04 | 66 |
GO:004670031 | Oral cavity | NEOLP | heterocycle catabolic process | 75/2005 | 445/18723 | 4.61e-05 | 6.38e-04 | 75 |
GO:005105231 | Oral cavity | NEOLP | regulation of DNA metabolic process | 63/2005 | 359/18723 | 5.48e-05 | 7.44e-04 | 63 |
GO:200102031 | Oral cavity | NEOLP | regulation of response to DNA damage stimulus | 43/2005 | 219/18723 | 6.13e-05 | 8.19e-04 | 43 |
GO:190237313 | Oral cavity | NEOLP | negative regulation of mRNA catabolic process | 18/2005 | 63/18723 | 7.26e-05 | 9.41e-04 | 18 |
GO:005105431 | Oral cavity | NEOLP | positive regulation of DNA metabolic process | 40/2005 | 201/18723 | 8.01e-05 | 1.01e-03 | 40 |
GO:190236931 | Oral cavity | NEOLP | negative regulation of RNA catabolic process | 20/2005 | 75/18723 | 8.63e-05 | 1.07e-03 | 20 |
GO:004427031 | Oral cavity | NEOLP | cellular nitrogen compound catabolic process | 74/2005 | 451/18723 | 1.24e-04 | 1.47e-03 | 74 |
GO:001943931 | Oral cavity | NEOLP | aromatic compound catabolic process | 75/2005 | 467/18723 | 2.22e-04 | 2.34e-03 | 75 |
GO:004348914 | Oral cavity | NEOLP | RNA stabilization | 17/2005 | 65/18723 | 3.68e-04 | 3.49e-03 | 17 |
GO:190136131 | Oral cavity | NEOLP | organic cyclic compound catabolic process | 77/2005 | 495/18723 | 4.96e-04 | 4.40e-03 | 77 |
GO:004825514 | Oral cavity | NEOLP | mRNA stabilization | 15/2005 | 56/18723 | 6.08e-04 | 5.23e-03 | 15 |
GO:200102221 | Oral cavity | NEOLP | positive regulation of response to DNA damage stimulus | 21/2005 | 105/18723 | 3.45e-03 | 2.05e-02 | 21 |
GO:20007812 | Oral cavity | NEOLP | positive regulation of double-strand break repair | 10/2005 | 40/18723 | 8.10e-03 | 3.99e-02 | 10 |
GO:190331116 | Prostate | BPH | regulation of mRNA metabolic process | 111/3107 | 288/18723 | 2.28e-19 | 1.17e-16 | 111 |
GO:000838018 | Prostate | BPH | RNA splicing | 147/3107 | 434/18723 | 5.17e-19 | 2.29e-16 | 147 |
GO:004348418 | Prostate | BPH | regulation of RNA splicing | 71/3107 | 148/18723 | 6.14e-19 | 2.53e-16 | 71 |
GO:000640216 | Prostate | BPH | mRNA catabolic process | 84/3107 | 232/18723 | 3.25e-13 | 3.10e-11 | 84 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa030408 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0304013 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
hsa0501423 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0304023 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
hsa0501433 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0502233 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0304033 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
hsa0501443 | Breast | DCIS | Amyotrophic lateral sclerosis | 101/846 | 364/8465 | 7.14e-23 | 2.88e-21 | 2.12e-21 | 101 |
hsa0502243 | Breast | DCIS | Pathways of neurodegeneration - multiple diseases | 114/846 | 476/8465 | 4.74e-20 | 1.53e-18 | 1.13e-18 | 114 |
hsa0501453 | Breast | DCIS | Amyotrophic lateral sclerosis | 101/846 | 364/8465 | 7.14e-23 | 2.88e-21 | 2.12e-21 | 101 |
hsa0502253 | Breast | DCIS | Pathways of neurodegeneration - multiple diseases | 114/846 | 476/8465 | 4.74e-20 | 1.53e-18 | 1.13e-18 | 114 |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa03040 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
hsa03015 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
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 |
FUS | SNV | Missense_Mutation | | c.1530N>C | p.Lys510Asn | p.K510N | P35637 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.601) | TCGA-A8-A08O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | PD |
FUS | SNV | Missense_Mutation | | c.259N>A | p.Ser87Thr | p.S87T | P35637 | protein_coding | tolerated(0.23) | benign(0.133) | TCGA-E2-A1LS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cyclophosphamide | SD |
FUS | SNV | Missense_Mutation | novel | c.1327N>A | p.Glu443Lys | p.E443K | P35637 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-UU-A93S-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
FUS | insertion | Nonsense_Mutation | novel | c.660_661insCGTCAGCCACAATGCCCTGAATGTTGCTTTTCTTAAACCTG | p.Ser221ArgfsTer12 | p.S221Rfs*12 | P35637 | protein_coding | | | TCGA-AN-A0FK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
FUS | SNV | Missense_Mutation | | c.1130G>A | p.Arg377Gln | p.R377Q | P35637 | protein_coding | deleterious(0.01) | benign(0.158) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
FUS | SNV | Missense_Mutation | rs768259829 | c.1249G>A | p.Gly417Ser | p.G417S | P35637 | protein_coding | tolerated(0.2) | benign(0.113) | TCGA-A5-A0G9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FUS | SNV | Missense_Mutation | rs121909671 | c.1562N>A | p.Arg521His | p.R521H | P35637 | protein_coding | deleterious_low_confidence(0.01) | benign(0) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FUS | SNV | Missense_Mutation | novel | c.86G>A | p.Ser29Asn | p.S29N | P35637 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FUS | SNV | Missense_Mutation | | c.1553G>T | p.Arg518Ile | p.R518I | P35637 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.986) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FUS | SNV | Missense_Mutation | novel | c.158N>T | p.Ser53Ile | p.S53I | P35637 | protein_coding | deleterious(0.01) | probably_damaging(0.914) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |