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:006156412 | Endometrium | EEC | axon development | 93/2168 | 467/18723 | 9.60e-08 | 4.69e-06 | 93 |
GO:001604915 | Endometrium | EEC | cell growth | 95/2168 | 482/18723 | 1.16e-07 | 5.54e-06 | 95 |
GO:003253516 | Endometrium | EEC | regulation of cellular component size | 79/2168 | 383/18723 | 1.98e-07 | 8.93e-06 | 79 |
GO:001076915 | Endometrium | EEC | regulation of cell morphogenesis involved in differentiation | 30/2168 | 96/18723 | 2.09e-07 | 9.21e-06 | 30 |
GO:006056013 | Endometrium | EEC | developmental growth involved in morphogenesis | 54/2168 | 234/18723 | 4.60e-07 | 1.78e-05 | 54 |
GO:000740912 | Endometrium | EEC | axonogenesis | 82/2168 | 418/18723 | 1.03e-06 | 3.49e-05 | 82 |
GO:005165613 | Endometrium | EEC | establishment of organelle localization | 75/2168 | 390/18723 | 6.23e-06 | 1.49e-04 | 75 |
GO:007155914 | Endometrium | EEC | response to transforming growth factor beta | 54/2168 | 256/18723 | 8.25e-06 | 1.83e-04 | 54 |
GO:005105612 | Endometrium | EEC | regulation of small GTPase mediated signal transduction | 61/2168 | 302/18723 | 9.42e-06 | 2.08e-04 | 61 |
GO:000247816 | Endometrium | EEC | antigen processing and presentation of exogenous peptide antigen | 15/2168 | 38/18723 | 9.82e-06 | 2.16e-04 | 15 |
GO:004819313 | Endometrium | EEC | Golgi vesicle transport | 60/2168 | 296/18723 | 9.91e-06 | 2.17e-04 | 60 |
GO:001988416 | Endometrium | EEC | antigen processing and presentation of exogenous antigen | 17/2168 | 47/18723 | 1.02e-05 | 2.22e-04 | 17 |
GO:001988615 | Endometrium | EEC | antigen processing and presentation of exogenous peptide antigen via MHC class II | 13/2168 | 30/18723 | 1.15e-05 | 2.40e-04 | 13 |
GO:004867513 | Endometrium | EEC | axon extension | 31/2168 | 120/18723 | 1.17e-05 | 2.43e-04 | 31 |
GO:000155814 | Endometrium | EEC | regulation of cell growth | 77/2168 | 414/18723 | 1.64e-05 | 3.16e-04 | 77 |
GO:007156014 | Endometrium | EEC | cellular response to transforming growth factor beta stimulus | 52/2168 | 250/18723 | 1.81e-05 | 3.41e-04 | 52 |
GO:000689815 | Endometrium | EEC | receptor-mediated endocytosis | 51/2168 | 244/18723 | 1.89e-05 | 3.50e-04 | 51 |
GO:000717814 | Endometrium | EEC | transmembrane receptor protein serine/threonine kinase signaling pathway | 68/2168 | 355/18723 | 1.90e-05 | 3.50e-04 | 68 |
GO:001077014 | Endometrium | EEC | positive regulation of cell morphogenesis involved in differentiation | 23/2168 | 79/18723 | 1.96e-05 | 3.57e-04 | 23 |
GO:004858813 | Endometrium | EEC | developmental cell growth | 49/2168 | 234/18723 | 2.59e-05 | 4.56e-04 | 49 |
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 |