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:003010014 | Endometrium | EEC | regulation of endocytosis | 45/2168 | 211/18723 | 3.40e-05 | 5.78e-04 | 45 |
GO:004825913 | Endometrium | EEC | regulation of receptor-mediated endocytosis | 28/2168 | 110/18723 | 4.07e-05 | 6.78e-04 | 28 |
GO:000726513 | Endometrium | EEC | Ras protein signal transduction | 64/2168 | 337/18723 | 4.31e-05 | 7.10e-04 | 64 |
GO:004826014 | Endometrium | EEC | positive regulation of receptor-mediated endocytosis | 17/2168 | 52/18723 | 4.62e-05 | 7.45e-04 | 17 |
GO:004800216 | Endometrium | EEC | antigen processing and presentation of peptide antigen | 19/2168 | 62/18723 | 4.65e-05 | 7.48e-04 | 19 |
GO:000249515 | Endometrium | EEC | antigen processing and presentation of peptide antigen via MHC class II | 13/2168 | 34/18723 | 5.71e-05 | 8.96e-04 | 13 |
GO:199013813 | Endometrium | EEC | neuron projection extension | 38/2168 | 172/18723 | 6.08e-05 | 9.21e-04 | 38 |
GO:000836111 | Endometrium | EEC | regulation of cell size | 39/2168 | 181/18723 | 8.72e-05 | 1.24e-03 | 39 |
GO:000250415 | Endometrium | EEC | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 13/2168 | 36/18723 | 1.14e-04 | 1.54e-03 | 13 |
GO:001063915 | Endometrium | EEC | negative regulation of organelle organization | 64/2168 | 348/18723 | 1.15e-04 | 1.55e-03 | 64 |
GO:001072012 | Endometrium | EEC | positive regulation of cell development | 56/2168 | 298/18723 | 1.68e-04 | 2.10e-03 | 56 |
GO:004311214 | Endometrium | EEC | receptor metabolic process | 35/2168 | 166/18723 | 3.03e-04 | 3.39e-03 | 35 |
GO:004580715 | Endometrium | EEC | positive regulation of endocytosis | 24/2168 | 100/18723 | 3.66e-04 | 3.95e-03 | 24 |
GO:001988217 | Endometrium | EEC | antigen processing and presentation | 25/2168 | 106/18723 | 3.71e-04 | 3.97e-03 | 25 |
GO:007147915 | Endometrium | EEC | cellular response to ionizing radiation | 19/2168 | 72/18723 | 4.11e-04 | 4.35e-03 | 19 |
GO:001095914 | Endometrium | EEC | regulation of metal ion transport | 70/2168 | 406/18723 | 4.12e-04 | 4.35e-03 | 70 |
GO:003162312 | Endometrium | EEC | receptor internalization | 26/2168 | 113/18723 | 4.32e-04 | 4.50e-03 | 26 |
GO:000717914 | Endometrium | EEC | transforming growth factor beta receptor signaling pathway | 39/2168 | 198/18723 | 6.03e-04 | 5.98e-03 | 39 |
GO:008016414 | Endometrium | EEC | regulation of nitric oxide metabolic process | 17/2168 | 64/18723 | 7.49e-04 | 7.05e-03 | 17 |
GO:004863812 | Endometrium | EEC | regulation of developmental growth | 58/2168 | 330/18723 | 7.65e-04 | 7.16e-03 | 58 |
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 |