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:00106312 | Colorectum | MSS | epithelial cell migration | 92/3467 | 357/18723 | 3.87e-04 | 4.86e-03 | 92 |
GO:00074092 | Colorectum | MSS | axonogenesis | 105/3467 | 418/18723 | 4.32e-04 | 5.23e-03 | 105 |
GO:00615642 | Colorectum | MSS | axon development | 115/3467 | 467/18723 | 5.33e-04 | 6.00e-03 | 115 |
GO:00106322 | Colorectum | MSS | regulation of epithelial cell migration | 77/3467 | 292/18723 | 5.39e-04 | 6.04e-03 | 77 |
GO:00901302 | Colorectum | MSS | tissue migration | 93/3467 | 365/18723 | 5.42e-04 | 6.06e-03 | 93 |
GO:01501162 | Colorectum | MSS | regulation of cell-substrate junction organization | 25/3467 | 71/18723 | 6.31e-04 | 6.94e-03 | 25 |
GO:00480412 | Colorectum | MSS | focal adhesion assembly | 29/3467 | 87/18723 | 6.84e-04 | 7.37e-03 | 29 |
GO:00457731 | Colorectum | MSS | positive regulation of axon extension | 17/3467 | 42/18723 | 7.63e-04 | 8.10e-03 | 17 |
GO:00486381 | Colorectum | MSS | regulation of developmental growth | 84/3467 | 330/18723 | 1.01e-03 | 1.01e-02 | 84 |
GO:00486391 | Colorectum | MSS | positive regulation of developmental growth | 49/3467 | 174/18723 | 1.17e-03 | 1.13e-02 | 49 |
GO:00459272 | Colorectum | MSS | positive regulation of growth | 68/3467 | 259/18723 | 1.24e-03 | 1.19e-02 | 68 |
GO:00303072 | Colorectum | MSS | positive regulation of cell growth | 47/3467 | 166/18723 | 1.29e-03 | 1.23e-02 | 47 |
GO:00083611 | Colorectum | MSS | regulation of cell size | 50/3467 | 181/18723 | 1.65e-03 | 1.49e-02 | 50 |
GO:00485881 | Colorectum | MSS | developmental cell growth | 61/3467 | 234/18723 | 2.56e-03 | 2.03e-02 | 61 |
GO:00605601 | Colorectum | MSS | developmental growth involved in morphogenesis | 61/3467 | 234/18723 | 2.56e-03 | 2.03e-02 | 61 |
GO:00507701 | Colorectum | MSS | regulation of axonogenesis | 43/3467 | 154/18723 | 2.69e-03 | 2.12e-02 | 43 |
GO:00518932 | Colorectum | MSS | regulation of focal adhesion assembly | 22/3467 | 66/18723 | 2.89e-03 | 2.24e-02 | 22 |
GO:00901092 | Colorectum | MSS | regulation of cell-substrate junction assembly | 22/3467 | 66/18723 | 2.89e-03 | 2.24e-02 | 22 |
GO:00486751 | Colorectum | MSS | axon extension | 35/3467 | 120/18723 | 2.95e-03 | 2.28e-02 | 35 |
GO:00305161 | Colorectum | MSS | regulation of axon extension | 29/3467 | 95/18723 | 3.13e-03 | 2.38e-02 | 29 |
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 |