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/NSMAF_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/NSMAF_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/NSMAF_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/NSMAF_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:00066433 | Esophagus | ESCC | membrane lipid metabolic process | 130/8552 | 203/18723 | 9.29e-08 | 1.54e-06 | 130 |
GO:00066652 | Esophagus | ESCC | sphingolipid metabolic process | 96/8552 | 155/18723 | 3.21e-05 | 2.66e-04 | 96 |
GO:00066721 | Esophagus | ESCC | ceramide metabolic process | 61/8552 | 102/18723 | 2.82e-03 | 1.19e-02 | 61 |
GO:00066431 | Liver | HCC | membrane lipid metabolic process | 115/7958 | 203/18723 | 3.17e-05 | 3.22e-04 | 115 |
GO:0006665 | Liver | HCC | sphingolipid metabolic process | 85/7958 | 155/18723 | 1.27e-03 | 6.92e-03 | 85 |
GO:00066432 | Oral cavity | OSCC | membrane lipid metabolic process | 111/7305 | 203/18723 | 4.02e-06 | 4.69e-05 | 111 |
GO:00066651 | Oral cavity | OSCC | sphingolipid metabolic process | 84/7305 | 155/18723 | 8.64e-05 | 6.61e-04 | 84 |
GO:0006672 | Oral cavity | OSCC | ceramide metabolic process | 53/7305 | 102/18723 | 5.28e-03 | 2.06e-02 | 53 |
GO:000664311 | Oral cavity | LP | membrane lipid metabolic process | 69/4623 | 203/18723 | 1.77e-03 | 1.34e-02 | 69 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0407116 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
hsa0407117 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
hsa040718 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
hsa0407111 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
hsa0407114 | Oral cavity | OSCC | Sphingolipid signaling pathway | 82/3704 | 121/8465 | 6.97e-08 | 5.08e-07 | 2.58e-07 | 82 |
hsa0407115 | Oral cavity | OSCC | Sphingolipid signaling pathway | 82/3704 | 121/8465 | 6.97e-08 | 5.08e-07 | 2.58e-07 | 82 |
hsa0407122 | Oral cavity | LP | Sphingolipid signaling pathway | 48/2418 | 121/8465 | 5.30e-03 | 2.15e-02 | 1.39e-02 | 48 |
hsa0407132 | Oral cavity | LP | Sphingolipid signaling pathway | 48/2418 | 121/8465 | 5.30e-03 | 2.15e-02 | 1.39e-02 | 48 |
hsa0407141 | Oral cavity | EOLP | Sphingolipid signaling pathway | 44/1218 | 121/8465 | 1.19e-09 | 3.51e-08 | 2.07e-08 | 44 |
hsa0407151 | Oral cavity | EOLP | Sphingolipid signaling pathway | 44/1218 | 121/8465 | 1.19e-09 | 3.51e-08 | 2.07e-08 | 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 |
NSMAF | SNV | Missense_Mutation | | c.2162C>A | p.Ser721Tyr | p.S721Y | Q92636 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
NSMAF | SNV | Missense_Mutation | novel | c.2130N>T | p.Leu710Phe | p.L710F | Q92636 | protein_coding | tolerated(0.07) | benign(0.017) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NSMAF | SNV | Missense_Mutation | | c.2326N>C | p.Glu776Gln | p.E776Q | Q92636 | protein_coding | tolerated(0.29) | benign(0.309) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NSMAF | SNV | Missense_Mutation | novel | c.1402N>A | p.Asp468Asn | p.D468N | Q92636 | protein_coding | tolerated(0.42) | possibly_damaging(0.757) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NSMAF | SNV | Missense_Mutation | novel | c.2690N>C | p.Gly897Ala | p.G897A | Q92636 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-UU-A93S-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
NSMAF | insertion | In_Frame_Ins | novel | c.1411_1412insACAGATACCTGTTTTTGCTGATGTTGTTTGTTTTCAGCTATAGAC | p.Thr471delinsAsnArgTyrLeuPheLeuLeuMetLeuPheValPheSerTyrArgPro | p.T471delinsNRYLFLLMLFVFSYRP | Q92636 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
NSMAF | insertion | Frame_Shift_Ins | novel | c.1822_1823insGA | p.Thr608ArgfsTer30 | p.T608Rfs*30 | Q92636 | protein_coding | | | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
NSMAF | insertion | Frame_Shift_Ins | novel | c.1820_1821insGGGATTAAACTGTTTTAAGCTGAGT | p.Ile607MetfsTer14 | p.I607Mfs*14 | Q92636 | protein_coding | | | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
NSMAF | insertion | Frame_Shift_Ins | novel | c.1289_1290insCGGCCTCCCAAAGTGCTGGGATTACAGG | p.Phe431GlyfsTer14 | p.F431Gfs*14 | Q92636 | protein_coding | | | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
NSMAF | SNV | Missense_Mutation | | c.377G>C | p.Arg126Thr | p.R126T | Q92636 | protein_coding | tolerated(0.47) | benign(0) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |