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/TFRC_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/TFRC_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/TFRC_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/TFRC_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/TFRC_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/TFRC_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/TFRC_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/TFRC_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000689815 | Endometrium | EEC | receptor-mediated endocytosis | 51/2168 | 244/18723 | 1.89e-05 | 3.50e-04 | 51 |
GO:002240914 | Endometrium | EEC | positive regulation of cell-cell adhesion | 56/2168 | 284/18723 | 4.36e-05 | 7.15e-04 | 56 |
GO:199082313 | Endometrium | EEC | response to leukemia inhibitory factor | 25/2168 | 95/18723 | 5.72e-05 | 8.96e-04 | 25 |
GO:190018013 | Endometrium | EEC | regulation of protein localization to nucleus | 32/2168 | 136/18723 | 6.37e-05 | 9.48e-04 | 32 |
GO:004211014 | Endometrium | EEC | T cell activation | 85/2168 | 487/18723 | 6.81e-05 | 1.01e-03 | 85 |
GO:001063915 | Endometrium | EEC | negative regulation of organelle organization | 64/2168 | 348/18723 | 1.15e-04 | 1.55e-03 | 64 |
GO:199083012 | Endometrium | EEC | cellular response to leukemia inhibitory factor | 24/2168 | 94/18723 | 1.33e-04 | 1.74e-03 | 24 |
GO:000715914 | Endometrium | EEC | leukocyte cell-cell adhesion | 67/2168 | 371/18723 | 1.41e-04 | 1.82e-03 | 67 |
GO:190303913 | Endometrium | EEC | positive regulation of leukocyte cell-cell adhesion | 47/2168 | 239/18723 | 1.84e-04 | 2.26e-03 | 47 |
GO:005086313 | Endometrium | EEC | regulation of T cell activation | 60/2168 | 329/18723 | 2.33e-04 | 2.75e-03 | 60 |
GO:000189415 | Endometrium | EEC | tissue homeostasis | 51/2168 | 268/18723 | 2.34e-04 | 2.75e-03 | 51 |
GO:004311214 | Endometrium | EEC | receptor metabolic process | 35/2168 | 166/18723 | 3.03e-04 | 3.39e-03 | 35 |
GO:005109013 | Endometrium | EEC | regulation of DNA-binding transcription factor activity | 75/2168 | 440/18723 | 3.71e-04 | 3.97e-03 | 75 |
GO:190303713 | Endometrium | EEC | regulation of leukocyte cell-cell adhesion | 60/2168 | 336/18723 | 4.13e-04 | 4.36e-03 | 60 |
GO:003162312 | Endometrium | EEC | receptor internalization | 26/2168 | 113/18723 | 4.32e-04 | 4.50e-03 | 26 |
GO:005087013 | Endometrium | EEC | positive regulation of T cell activation | 42/2168 | 216/18723 | 5.03e-04 | 5.07e-03 | 42 |
GO:006024914 | Endometrium | EEC | anatomical structure homeostasis | 56/2168 | 314/18723 | 6.52e-04 | 6.35e-03 | 56 |
GO:001082115 | Endometrium | EEC | regulation of mitochondrion organization | 30/2168 | 144/18723 | 9.67e-04 | 8.64e-03 | 30 |
GO:003009917 | Endometrium | EEC | myeloid cell differentiation | 64/2168 | 381/18723 | 1.40e-03 | 1.14e-02 | 64 |
GO:005105412 | Endometrium | EEC | positive regulation of DNA metabolic process | 38/2168 | 201/18723 | 1.55e-03 | 1.24e-02 | 38 |
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 |
TFRC | SNV | Missense_Mutation | rs769366579 | c.1511C>T | p.Thr504Met | p.T504M | P02786 | protein_coding | deleterious(0.05) | benign(0.055) | TCGA-AN-A0FZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TFRC | SNV | Missense_Mutation | novel | c.145N>T | p.Asp49Tyr | p.D49Y | P02786 | protein_coding | deleterious(0.01) | possibly_damaging(0.819) | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TFRC | insertion | Frame_Shift_Ins | novel | c.1815_1816insTTCCCCTATAGGGACATTTTCCCCCAAAAGGA | p.Glu606PhefsTer13 | p.E606Ffs*13 | P02786 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TFRC | SNV | Missense_Mutation | rs41298067 | c.2030G>A | p.Arg677His | p.R677H | P02786 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFRC | SNV | Missense_Mutation | novel | c.323T>C | p.Val108Ala | p.V108A | P02786 | protein_coding | tolerated(0.85) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFRC | SNV | Missense_Mutation | novel | c.2249N>T | p.Ser750Phe | p.S750F | P02786 | protein_coding | deleterious(0.02) | possibly_damaging(0.882) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFRC | SNV | Missense_Mutation | rs764730449 | c.2155N>T | p.Arg719Cys | p.R719C | P02786 | protein_coding | tolerated(0.14) | probably_damaging(0.981) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFRC | SNV | Missense_Mutation | novel | c.349N>G | p.Leu117Val | p.L117V | | protein_coding | deleterious_low_confidence(0.02) | unknown(0) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TFRC | SNV | Missense_Mutation | rs370784605 | c.395C>T | p.Ser132Leu | p.S132L | P02786 | protein_coding | deleterious(0.02) | probably_damaging(0.976) | TCGA-VS-A9UL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
TFRC | SNV | Missense_Mutation | rs772641140 | c.362N>A | p.Arg121His | p.R121H | P02786 | protein_coding | tolerated(0.57) | benign(0) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |