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/MFN1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/MFN1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/MFN1_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/MFN1_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:00901742 | Oral cavity | OSCC | organelle membrane fusion | 63/7305 | 110/18723 | 7.75e-05 | 6.01e-04 | 63 |
GO:007252120 | Oral cavity | OSCC | purine-containing compound metabolic process | 199/7305 | 416/18723 | 1.34e-04 | 9.53e-04 | 199 |
GO:000915020 | Oral cavity | OSCC | purine ribonucleotide metabolic process | 178/7305 | 368/18723 | 1.45e-04 | 1.02e-03 | 178 |
GO:000616320 | Oral cavity | OSCC | purine nucleotide metabolic process | 188/7305 | 396/18723 | 3.31e-04 | 2.04e-03 | 188 |
GO:00610253 | Oral cavity | OSCC | membrane fusion | 84/7305 | 163/18723 | 7.56e-04 | 4.12e-03 | 84 |
GO:00080531 | Oral cavity | OSCC | mitochondrial fusion | 18/7305 | 27/18723 | 3.34e-03 | 1.42e-02 | 18 |
GO:000914119 | Oral cavity | OSCC | nucleoside triphosphate metabolic process | 58/7305 | 112/18723 | 4.01e-03 | 1.64e-02 | 58 |
GO:00460392 | Oral cavity | OSCC | GTP metabolic process | 16/7305 | 25/18723 | 1.00e-02 | 3.49e-02 | 16 |
GO:00516462 | Oral cavity | OSCC | mitochondrion localization | 28/7305 | 50/18723 | 1.10e-02 | 3.72e-02 | 28 |
GO:0045838 | Oral cavity | OSCC | positive regulation of membrane potential | 11/7305 | 16/18723 | 1.56e-02 | 4.99e-02 | 11 |
GO:000700617 | Oral cavity | LP | mitochondrial membrane organization | 61/4623 | 116/18723 | 9.44e-11 | 5.63e-09 | 61 |
GO:005188116 | Oral cavity | LP | regulation of mitochondrial membrane potential | 36/4623 | 74/18723 | 6.85e-06 | 1.34e-04 | 36 |
GO:000675319 | Oral cavity | LP | nucleoside phosphate metabolic process | 161/4623 | 497/18723 | 5.31e-05 | 7.39e-04 | 161 |
GO:004828412 | Oral cavity | LP | organelle fusion | 56/4623 | 141/18723 | 5.55e-05 | 7.62e-04 | 56 |
GO:0009117110 | Oral cavity | LP | nucleotide metabolic process | 158/4623 | 489/18723 | 7.17e-05 | 9.49e-04 | 158 |
GO:009017411 | Oral cavity | LP | organelle membrane fusion | 45/4623 | 110/18723 | 1.28e-04 | 1.49e-03 | 45 |
GO:0019693110 | Oral cavity | LP | ribose phosphate metabolic process | 128/4623 | 396/18723 | 3.26e-04 | 3.28e-03 | 128 |
GO:00610251 | Oral cavity | LP | membrane fusion | 58/4623 | 163/18723 | 1.19e-03 | 9.62e-03 | 58 |
GO:0072521110 | Oral cavity | LP | purine-containing compound metabolic process | 130/4623 | 416/18723 | 1.30e-03 | 1.05e-02 | 130 |
GO:0009259110 | Oral cavity | LP | ribonucleotide metabolic process | 120/4623 | 385/18723 | 2.15e-03 | 1.57e-02 | 120 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501220 | Cervix | CC | Parkinson disease | 102/1267 | 266/8465 | 1.81e-21 | 1.47e-19 | 8.66e-20 | 102 |
hsa0502218 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa0413718 | Cervix | CC | Mitophagy - animal | 22/1267 | 72/8465 | 5.77e-04 | 2.75e-03 | 1.63e-03 | 22 |
hsa046213 | Cervix | CC | NOD-like receptor signaling pathway | 41/1267 | 186/8465 | 5.90e-03 | 1.95e-02 | 1.15e-02 | 41 |
hsa05012110 | Cervix | CC | Parkinson disease | 102/1267 | 266/8465 | 1.81e-21 | 1.47e-19 | 8.66e-20 | 102 |
hsa0502219 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa0413719 | Cervix | CC | Mitophagy - animal | 22/1267 | 72/8465 | 5.77e-04 | 2.75e-03 | 1.63e-03 | 22 |
hsa0462112 | Cervix | CC | NOD-like receptor signaling pathway | 41/1267 | 186/8465 | 5.90e-03 | 1.95e-02 | 1.15e-02 | 41 |
hsa05012211 | Esophagus | ESCC | Parkinson disease | 201/4205 | 266/8465 | 1.56e-18 | 8.72e-17 | 4.46e-17 | 201 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa04137210 | Esophagus | ESCC | Mitophagy - animal | 54/4205 | 72/8465 | 9.33e-06 | 4.96e-05 | 2.54e-05 | 54 |
hsa0462122 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
hsa05012310 | Esophagus | ESCC | Parkinson disease | 201/4205 | 266/8465 | 1.56e-18 | 8.72e-17 | 4.46e-17 | 201 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0413738 | Esophagus | ESCC | Mitophagy - animal | 54/4205 | 72/8465 | 9.33e-06 | 4.96e-05 | 2.54e-05 | 54 |
hsa0462132 | Esophagus | ESCC | NOD-like receptor signaling pathway | 116/4205 | 186/8465 | 2.90e-04 | 1.03e-03 | 5.30e-04 | 116 |
hsa0501230 | Oral cavity | OSCC | Parkinson disease | 188/3704 | 266/8465 | 1.82e-19 | 1.52e-17 | 7.75e-18 | 188 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa0413728 | Oral cavity | OSCC | Mitophagy - animal | 58/3704 | 72/8465 | 1.48e-10 | 2.07e-09 | 1.05e-09 | 58 |
hsa046218 | Oral cavity | OSCC | NOD-like receptor signaling pathway | 108/3704 | 186/8465 | 5.13e-05 | 2.07e-04 | 1.05e-04 | 108 |
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 |
MFN1 | SNV | Missense_Mutation | | c.17N>G | p.Ser6Cys | p.S6C | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MFN1 | SNV | Missense_Mutation | rs748861127 | c.128N>T | p.Pro43Leu | p.P43L | | protein_coding | tolerated(0.08) | benign(0.039) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MFN1 | SNV | Missense_Mutation | | c.1132N>C | p.Asp378His | p.D378H | | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MFN1 | SNV | Missense_Mutation | rs774808113 | c.644N>T | p.Thr215Met | p.T215M | | protein_coding | deleterious(0) | benign(0.392) | TCGA-UU-A93S-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
MFN1 | insertion | Frame_Shift_Ins | novel | c.899_900insGACTGGGTTTCACCATATTGCCCAGGCTGGTCTTG | p.Glu301ThrfsTer45 | p.E301Tfs*45 | | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFN1 | deletion | Frame_Shift_Del | novel | c.1955delN | p.Lys653AsnfsTer2 | p.K653Nfs*2 | | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MFN1 | SNV | Missense_Mutation | novel | c.1863N>T | p.Met621Ile | p.M621I | | protein_coding | tolerated(0.37) | benign(0.005) | TCGA-VS-A8QH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | gemcitabine | PD |
MFN1 | SNV | Missense_Mutation | novel | c.639G>C | p.Met213Ile | p.M213I | | protein_coding | deleterious(0.02) | benign(0.043) | TCGA-VS-A9UL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
MFN1 | SNV | Missense_Mutation | | c.845N>C | p.Phe282Ser | p.F282S | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MFN1 | SNV | Missense_Mutation | | c.82N>C | p.Phe28Leu | p.F28L | | protein_coding | deleterious(0) | benign(0.197) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |