Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/DIAPH1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/DIAPH1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/DIAPH1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/DIAPH1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/DIAPH1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Prostate/DIAPH1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/DIAPH1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/DIAPH1_pca_on_diff_genes.png) | 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:002260415 | Endometrium | AEH | regulation of cell morphogenesis | 79/2100 | 309/18723 | 1.04e-12 | 2.24e-10 | 79 |
GO:000701516 | Endometrium | AEH | actin filament organization | 98/2100 | 442/18723 | 1.99e-11 | 2.98e-09 | 98 |
GO:005125816 | Endometrium | AEH | protein polymerization | 62/2100 | 297/18723 | 9.04e-07 | 3.19e-05 | 62 |
GO:005165116 | Endometrium | AEH | maintenance of location in cell | 44/2100 | 214/18723 | 4.84e-05 | 7.94e-04 | 44 |
GO:000815410 | Endometrium | AEH | actin polymerization or depolymerization | 44/2100 | 218/18723 | 7.64e-05 | 1.15e-03 | 44 |
GO:00083609 | Endometrium | AEH | regulation of cell shape | 34/2100 | 154/18723 | 7.85e-05 | 1.18e-03 | 34 |
GO:005123510 | Endometrium | AEH | maintenance of location | 60/2100 | 327/18723 | 8.19e-05 | 1.22e-03 | 60 |
GO:003004110 | Endometrium | AEH | actin filament polymerization | 39/2100 | 191/18723 | 1.47e-04 | 1.96e-03 | 39 |
GO:00109597 | Endometrium | AEH | regulation of metal ion transport | 66/2100 | 406/18723 | 1.24e-03 | 1.07e-02 | 66 |
GO:19040623 | Endometrium | AEH | regulation of cation transmembrane transport | 55/2100 | 357/18723 | 9.18e-03 | 4.96e-02 | 55 |
GO:002260416 | Endometrium | EEC | regulation of cell morphogenesis | 78/2168 | 309/18723 | 1.45e-11 | 2.28e-09 | 78 |
GO:000701517 | Endometrium | EEC | actin filament organization | 95/2168 | 442/18723 | 1.31e-09 | 1.09e-07 | 95 |
GO:005125817 | Endometrium | EEC | protein polymerization | 63/2168 | 297/18723 | 1.24e-06 | 4.07e-05 | 63 |
GO:005123515 | Endometrium | EEC | maintenance of location | 62/2168 | 327/18723 | 5.92e-05 | 9.13e-04 | 62 |
GO:005165117 | Endometrium | EEC | maintenance of location in cell | 44/2168 | 214/18723 | 1.02e-04 | 1.41e-03 | 44 |
GO:000836014 | Endometrium | EEC | regulation of cell shape | 34/2168 | 154/18723 | 1.47e-04 | 1.87e-03 | 34 |
GO:000815415 | Endometrium | EEC | actin polymerization or depolymerization | 44/2168 | 218/18723 | 1.59e-04 | 2.00e-03 | 44 |
GO:003004115 | Endometrium | EEC | actin filament polymerization | 39/2168 | 191/18723 | 2.85e-04 | 3.22e-03 | 39 |
GO:001095914 | Endometrium | EEC | regulation of metal ion transport | 70/2168 | 406/18723 | 4.12e-04 | 4.35e-03 | 70 |
GO:005165126 | Esophagus | HGIN | maintenance of location in cell | 53/2587 | 214/18723 | 1.22e-05 | 3.45e-04 | 53 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513126 | Endometrium | AEH | Shigellosis | 78/1197 | 247/8465 | 9.23e-13 | 2.00e-11 | 1.46e-11 | 78 |
hsa0451015 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa049337 | Endometrium | AEH | AGE-RAGE signaling pathway in diabetic complications | 28/1197 | 100/8465 | 2.11e-04 | 1.80e-03 | 1.32e-03 | 28 |
hsa0481018 | Endometrium | AEH | Regulation of actin cytoskeleton | 50/1197 | 229/8465 | 9.08e-04 | 5.78e-03 | 4.23e-03 | 50 |
hsa05131111 | Endometrium | AEH | Shigellosis | 78/1197 | 247/8465 | 9.23e-13 | 2.00e-11 | 1.46e-11 | 78 |
hsa0451016 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0493314 | Endometrium | AEH | AGE-RAGE signaling pathway in diabetic complications | 28/1197 | 100/8465 | 2.11e-04 | 1.80e-03 | 1.32e-03 | 28 |
hsa0481019 | Endometrium | AEH | Regulation of actin cytoskeleton | 50/1197 | 229/8465 | 9.08e-04 | 5.78e-03 | 4.23e-03 | 50 |
hsa0513127 | Endometrium | EEC | Shigellosis | 79/1237 | 247/8465 | 1.80e-12 | 3.95e-11 | 2.95e-11 | 79 |
hsa0451024 | Endometrium | EEC | Focal adhesion | 58/1237 | 203/8465 | 1.61e-07 | 2.30e-06 | 1.71e-06 | 58 |
hsa0493321 | Endometrium | EEC | AGE-RAGE signaling pathway in diabetic complications | 28/1237 | 100/8465 | 3.68e-04 | 3.03e-03 | 2.26e-03 | 28 |
hsa0481024 | Endometrium | EEC | Regulation of actin cytoskeleton | 49/1237 | 229/8465 | 3.20e-03 | 1.78e-02 | 1.33e-02 | 49 |
hsa0513136 | Endometrium | EEC | Shigellosis | 79/1237 | 247/8465 | 1.80e-12 | 3.95e-11 | 2.95e-11 | 79 |
hsa0451034 | Endometrium | EEC | Focal adhesion | 58/1237 | 203/8465 | 1.61e-07 | 2.30e-06 | 1.71e-06 | 58 |
hsa0493331 | Endometrium | EEC | AGE-RAGE signaling pathway in diabetic complications | 28/1237 | 100/8465 | 3.68e-04 | 3.03e-03 | 2.26e-03 | 28 |
hsa0481034 | Endometrium | EEC | Regulation of actin cytoskeleton | 49/1237 | 229/8465 | 3.20e-03 | 1.78e-02 | 1.33e-02 | 49 |
hsa0513139 | Esophagus | HGIN | Shigellosis | 71/1383 | 247/8465 | 4.89e-07 | 7.98e-06 | 6.34e-06 | 71 |
hsa05131114 | Esophagus | HGIN | Shigellosis | 71/1383 | 247/8465 | 4.89e-07 | 7.98e-06 | 6.34e-06 | 71 |
hsa05131211 | Esophagus | ESCC | Shigellosis | 176/4205 | 247/8465 | 2.27e-12 | 4.01e-11 | 2.05e-11 | 176 |
hsa0493310 | Esophagus | ESCC | AGE-RAGE signaling pathway in diabetic complications | 72/4205 | 100/8465 | 4.15e-06 | 2.28e-05 | 1.17e-05 | 72 |
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 |
DIAPH1 | SNV | Missense_Mutation | novel | c.1352N>G | p.Asp451Gly | p.D451G | O60610 | protein_coding | deleterious(0) | benign(0.372) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
DIAPH1 | SNV | Missense_Mutation | novel | c.2498A>G | p.Glu833Gly | p.E833G | O60610 | protein_coding | deleterious(0) | possibly_damaging(0.551) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIAPH1 | SNV | Missense_Mutation | novel | c.2411A>T | p.Asp804Val | p.D804V | O60610 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIAPH1 | SNV | Missense_Mutation | rs370578225 | c.2795N>A | p.Arg932Gln | p.R932Q | O60610 | protein_coding | deleterious(0.02) | benign(0.053) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DIAPH1 | SNV | Missense_Mutation | | c.2365G>A | p.Ala789Thr | p.A789T | O60610 | protein_coding | deleterious(0) | possibly_damaging(0.782) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIAPH1 | SNV | Missense_Mutation | novel | c.1442C>G | p.Ala481Gly | p.A481G | O60610 | protein_coding | deleterious(0.04) | possibly_damaging(0.908) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
DIAPH1 | SNV | Missense_Mutation | novel | c.388T>C | p.Tyr130His | p.Y130H | O60610 | protein_coding | tolerated(0.77) | benign(0.024) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
DIAPH1 | SNV | Missense_Mutation | rs761209182 | c.2514N>T | p.Lys838Asn | p.K838N | O60610 | protein_coding | deleterious(0.03) | probably_damaging(0.911) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIAPH1 | SNV | Missense_Mutation | novel | c.3320N>C | p.Met1107Thr | p.M1107T | O60610 | protein_coding | deleterious(0) | possibly_damaging(0.689) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
DIAPH1 | SNV | Missense_Mutation | novel | c.1288N>C | p.Tyr430His | p.Y430H | O60610 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |