Tissue | Expression Dynamics | Abbreviation |
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 |
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:00315894 | Colorectum | CRC | cell-substrate adhesion | 78/2078 | 363/18723 | 6.22e-09 | 1.49e-06 | 78 |
GO:00108115 | Colorectum | CRC | positive regulation of cell-substrate adhesion | 37/2078 | 123/18723 | 8.34e-09 | 1.85e-06 | 37 |
GO:00068924 | Colorectum | CRC | post-Golgi vesicle-mediated transport | 33/2078 | 104/18723 | 1.22e-08 | 2.52e-06 | 33 |
GO:00160494 | Colorectum | CRC | cell growth | 95/2078 | 482/18723 | 1.51e-08 | 2.75e-06 | 95 |
GO:00325354 | Colorectum | CRC | regulation of cellular component size | 79/2078 | 383/18723 | 3.30e-08 | 4.60e-06 | 79 |
GO:19023055 | Colorectum | CRC | regulation of sodium ion transmembrane transport | 24/2078 | 68/18723 | 1.23e-07 | 1.45e-05 | 24 |
GO:00072653 | Colorectum | CRC | Ras protein signal transduction | 70/2078 | 337/18723 | 1.49e-07 | 1.66e-05 | 70 |
GO:00975815 | Colorectum | CRC | lamellipodium organization | 28/2078 | 90/18723 | 2.43e-07 | 2.27e-05 | 28 |
GO:00605603 | Colorectum | CRC | developmental growth involved in morphogenesis | 53/2078 | 234/18723 | 2.88e-07 | 2.54e-05 | 53 |
GO:00074094 | Colorectum | CRC | axonogenesis | 81/2078 | 418/18723 | 3.60e-07 | 2.99e-05 | 81 |
GO:20006495 | Colorectum | CRC | regulation of sodium ion transmembrane transporter activity | 21/2078 | 58/18723 | 4.58e-07 | 3.39e-05 | 21 |
GO:00988764 | Colorectum | CRC | vesicle-mediated transport to the plasma membrane | 36/2078 | 136/18723 | 4.65e-07 | 3.40e-05 | 36 |
GO:19027435 | Colorectum | CRC | regulation of lamellipodium organization | 20/2078 | 54/18723 | 5.62e-07 | 4.00e-05 | 20 |
GO:00516564 | Colorectum | CRC | establishment of organelle localization | 76/2078 | 390/18723 | 6.53e-07 | 4.50e-05 | 76 |
GO:19027455 | Colorectum | CRC | positive regulation of lamellipodium organization | 16/2078 | 37/18723 | 6.56e-07 | 4.50e-05 | 16 |
GO:00725833 | Colorectum | CRC | clathrin-dependent endocytosis | 18/2078 | 47/18723 | 1.16e-06 | 6.75e-05 | 18 |
GO:00615644 | Colorectum | CRC | axon development | 86/2078 | 467/18723 | 1.48e-06 | 8.12e-05 | 86 |
GO:00107655 | Colorectum | CRC | positive regulation of sodium ion transport | 15/2078 | 35/18723 | 1.69e-06 | 8.71e-05 | 15 |
GO:00516504 | Colorectum | CRC | establishment of vesicle localization | 39/2078 | 161/18723 | 1.82e-06 | 9.07e-05 | 39 |
GO:00015584 | Colorectum | CRC | regulation of cell growth | 78/2078 | 414/18723 | 1.84e-06 | 9.11e-05 | 78 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04144 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
hsa05100 | Colorectum | AD | Bacterial invasion of epithelial cells | 44/2092 | 77/8465 | 1.13e-09 | 2.22e-08 | 1.42e-08 | 44 |
hsa05132 | Colorectum | AD | Salmonella infection | 102/2092 | 249/8465 | 7.65e-09 | 1.28e-07 | 8.17e-08 | 102 |
hsa04666 | Colorectum | AD | Fc gamma R-mediated phagocytosis | 46/2092 | 97/8465 | 9.10e-07 | 1.22e-05 | 7.77e-06 | 46 |
hsa04961 | Colorectum | AD | Endocrine and other factor-regulated calcium reabsorption | 24/2092 | 53/8465 | 8.49e-04 | 5.93e-03 | 3.78e-03 | 24 |
hsa041441 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
hsa051001 | Colorectum | AD | Bacterial invasion of epithelial cells | 44/2092 | 77/8465 | 1.13e-09 | 2.22e-08 | 1.42e-08 | 44 |
hsa051321 | Colorectum | AD | Salmonella infection | 102/2092 | 249/8465 | 7.65e-09 | 1.28e-07 | 8.17e-08 | 102 |
hsa046661 | Colorectum | AD | Fc gamma R-mediated phagocytosis | 46/2092 | 97/8465 | 9.10e-07 | 1.22e-05 | 7.77e-06 | 46 |
hsa049611 | Colorectum | AD | Endocrine and other factor-regulated calcium reabsorption | 24/2092 | 53/8465 | 8.49e-04 | 5.93e-03 | 3.78e-03 | 24 |
hsa051002 | Colorectum | SER | Bacterial invasion of epithelial cells | 36/1580 | 77/8465 | 1.56e-08 | 3.45e-07 | 2.50e-07 | 36 |
hsa041442 | Colorectum | SER | Endocytosis | 81/1580 | 251/8465 | 1.14e-07 | 2.36e-06 | 1.71e-06 | 81 |
hsa046662 | Colorectum | SER | Fc gamma R-mediated phagocytosis | 39/1580 | 97/8465 | 5.84e-07 | 9.70e-06 | 7.04e-06 | 39 |
hsa051322 | Colorectum | SER | Salmonella infection | 77/1580 | 249/8465 | 1.56e-06 | 2.35e-05 | 1.71e-05 | 77 |
hsa049612 | Colorectum | SER | Endocrine and other factor-regulated calcium reabsorption | 19/1580 | 53/8465 | 2.32e-03 | 1.75e-02 | 1.27e-02 | 19 |
hsa051003 | Colorectum | SER | Bacterial invasion of epithelial cells | 36/1580 | 77/8465 | 1.56e-08 | 3.45e-07 | 2.50e-07 | 36 |
hsa041443 | Colorectum | SER | Endocytosis | 81/1580 | 251/8465 | 1.14e-07 | 2.36e-06 | 1.71e-06 | 81 |
hsa046663 | Colorectum | SER | Fc gamma R-mediated phagocytosis | 39/1580 | 97/8465 | 5.84e-07 | 9.70e-06 | 7.04e-06 | 39 |
hsa051323 | Colorectum | SER | Salmonella infection | 77/1580 | 249/8465 | 1.56e-06 | 2.35e-05 | 1.71e-05 | 77 |
hsa049613 | Colorectum | SER | Endocrine and other factor-regulated calcium reabsorption | 19/1580 | 53/8465 | 2.32e-03 | 1.75e-02 | 1.27e-02 | 19 |
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 |
DNM2 | SNV | Missense_Mutation | novel | c.1285N>C | p.Asp429His | p.D429H | P50570 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
DNM2 | SNV | Missense_Mutation | novel | c.873N>T | p.Glu291Asp | p.E291D | P50570 | protein_coding | tolerated(1) | benign(0.007) | TCGA-E9-A1RF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
DNM2 | insertion | Frame_Shift_Ins | novel | c.1822_1823insTGCCCAGCCAAAACTTTTTTTATAAAAA | p.Asp608ValfsTer116 | p.D608Vfs*116 | P50570 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DNM2 | SNV | Missense_Mutation | novel | c.646N>A | p.Ala216Thr | p.A216T | P50570 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DNM2 | SNV | Missense_Mutation | novel | c.2509N>T | p.Arg837Trp | p.R837W | P50570 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.639) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DNM2 | SNV | Missense_Mutation | | c.1584N>G | p.Ile528Met | p.I528M | P50570 | protein_coding | deleterious(0.03) | possibly_damaging(0.766) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
DNM2 | SNV | Missense_Mutation | novel | c.766N>G | p.Arg256Gly | p.R256G | P50570 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-VS-A9UO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DNM2 | SNV | Missense_Mutation | novel | c.767N>C | p.Arg256Thr | p.R256T | P50570 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-VS-A9UO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DNM2 | SNV | Missense_Mutation | | c.886N>A | p.Leu296Ile | p.L296I | P50570 | protein_coding | tolerated(0.2) | possibly_damaging(0.823) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DNM2 | SNV | Missense_Mutation | rs749953105 | c.2170C>T | p.Arg724Cys | p.R724C | P50570 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |