Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/MACF1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/MACF1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/MACF1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/MACF1_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/MACF1_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/MACF1_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/MACF1_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/MACF1_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/MACF1_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/MACF1_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/MACF1_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:004592722 | Oral cavity | NEOLP | positive regulation of growth | 45/2005 | 259/18723 | 7.42e-04 | 6.05e-03 | 45 |
GO:004858822 | Oral cavity | NEOLP | developmental cell growth | 41/2005 | 234/18723 | 1.05e-03 | 8.00e-03 | 41 |
GO:003030721 | Oral cavity | NEOLP | positive regulation of cell growth | 31/2005 | 166/18723 | 1.45e-03 | 1.03e-02 | 31 |
GO:005196012 | Oral cavity | NEOLP | regulation of nervous system development | 68/2005 | 443/18723 | 1.46e-03 | 1.03e-02 | 68 |
GO:005077221 | Oral cavity | NEOLP | positive regulation of axonogenesis | 18/2005 | 79/18723 | 1.46e-03 | 1.03e-02 | 18 |
GO:009887631 | Oral cavity | NEOLP | vesicle-mediated transport to the plasma membrane | 26/2005 | 136/18723 | 2.40e-03 | 1.53e-02 | 26 |
GO:004863814 | Oral cavity | NEOLP | regulation of developmental growth | 51/2005 | 330/18723 | 4.64e-03 | 2.56e-02 | 51 |
GO:004863913 | Oral cavity | NEOLP | positive regulation of developmental growth | 30/2005 | 174/18723 | 5.83e-03 | 3.04e-02 | 30 |
GO:000836121 | Oral cavity | NEOLP | regulation of cell size | 30/2005 | 181/18723 | 1.02e-02 | 4.76e-02 | 30 |
GO:004819310 | Prostate | BPH | Golgi vesicle transport | 102/3107 | 296/18723 | 3.90e-14 | 4.56e-12 | 102 |
GO:015011515 | Prostate | BPH | cell-substrate junction organization | 49/3107 | 101/18723 | 9.49e-14 | 1.01e-11 | 49 |
GO:000704410 | Prostate | BPH | cell-substrate junction assembly | 46/3107 | 95/18723 | 5.89e-13 | 5.21e-11 | 46 |
GO:001604910 | Prostate | BPH | cell growth | 139/3107 | 482/18723 | 7.53e-12 | 5.90e-10 | 139 |
GO:002260417 | Prostate | BPH | regulation of cell morphogenesis | 99/3107 | 309/18723 | 1.30e-11 | 9.72e-10 | 99 |
GO:003158910 | Prostate | BPH | cell-substrate adhesion | 110/3107 | 363/18723 | 4.64e-11 | 2.96e-09 | 110 |
GO:004206018 | Prostate | BPH | wound healing | 123/3107 | 422/18723 | 5.74e-11 | 3.59e-09 | 123 |
GO:015011615 | Prostate | BPH | regulation of cell-substrate junction organization | 35/3107 | 71/18723 | 1.81e-10 | 1.02e-08 | 35 |
GO:00160559 | Prostate | BPH | Wnt signaling pathway | 126/3107 | 444/18723 | 2.27e-10 | 1.23e-08 | 126 |
GO:01987389 | Prostate | BPH | cell-cell signaling by wnt | 126/3107 | 446/18723 | 3.11e-10 | 1.67e-08 | 126 |
GO:007265916 | Prostate | BPH | protein localization to plasma membrane | 89/3107 | 284/18723 | 5.00e-10 | 2.56e-08 | 89 |
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 |
MACF1 | SNV | Missense_Mutation | novel | c.7798N>G | p.Gln2600Glu | p.Q2600E | Q9UPN3 | protein_coding | tolerated(0.13) | benign(0.006) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
MACF1 | SNV | Missense_Mutation | | c.8631N>C | p.Glu2877Asp | p.E2877D | Q9UPN3 | protein_coding | tolerated(0.1) | benign(0.054) | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
MACF1 | SNV | Missense_Mutation | rs761570070 | c.14837N>A | p.Arg4946Gln | p.R4946Q | Q9UPN3 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MACF1 | SNV | Missense_Mutation | novel | c.6629N>T | p.Thr2210Ile | p.T2210I | Q9UPN3 | protein_coding | deleterious(0.04) | benign(0.211) | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
MACF1 | SNV | Missense_Mutation | | c.14091N>T | p.Lys4697Asn | p.K4697N | Q9UPN3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MACF1 | SNV | Missense_Mutation | novel | c.13989G>T | p.Lys4663Asn | p.K4663N | Q9UPN3 | protein_coding | tolerated(0.07) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MACF1 | SNV | Missense_Mutation | rs749774177 | c.14554N>A | p.Asp4852Asn | p.D4852N | Q9UPN3 | protein_coding | tolerated(0.08) | probably_damaging(0.937) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MACF1 | SNV | Missense_Mutation | | c.12536N>A | p.Cys4179Tyr | p.C4179Y | Q9UPN3 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MACF1 | SNV | Missense_Mutation | | c.470N>A | p.Arg157His | p.R157H | Q9UPN3 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MACF1 | SNV | Missense_Mutation | novel | c.5482N>C | p.Glu1828Gln | p.E1828Q | Q9UPN3 | protein_coding | tolerated(0.06) | possibly_damaging(0.521) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |