Tissue | Expression Dynamics | Abbreviation |
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/POF1B_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/POF1B_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/POF1B_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/POF1B_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:0002064 | Colorectum | AD | epithelial cell development | 89/3918 | 220/18723 | 2.98e-11 | 3.52e-09 | 89 |
GO:0045216 | Colorectum | AD | cell-cell junction organization | 80/3918 | 200/18723 | 5.57e-10 | 4.58e-08 | 80 |
GO:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0007043 | Colorectum | AD | cell-cell junction assembly | 57/3918 | 146/18723 | 4.18e-07 | 1.61e-05 | 57 |
GO:0043297 | Colorectum | AD | apical junction assembly | 34/3918 | 78/18723 | 5.31e-06 | 1.37e-04 | 34 |
GO:0120193 | Colorectum | AD | tight junction organization | 33/3918 | 80/18723 | 2.93e-05 | 5.42e-04 | 33 |
GO:0120192 | Colorectum | AD | tight junction assembly | 31/3918 | 74/18723 | 3.53e-05 | 6.43e-04 | 31 |
GO:0070830 | Colorectum | AD | bicellular tight junction assembly | 28/3918 | 70/18723 | 2.15e-04 | 2.83e-03 | 28 |
GO:00070152 | Colorectum | MSS | actin filament organization | 146/3467 | 442/18723 | 1.16e-13 | 2.67e-11 | 146 |
GO:00020642 | Colorectum | MSS | epithelial cell development | 81/3467 | 220/18723 | 1.02e-10 | 1.06e-08 | 81 |
GO:00452162 | Colorectum | MSS | cell-cell junction organization | 69/3467 | 200/18723 | 5.07e-08 | 2.70e-06 | 69 |
GO:00343292 | Colorectum | MSS | cell junction assembly | 120/3467 | 420/18723 | 2.51e-07 | 1.07e-05 | 120 |
GO:00070432 | Colorectum | MSS | cell-cell junction assembly | 50/3467 | 146/18723 | 4.24e-06 | 1.21e-04 | 50 |
GO:00432972 | Colorectum | MSS | apical junction assembly | 28/3467 | 78/18723 | 2.12e-04 | 2.95e-03 | 28 |
GO:01201932 | Colorectum | MSS | tight junction organization | 27/3467 | 80/18723 | 8.31e-04 | 8.68e-03 | 27 |
GO:01201922 | Colorectum | MSS | tight junction assembly | 25/3467 | 74/18723 | 1.25e-03 | 1.20e-02 | 25 |
GO:00708302 | Colorectum | MSS | bicellular tight junction assembly | 22/3467 | 70/18723 | 6.42e-03 | 4.27e-02 | 22 |
GO:00070154 | Colorectum | FAP | actin filament organization | 125/2622 | 442/18723 | 1.97e-15 | 3.03e-12 | 125 |
GO:00343293 | Colorectum | FAP | cell junction assembly | 105/2622 | 420/18723 | 1.03e-09 | 2.18e-07 | 105 |
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 |
POF1B | SNV | Missense_Mutation | novel | c.1469N>T | p.Ser490Leu | p.S490L | Q8WVV4 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-A8-A081-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POF1B | SNV | Missense_Mutation | | c.169N>T | p.Gly57Trp | p.G57W | Q8WVV4 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POF1B | SNV | Missense_Mutation | | c.553C>G | p.Gln185Glu | p.Q185E | Q8WVV4 | protein_coding | tolerated_low_confidence(0.09) | benign(0.037) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
POF1B | SNV | Missense_Mutation | novel | c.842G>T | p.Arg281Ile | p.R281I | Q8WVV4 | protein_coding | deleterious(0) | possibly_damaging(0.653) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POF1B | SNV | Missense_Mutation | | c.394N>A | p.Pro132Thr | p.P132T | Q8WVV4 | protein_coding | tolerated_low_confidence(0.1) | probably_damaging(0.998) | TCGA-EW-A3U0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
POF1B | deletion | Frame_Shift_Del | novel | c.1744delA | p.Thr582GlnfsTer8 | p.T582Qfs*8 | Q8WVV4 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
POF1B | SNV | Missense_Mutation | novel | c.1144N>T | p.Ala382Ser | p.A382S | Q8WVV4 | protein_coding | deleterious(0.02) | benign(0.092) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
POF1B | SNV | Missense_Mutation | rs769700681 | c.797N>A | p.Arg266His | p.R266H | Q8WVV4 | protein_coding | deleterious(0.05) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
POF1B | SNV | Missense_Mutation | novel | c.368N>T | p.Ser123Phe | p.S123F | Q8WVV4 | protein_coding | tolerated_low_confidence(0.08) | probably_damaging(0.994) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
POF1B | SNV | Missense_Mutation | novel | c.922G>A | p.Glu308Lys | p.E308K | Q8WVV4 | protein_coding | deleterious(0) | benign(0.269) | TCGA-EX-A1H6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |