Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/AAMDC_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/AAMDC_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/AAMDC_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/AAMDC_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/AAMDC_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/AAMDC_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:00454444 | Breast | Precancer | fat cell differentiation | 26/1080 | 229/18723 | 7.60e-04 | 9.04e-03 | 26 |
GO:00456003 | Breast | Precancer | positive regulation of fat cell differentiation | 10/1080 | 66/18723 | 4.34e-03 | 3.39e-02 | 10 |
GO:004544412 | Breast | IDC | fat cell differentiation | 30/1434 | 229/18723 | 2.72e-03 | 2.41e-02 | 30 |
GO:004560011 | Breast | IDC | positive regulation of fat cell differentiation | 12/1434 | 66/18723 | 3.99e-03 | 3.23e-02 | 12 |
GO:004544421 | Breast | DCIS | fat cell differentiation | 30/1390 | 229/18723 | 1.70e-03 | 1.68e-02 | 30 |
GO:004560021 | Breast | DCIS | positive regulation of fat cell differentiation | 12/1390 | 66/18723 | 3.10e-03 | 2.63e-02 | 12 |
GO:00454449 | Esophagus | ESCC | fat cell differentiation | 135/8552 | 229/18723 | 3.38e-05 | 2.78e-04 | 135 |
GO:00456007 | Esophagus | ESCC | positive regulation of fat cell differentiation | 46/8552 | 66/18723 | 6.72e-05 | 5.11e-04 | 46 |
GO:00455984 | Esophagus | ESCC | regulation of fat cell differentiation | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
GO:00454442 | Liver | Cirrhotic | fat cell differentiation | 73/4634 | 229/18723 | 8.57e-03 | 3.97e-02 | 73 |
GO:00454441 | Liver | HCC | fat cell differentiation | 120/7958 | 229/18723 | 1.52e-03 | 8.05e-03 | 120 |
GO:00454448 | Oral cavity | OSCC | fat cell differentiation | 120/7305 | 229/18723 | 2.48e-05 | 2.32e-04 | 120 |
GO:00455983 | Oral cavity | OSCC | regulation of fat cell differentiation | 77/7305 | 139/18723 | 6.36e-05 | 5.18e-04 | 77 |
GO:00456006 | Oral cavity | OSCC | positive regulation of fat cell differentiation | 41/7305 | 66/18723 | 1.20e-04 | 8.60e-04 | 41 |
GO:004544417 | Thyroid | HT | fat cell differentiation | 29/1272 | 229/18723 | 8.88e-04 | 9.30e-03 | 29 |
GO:00455986 | Thyroid | HT | regulation of fat cell differentiation | 20/1272 | 139/18723 | 1.14e-03 | 1.14e-02 | 20 |
GO:00456009 | Thyroid | HT | positive regulation of fat cell differentiation | 12/1272 | 66/18723 | 1.47e-03 | 1.37e-02 | 12 |
GO:004544418 | Thyroid | PTC | fat cell differentiation | 102/5968 | 229/18723 | 3.66e-05 | 3.40e-04 | 102 |
GO:004560015 | Thyroid | PTC | positive regulation of fat cell differentiation | 33/5968 | 66/18723 | 1.63e-03 | 9.01e-03 | 33 |
GO:004559814 | Thyroid | PTC | regulation of fat cell differentiation | 59/5968 | 139/18723 | 5.50e-03 | 2.50e-02 | 59 |
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 |
AAMDC | insertion | Frame_Shift_Ins | novel | c.217_218insCAGCATTAACTCAAAAGTCCACAGTTCAAAGTCCTATCTG | p.Glu73AlafsTer14 | p.E73Afs*14 | | protein_coding | | | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AAMDC | SNV | Missense_Mutation | novel | c.101G>A | p.Arg34Gln | p.R34Q | | protein_coding | tolerated_low_confidence(0.07) | benign(0.23) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
AAMDC | SNV | Missense_Mutation | novel | c.371N>A | p.Ser124Asn | p.S124N | | protein_coding | | benign(0.003) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
AAMDC | SNV | Missense_Mutation | novel | c.415N>A | p.Leu139Ile | p.L139I | | protein_coding | | benign(0.094) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
AAMDC | SNV | Missense_Mutation | | c.189N>T | p.Gln63His | p.Q63H | | protein_coding | deleterious_low_confidence(0.01) | benign(0.04) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AAMDC | SNV | Missense_Mutation | | c.58A>G | p.Asn20Asp | p.N20D | | protein_coding | tolerated_low_confidence(0.24) | benign(0.029) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AAMDC | SNV | Missense_Mutation | rs546888173 | c.88N>T | p.Pro30Ser | p.P30S | | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |