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/OXA1L_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/OXA1L_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/OXA1L_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/OXA1L_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/OXA1L_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/OXA1L_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/OXA1L_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:003298119 | Oral cavity | LP | mitochondrial respiratory chain complex I assembly | 41/4623 | 57/18723 | 7.93e-14 | 7.89e-12 | 41 |
GO:000700617 | Oral cavity | LP | mitochondrial membrane organization | 61/4623 | 116/18723 | 9.44e-11 | 5.63e-09 | 61 |
GO:005120514 | Oral cavity | LP | protein insertion into membrane | 35/4623 | 57/18723 | 4.38e-09 | 1.86e-07 | 35 |
GO:001700412 | Oral cavity | LP | cytochrome complex assembly | 25/4623 | 36/18723 | 1.93e-08 | 7.11e-07 | 25 |
GO:003361711 | Oral cavity | LP | mitochondrial cytochrome c oxidase assembly | 17/4623 | 22/18723 | 3.24e-07 | 9.53e-06 | 17 |
GO:009015116 | Oral cavity | LP | establishment of protein localization to mitochondrial membrane | 20/4623 | 30/18723 | 1.44e-06 | 3.48e-05 | 20 |
GO:000853511 | Oral cavity | LP | respiratory chain complex IV assembly | 18/4623 | 26/18723 | 2.13e-06 | 4.81e-05 | 18 |
GO:00512591 | Oral cavity | LP | protein complex oligomerization | 85/4623 | 238/18723 | 8.81e-05 | 1.11e-03 | 85 |
GO:005126211 | Oral cavity | LP | protein tetramerization | 35/4623 | 87/18723 | 9.81e-04 | 8.28e-03 | 35 |
GO:005134619 | Oral cavity | LP | negative regulation of hydrolase activity | 120/4623 | 379/18723 | 1.16e-03 | 9.48e-03 | 120 |
GO:007259427 | Skin | cSCC | establishment of protein localization to organelle | 213/4864 | 422/18723 | 1.40e-27 | 5.15e-25 | 213 |
GO:0009060111 | Skin | cSCC | aerobic respiration | 118/4864 | 189/18723 | 3.71e-26 | 1.22e-23 | 118 |
GO:0045333111 | Skin | cSCC | cellular respiration | 131/4864 | 230/18723 | 1.57e-23 | 3.39e-21 | 131 |
GO:0006091111 | Skin | cSCC | generation of precursor metabolites and energy | 224/4864 | 490/18723 | 1.13e-21 | 2.21e-19 | 224 |
GO:001598026 | Skin | cSCC | energy derivation by oxidation of organic compounds | 154/4864 | 318/18723 | 4.19e-18 | 5.15e-16 | 154 |
GO:003310824 | Skin | cSCC | mitochondrial respiratory chain complex assembly | 64/4864 | 93/18723 | 5.48e-18 | 6.58e-16 | 64 |
GO:000683927 | Skin | cSCC | mitochondrial transport | 124/4864 | 254/18723 | 3.54e-15 | 2.81e-13 | 124 |
GO:007058525 | Skin | cSCC | protein localization to mitochondrion | 74/4864 | 125/18723 | 3.95e-15 | 3.06e-13 | 74 |
GO:007265525 | Skin | cSCC | establishment of protein localization to mitochondrion | 71/4864 | 120/18723 | 1.48e-14 | 1.04e-12 | 71 |
GO:001025724 | Skin | cSCC | NADH dehydrogenase complex assembly | 42/4864 | 57/18723 | 6.46e-14 | 4.09e-12 | 42 |
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 |
OXA1L | insertion | In_Frame_Ins | novel | c.614_615insCTTTTACACGCTCAGGTCCACAGCGTCGCAGGGCCCTCGCAA | p.Ala205_Ala206insPheTyrThrLeuArgSerThrAlaSerGlnGlyProArgAsn | p.A205_A206insFYTLRSTASQGPRN | | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
OXA1L | insertion | Frame_Shift_Ins | novel | c.560_561insGCAAGTCCTCTTCCGGGCAAAATGGCGATGGGAC | p.Asn187LysfsTer20 | p.N187Kfs*20 | | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
OXA1L | SNV | Missense_Mutation | novel | c.350N>T | p.Ala117Val | p.A117V | | protein_coding | tolerated(0.22) | benign(0.024) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OXA1L | SNV | Missense_Mutation | | c.46N>T | p.Ala16Ser | p.A16S | | protein_coding | tolerated_low_confidence(0.05) | benign(0.274) | TCGA-EX-A69L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
OXA1L | SNV | Missense_Mutation | | c.56G>C | p.Arg19Pro | p.R19P | | protein_coding | tolerated_low_confidence(0.18) | benign(0) | TCGA-LP-A4AW-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
OXA1L | SNV | Missense_Mutation | | c.46G>T | p.Ala16Ser | p.A16S | | protein_coding | tolerated_low_confidence(0.05) | benign(0.274) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
OXA1L | SNV | Missense_Mutation | rs754585288 | c.1474G>A | p.Asp492Asn | p.D492N | | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.999) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
OXA1L | SNV | Missense_Mutation | | c.1046N>G | p.Asp349Gly | p.D349G | | protein_coding | tolerated(0.11) | possibly_damaging(0.879) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
OXA1L | SNV | Missense_Mutation | rs779321199 | c.1081C>T | p.Pro361Ser | p.P361S | | protein_coding | deleterious(0.04) | probably_damaging(0.944) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
OXA1L | SNV | Missense_Mutation | novel | c.728N>A | p.Ile243Asn | p.I243N | | protein_coding | deleterious(0) | possibly_damaging(0.782) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |