Tissue | Expression Dynamics | Abbreviation |
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/ABCD4_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/ABCD4_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/ABCD4_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/ABCD4_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:00723296 | Oral cavity | OSCC | monocarboxylic acid catabolic process | 66/7305 | 122/18723 | 5.02e-04 | 2.95e-03 | 66 |
GO:00193957 | Oral cavity | OSCC | fatty acid oxidation | 57/7305 | 103/18723 | 5.58e-04 | 3.23e-03 | 57 |
GO:00344406 | Oral cavity | OSCC | lipid oxidation | 59/7305 | 108/18723 | 7.01e-04 | 3.89e-03 | 59 |
GO:0043574 | Oral cavity | OSCC | peroxisomal transport | 16/7305 | 22/18723 | 1.40e-03 | 6.79e-03 | 16 |
GO:00066357 | Oral cavity | OSCC | fatty acid beta-oxidation | 42/7305 | 74/18723 | 1.47e-03 | 7.09e-03 | 42 |
GO:00070312 | Oral cavity | OSCC | peroxisome organization | 23/7305 | 36/18723 | 2.19e-03 | 9.95e-03 | 23 |
GO:00442826 | Oral cavity | OSCC | small molecule catabolic process | 174/7305 | 376/18723 | 2.25e-03 | 1.00e-02 | 174 |
GO:00442426 | Oral cavity | OSCC | cellular lipid catabolic process | 104/7305 | 214/18723 | 2.61e-03 | 1.15e-02 | 104 |
GO:0015919 | Oral cavity | OSCC | peroxisomal membrane transport | 14/7305 | 20/18723 | 4.95e-03 | 1.94e-02 | 14 |
GO:00070311 | Oral cavity | LP | peroxisome organization | 17/4623 | 36/18723 | 2.74e-03 | 1.92e-02 | 17 |
GO:004424213 | Oral cavity | LP | cellular lipid catabolic process | 70/4623 | 214/18723 | 4.82e-03 | 3.05e-02 | 70 |
GO:000663513 | Oral cavity | LP | fatty acid beta-oxidation | 28/4623 | 74/18723 | 8.17e-03 | 4.44e-02 | 28 |
GO:00435741 | Oral cavity | LP | peroxisomal transport | 11/4623 | 22/18723 | 9.01e-03 | 4.83e-02 | 11 |
GO:199082317 | Skin | cSCC | response to leukemia inhibitory factor | 42/4864 | 95/18723 | 8.79e-05 | 8.27e-04 | 42 |
GO:199083016 | Skin | cSCC | cellular response to leukemia inhibitory factor | 41/4864 | 94/18723 | 1.53e-04 | 1.35e-03 | 41 |
GO:00066359 | Skin | cSCC | fatty acid beta-oxidation | 30/4864 | 74/18723 | 4.32e-03 | 2.27e-02 | 30 |
GO:00067672 | Skin | cSCC | water-soluble vitamin metabolic process | 24/4864 | 59/18723 | 9.59e-03 | 4.30e-02 | 24 |
GO:199082310 | Thyroid | PTC | response to leukemia inhibitory factor | 42/5968 | 95/18723 | 7.69e-03 | 3.27e-02 | 42 |
GO:199083010 | Thyroid | PTC | cellular response to leukemia inhibitory factor | 41/5968 | 94/18723 | 1.10e-02 | 4.38e-02 | 41 |
GO:199082318 | Thyroid | ATC | response to leukemia inhibitory factor | 44/6293 | 95/18723 | 6.74e-03 | 2.68e-02 | 44 |
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 |
ABCD4 | SNV | Missense_Mutation | rs570985200 | c.284N>G | p.Thr95Arg | p.T95R | O14678 | protein_coding | tolerated(0.05) | benign(0.325) | TCGA-AQ-A54N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCD4 | insertion | Frame_Shift_Ins | novel | c.1400_1401insGT | p.Asp467GlufsTer9 | p.D467Efs*9 | O14678 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ABCD4 | deletion | Frame_Shift_Del | novel | c.1397_1398delNN | p.Thr466ArgfsTer24 | p.T466Rfs*24 | O14678 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ABCD4 | insertion | In_Frame_Ins | novel | c.252_253insTTTTGTCCTTTTCATACTTTATATCTTAGTCTT | p.Phe84_Leu85insPheCysProPheHisThrLeuTyrLeuSerLeu | p.F84_L85insFCPFHTLYLSL | O14678 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ABCD4 | SNV | Missense_Mutation | novel | c.698N>T | p.Ala233Val | p.A233V | O14678 | protein_coding | tolerated(0.05) | possibly_damaging(0.899) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ABCD4 | SNV | Missense_Mutation | | c.1414N>A | p.Glu472Lys | p.E472K | O14678 | protein_coding | deleterious(0) | possibly_damaging(0.672) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
ABCD4 | SNV | Missense_Mutation | novel | c.459N>A | p.Phe153Leu | p.F153L | O14678 | protein_coding | tolerated(0.6) | benign(0.019) | TCGA-DS-A0VN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
ABCD4 | SNV | Missense_Mutation | | c.1747N>C | p.Glu583Gln | p.E583Q | O14678 | protein_coding | tolerated(0.4) | benign(0.003) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ABCD4 | SNV | Missense_Mutation | rs759637495 | c.418G>A | p.Asp140Asn | p.D140N | O14678 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ABCD4 | SNV | Missense_Mutation | novel | c.582C>A | p.Phe194Leu | p.F194L | O14678 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |