Tissue | Expression Dynamics | Abbreviation |
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 |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00072656 | Cervix | CC | Ras protein signal transduction | 79/2311 | 337/18723 | 9.49e-09 | 7.77e-07 | 79 |
GO:003425010 | Cervix | CC | positive regulation of cellular amide metabolic process | 40/2311 | 162/18723 | 1.11e-05 | 2.41e-04 | 40 |
GO:000641710 | Cervix | CC | regulation of translation | 89/2311 | 468/18723 | 1.86e-05 | 3.46e-04 | 89 |
GO:004572710 | Cervix | CC | positive regulation of translation | 33/2311 | 136/18723 | 9.09e-05 | 1.20e-03 | 33 |
GO:01200328 | Cervix | CC | regulation of plasma membrane bounded cell projection assembly | 38/2311 | 186/18723 | 1.14e-03 | 9.35e-03 | 38 |
GO:00604917 | Cervix | CC | regulation of cell projection assembly | 38/2311 | 188/18723 | 1.40e-03 | 1.10e-02 | 38 |
GO:00300337 | Cervix | CC | microvillus assembly | 7/2311 | 16/18723 | 1.79e-03 | 1.34e-02 | 7 |
GO:0006417 | Colorectum | AD | regulation of translation | 141/3918 | 468/18723 | 1.32e-06 | 4.22e-05 | 141 |
GO:0007265 | Colorectum | AD | Ras protein signal transduction | 104/3918 | 337/18723 | 1.01e-05 | 2.35e-04 | 104 |
GO:0032530 | Colorectum | AD | regulation of microvillus organization | 10/3918 | 13/18723 | 2.43e-05 | 4.69e-04 | 10 |
GO:0016042 | Colorectum | AD | lipid catabolic process | 97/3918 | 320/18723 | 4.31e-05 | 7.56e-04 | 97 |
GO:0032528 | Colorectum | AD | microvillus organization | 14/3918 | 24/18723 | 6.90e-05 | 1.11e-03 | 14 |
GO:0034250 | Colorectum | AD | positive regulation of cellular amide metabolic process | 53/3918 | 162/18723 | 2.98e-04 | 3.60e-03 | 53 |
GO:0045727 | Colorectum | AD | positive regulation of translation | 45/3918 | 136/18723 | 6.24e-04 | 6.48e-03 | 45 |
GO:0030033 | Colorectum | AD | microvillus assembly | 9/3918 | 16/18723 | 2.06e-03 | 1.64e-02 | 9 |
GO:0048017 | Colorectum | AD | inositol lipid-mediated signaling | 53/3918 | 182/18723 | 5.35e-03 | 3.52e-02 | 53 |
GO:0006650 | Colorectum | AD | glycerophospholipid metabolic process | 83/3918 | 306/18723 | 5.40e-03 | 3.55e-02 | 83 |
GO:0006644 | Colorectum | AD | phospholipid metabolic process | 101/3918 | 383/18723 | 5.80e-03 | 3.67e-02 | 101 |
GO:0099003 | Colorectum | AD | vesicle-mediated transport in synapse | 57/3918 | 200/18723 | 6.53e-03 | 4.06e-02 | 57 |
GO:0045017 | Colorectum | AD | glycerolipid biosynthetic process | 69/3918 | 252/18723 | 8.33e-03 | 4.88e-02 | 69 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa052314 | Colorectum | CRC | Choline metabolism in cancer | 24/1091 | 98/8465 | 1.21e-03 | 9.84e-03 | 6.67e-03 | 24 |
hsa049288 | Colorectum | CRC | Parathyroid hormone synthesis, secretion and action | 24/1091 | 106/8465 | 3.71e-03 | 2.29e-02 | 1.55e-02 | 24 |
hsa0520810 | Colorectum | CRC | Chemical carcinogenesis - reactive oxygen species | 43/1091 | 223/8465 | 3.96e-03 | 2.36e-02 | 1.60e-02 | 43 |
hsa04724 | Colorectum | CRC | Glutamatergic synapse | 24/1091 | 115/8465 | 1.07e-02 | 4.74e-02 | 3.21e-02 | 24 |
hsa041449 | Colorectum | CRC | Endocytosis | 65/1091 | 251/8465 | 1.27e-08 | 1.06e-06 | 7.19e-07 | 65 |
hsa046669 | Colorectum | CRC | Fc gamma R-mediated phagocytosis | 27/1091 | 97/8465 | 6.24e-05 | 1.12e-03 | 7.57e-04 | 27 |
hsa049129 | Colorectum | CRC | GnRH signaling pathway | 25/1091 | 93/8465 | 2.11e-04 | 2.71e-03 | 1.84e-03 | 25 |
hsa040717 | Colorectum | CRC | Sphingolipid signaling pathway | 30/1091 | 121/8465 | 2.49e-04 | 3.09e-03 | 2.09e-03 | 30 |
hsa040141 | Colorectum | CRC | Ras signaling pathway | 49/1091 | 236/8465 | 4.04e-04 | 4.50e-03 | 3.05e-03 | 49 |
hsa040243 | Colorectum | CRC | cAMP signaling pathway | 47/1091 | 225/8465 | 4.57e-04 | 4.77e-03 | 3.23e-03 | 47 |
hsa052315 | Colorectum | CRC | Choline metabolism in cancer | 24/1091 | 98/8465 | 1.21e-03 | 9.84e-03 | 6.67e-03 | 24 |
hsa049289 | Colorectum | CRC | Parathyroid hormone synthesis, secretion and action | 24/1091 | 106/8465 | 3.71e-03 | 2.29e-02 | 1.55e-02 | 24 |
hsa0520811 | Colorectum | CRC | Chemical carcinogenesis - reactive oxygen species | 43/1091 | 223/8465 | 3.96e-03 | 2.36e-02 | 1.60e-02 | 43 |
hsa047241 | Colorectum | CRC | Glutamatergic synapse | 24/1091 | 115/8465 | 1.07e-02 | 4.74e-02 | 3.21e-02 | 24 |
hsa0520839 | Esophagus | HGIN | Chemical carcinogenesis - reactive oxygen species | 92/1383 | 223/8465 | 2.41e-19 | 9.83e-18 | 7.80e-18 | 92 |
hsa0414429 | Esophagus | HGIN | Endocytosis | 76/1383 | 251/8465 | 1.74e-08 | 3.34e-07 | 2.65e-07 | 76 |
hsa05208115 | Esophagus | HGIN | Chemical carcinogenesis - reactive oxygen species | 92/1383 | 223/8465 | 2.41e-19 | 9.83e-18 | 7.80e-18 | 92 |
hsa04144113 | Esophagus | HGIN | Endocytosis | 76/1383 | 251/8465 | 1.74e-08 | 3.34e-07 | 2.65e-07 | 76 |
hsa04144210 | Esophagus | ESCC | Endocytosis | 186/4205 | 251/8465 | 9.74e-16 | 4.66e-14 | 2.39e-14 | 186 |
hsa05208211 | Esophagus | ESCC | Chemical carcinogenesis - reactive oxygen species | 168/4205 | 223/8465 | 1.83e-15 | 6.81e-14 | 3.49e-14 | 168 |
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 |
PLD1 | SNV | Missense_Mutation | rs774453063 | c.1376N>G | p.Tyr459Cys | p.Y459C | Q13393 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-A2-A25D-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
PLD1 | SNV | Missense_Mutation | | c.1448N>T | p.Ala483Val | p.A483V | Q13393 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-A8-A08P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
PLD1 | SNV | Missense_Mutation | | c.1583N>C | p.Lys528Thr | p.K528T | Q13393 | protein_coding | tolerated(0.46) | benign(0.013) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PLD1 | SNV | Missense_Mutation | | c.734G>A | p.Arg245Lys | p.R245K | Q13393 | protein_coding | tolerated(0.52) | benign(0.021) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PLD1 | SNV | Missense_Mutation | | c.1183G>C | p.Glu395Gln | p.E395Q | Q13393 | protein_coding | tolerated(0.05) | possibly_damaging(0.84) | TCGA-C8-A1HK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PLD1 | SNV | Missense_Mutation | | c.3218N>C | p.Trp1073Ser | p.W1073S | Q13393 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-C8-A27B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PLD1 | SNV | Missense_Mutation | | c.247G>A | p.Ala83Thr | p.A83T | Q13393 | protein_coding | deleterious(0.04) | benign(0.287) | TCGA-D8-A27N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol+adriamycin+cyclophosphamide+herceptin | SD |
PLD1 | SNV | Missense_Mutation | novel | c.179C>A | p.Ala60Asp | p.A60D | Q13393 | protein_coding | tolerated(0.06) | benign(0.282) | TCGA-MS-A51U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PLD1 | deletion | Frame_Shift_Del | novel | c.2769_2770delNN | p.Asp924GlnfsTer2 | p.D924Qfs*2 | Q13393 | protein_coding | | | TCGA-A2-A3XY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
PLD1 | insertion | Frame_Shift_Ins | novel | c.75_76insCGTCTCACCCCTGCCAATTGCCTGGTGCACGGCTTATATTTGTG | p.Glu26ArgfsTer30 | p.E26Rfs*30 | Q13393 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |