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/EPB41L4A_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/EPB41L4A_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/EPB41L4A_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/EPB41L4A_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/EPB41L4A_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:0031032 | Colorectum | AD | actomyosin structure organization | 65/3918 | 196/18723 | 4.17e-05 | 7.37e-04 | 65 |
GO:00310321 | Colorectum | SER | actomyosin structure organization | 45/2897 | 196/18723 | 3.60e-03 | 3.03e-02 | 45 |
GO:00310322 | Colorectum | MSS | actomyosin structure organization | 53/3467 | 196/18723 | 2.04e-03 | 1.75e-02 | 53 |
GO:00310323 | Colorectum | FAP | actomyosin structure organization | 51/2622 | 196/18723 | 5.89e-06 | 1.88e-04 | 51 |
GO:00310324 | Colorectum | CRC | actomyosin structure organization | 45/2078 | 196/18723 | 1.49e-06 | 8.14e-05 | 45 |
GO:003103210 | Endometrium | AEH | actomyosin structure organization | 46/2100 | 196/18723 | 8.00e-07 | 2.91e-05 | 46 |
GO:003103214 | Endometrium | EEC | actomyosin structure organization | 46/2168 | 196/18723 | 1.94e-06 | 5.80e-05 | 46 |
GO:00310327 | Lung | IAC | actomyosin structure organization | 46/2061 | 196/18723 | 4.70e-07 | 3.10e-05 | 46 |
GO:003103213 | Lung | AIS | actomyosin structure organization | 43/1849 | 196/18723 | 4.08e-07 | 3.25e-05 | 43 |
GO:003103232 | Lung | MIAC | actomyosin structure organization | 27/967 | 196/18723 | 3.17e-06 | 3.45e-04 | 27 |
GO:0031032110 | Thyroid | PTC | actomyosin structure organization | 91/5968 | 196/18723 | 1.35e-05 | 1.45e-04 | 91 |
GO:003103226 | Thyroid | ATC | actomyosin structure organization | 98/6293 | 196/18723 | 1.44e-06 | 1.77e-05 | 98 |
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 |
EPB41L4A | SNV | Missense_Mutation | | c.1694G>A | p.Gly565Glu | p.G565E | Q9HCS5 | protein_coding | deleterious(0) | possibly_damaging(0.759) | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EPB41L4A | SNV | Missense_Mutation | | c.145N>A | p.Val49Ile | p.V49I | Q9HCS5 | protein_coding | tolerated(0.36) | benign(0) | TCGA-AR-A0TV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPB41L4A | SNV | Missense_Mutation | novel | c.1975N>G | p.Gln659Glu | p.Q659E | Q9HCS5 | protein_coding | tolerated_low_confidence(0.14) | benign(0.015) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
EPB41L4A | SNV | Missense_Mutation | | c.1405N>C | p.Asp469His | p.D469H | Q9HCS5 | protein_coding | tolerated(0.1) | possibly_damaging(0.459) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EPB41L4A | SNV | Missense_Mutation | novel | c.1231N>T | p.His411Tyr | p.H411Y | Q9HCS5 | protein_coding | deleterious(0.01) | benign(0.04) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
EPB41L4A | insertion | Frame_Shift_Ins | novel | c.493_494insATCATTCTAGAAACTTTTC | p.Phe165TyrfsTer10 | p.F165Yfs*10 | Q9HCS5 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
EPB41L4A | SNV | Missense_Mutation | novel | c.1537N>T | p.Pro513Ser | p.P513S | Q9HCS5 | protein_coding | tolerated(0.14) | possibly_damaging(0.727) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EPB41L4A | SNV | Missense_Mutation | novel | c.1981N>C | p.Ser661Pro | p.S661P | Q9HCS5 | protein_coding | deleterious_low_confidence(0.01) | benign(0.23) | TCGA-A6-3808-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EPB41L4A | SNV | Missense_Mutation | rs750489592 | c.1289G>A | p.Arg430His | p.R430H | Q9HCS5 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPB41L4A | SNV | Missense_Mutation | | c.129C>G | p.Asp43Glu | p.D43E | Q9HCS5 | protein_coding | tolerated(0.07) | benign(0.009) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |