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/SPTLC2_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/SPTLC2_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/SPTLC2_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/SPTLC2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/SPTLC2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SPTLC2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/SPTLC2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/SPTLC2_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:001050821 | Oral cavity | EOLP | positive regulation of autophagy | 33/2218 | 124/18723 | 5.07e-06 | 1.03e-04 | 33 |
GO:001623911 | Oral cavity | EOLP | positive regulation of macroautophagy | 20/2218 | 63/18723 | 2.32e-05 | 3.50e-04 | 20 |
GO:006191221 | Oral cavity | EOLP | selective autophagy | 18/2218 | 68/18723 | 7.29e-04 | 5.94e-03 | 18 |
GO:000989633 | Oral cavity | NEOLP | positive regulation of catabolic process | 111/2005 | 492/18723 | 1.19e-14 | 4.72e-12 | 111 |
GO:003133133 | Oral cavity | NEOLP | positive regulation of cellular catabolic process | 97/2005 | 427/18723 | 3.77e-13 | 1.07e-10 | 97 |
GO:001050631 | Oral cavity | NEOLP | regulation of autophagy | 60/2005 | 317/18723 | 8.06e-06 | 1.57e-04 | 60 |
GO:006191231 | Oral cavity | NEOLP | selective autophagy | 20/2005 | 68/18723 | 1.84e-05 | 3.09e-04 | 20 |
GO:001623631 | Oral cavity | NEOLP | macroautophagy | 54/2005 | 291/18723 | 3.95e-05 | 5.62e-04 | 54 |
GO:00614482 | Oral cavity | NEOLP | connective tissue development | 46/2005 | 252/18723 | 2.11e-04 | 2.25e-03 | 46 |
GO:001623921 | Oral cavity | NEOLP | positive regulation of macroautophagy | 17/2005 | 63/18723 | 2.45e-04 | 2.54e-03 | 17 |
GO:001050831 | Oral cavity | NEOLP | positive regulation of autophagy | 26/2005 | 124/18723 | 5.88e-04 | 5.08e-03 | 26 |
GO:001624131 | Oral cavity | NEOLP | regulation of macroautophagy | 28/2005 | 141/18723 | 9.15e-04 | 7.13e-03 | 28 |
GO:000989618 | Prostate | BPH | positive regulation of catabolic process | 156/3107 | 492/18723 | 4.50e-17 | 1.11e-14 | 156 |
GO:003133118 | Prostate | BPH | positive regulation of cellular catabolic process | 135/3107 | 427/18723 | 7.82e-15 | 1.05e-12 | 135 |
GO:00162369 | Prostate | BPH | macroautophagy | 85/3107 | 291/18723 | 4.68e-08 | 1.29e-06 | 85 |
GO:00105069 | Prostate | BPH | regulation of autophagy | 86/3107 | 317/18723 | 1.29e-06 | 2.24e-05 | 86 |
GO:00105086 | Prostate | BPH | positive regulation of autophagy | 39/3107 | 124/18723 | 3.17e-05 | 3.60e-04 | 39 |
GO:00619126 | Prostate | BPH | selective autophagy | 24/3107 | 68/18723 | 1.43e-04 | 1.27e-03 | 24 |
GO:00162416 | Prostate | BPH | regulation of macroautophagy | 40/3107 | 141/18723 | 3.09e-04 | 2.37e-03 | 40 |
GO:00162392 | Prostate | BPH | positive regulation of macroautophagy | 19/3107 | 63/18723 | 5.36e-03 | 2.49e-02 | 19 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04071 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
hsa040711 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
hsa040714 | Colorectum | FAP | Sphingolipid signaling pathway | 34/1404 | 121/8465 | 9.53e-04 | 5.22e-03 | 3.17e-03 | 34 |
hsa040715 | Colorectum | FAP | Sphingolipid signaling pathway | 34/1404 | 121/8465 | 9.53e-04 | 5.22e-03 | 3.17e-03 | 34 |
hsa040716 | Colorectum | CRC | Sphingolipid signaling pathway | 30/1091 | 121/8465 | 2.49e-04 | 3.09e-03 | 2.09e-03 | 30 |
hsa040717 | Colorectum | CRC | Sphingolipid signaling pathway | 30/1091 | 121/8465 | 2.49e-04 | 3.09e-03 | 2.09e-03 | 30 |
hsa0407116 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
hsa006003 | Esophagus | ESCC | Sphingolipid metabolism | 36/4205 | 53/8465 | 5.41e-03 | 1.36e-02 | 6.99e-03 | 36 |
hsa0407117 | Esophagus | ESCC | Sphingolipid signaling pathway | 85/4205 | 121/8465 | 3.04e-06 | 1.73e-05 | 8.84e-06 | 85 |
hsa0060012 | Esophagus | ESCC | Sphingolipid metabolism | 36/4205 | 53/8465 | 5.41e-03 | 1.36e-02 | 6.99e-03 | 36 |
hsa040718 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
hsa00600 | Liver | HCC | Sphingolipid metabolism | 34/4020 | 53/8465 | 1.06e-02 | 2.71e-02 | 1.51e-02 | 34 |
hsa0407111 | Liver | HCC | Sphingolipid signaling pathway | 72/4020 | 121/8465 | 5.01e-03 | 1.47e-02 | 8.18e-03 | 72 |
hsa006001 | Liver | HCC | Sphingolipid metabolism | 34/4020 | 53/8465 | 1.06e-02 | 2.71e-02 | 1.51e-02 | 34 |
hsa040719 | Lung | IAC | Sphingolipid signaling pathway | 28/1053 | 121/8465 | 7.30e-04 | 6.08e-03 | 4.04e-03 | 28 |
hsa0407112 | Lung | IAC | Sphingolipid signaling pathway | 28/1053 | 121/8465 | 7.30e-04 | 6.08e-03 | 4.04e-03 | 28 |
hsa0407114 | Oral cavity | OSCC | Sphingolipid signaling pathway | 82/3704 | 121/8465 | 6.97e-08 | 5.08e-07 | 2.58e-07 | 82 |
hsa006002 | Oral cavity | OSCC | Sphingolipid metabolism | 33/3704 | 53/8465 | 5.00e-03 | 1.20e-02 | 6.13e-03 | 33 |
hsa0407115 | Oral cavity | OSCC | Sphingolipid signaling pathway | 82/3704 | 121/8465 | 6.97e-08 | 5.08e-07 | 2.58e-07 | 82 |
hsa0060011 | Oral cavity | OSCC | Sphingolipid metabolism | 33/3704 | 53/8465 | 5.00e-03 | 1.20e-02 | 6.13e-03 | 33 |
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 |
SPTLC2 | SNV | Missense_Mutation | novel | c.637N>A | p.Leu213Met | p.L213M | O15270 | protein_coding | tolerated(0.11) | benign(0.213) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPTLC2 | SNV | Missense_Mutation | | c.1627N>T | p.Arg543Trp | p.R543W | O15270 | protein_coding | deleterious(0) | possibly_damaging(0.634) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTLC2 | SNV | Missense_Mutation | novel | c.841A>G | p.Lys281Glu | p.K281E | O15270 | protein_coding | deleterious(0.03) | possibly_damaging(0.479) | TCGA-AR-A5QQ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
SPTLC2 | SNV | Missense_Mutation | | c.509N>G | p.Val170Gly | p.V170G | O15270 | protein_coding | deleterious(0) | possibly_damaging(0.71) | TCGA-BH-A0DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
SPTLC2 | SNV | Missense_Mutation | | c.1363N>C | p.Glu455Gln | p.E455Q | O15270 | protein_coding | tolerated(0.5) | benign(0.129) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
SPTLC2 | SNV | Missense_Mutation | | c.1588G>A | p.Glu530Lys | p.E530K | O15270 | protein_coding | tolerated(0.12) | benign(0.077) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTLC2 | SNV | Missense_Mutation | novel | c.1489N>A | p.Gly497Arg | p.G497R | O15270 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SPTLC2 | SNV | Missense_Mutation | rs763898397 | c.1628N>A | p.Arg543Gln | p.R543Q | O15270 | protein_coding | deleterious(0.04) | benign(0.086) | TCGA-C5-A1BM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTLC2 | deletion | Frame_Shift_Del | novel | c.395_407delACAACTGGAATCG | p.Asp132GlyfsTer31 | p.D132Gfs*31 | O15270 | protein_coding | | | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SPTLC2 | SNV | Missense_Mutation | | c.331T>G | p.Phe111Val | p.F111V | O15270 | protein_coding | deleterious(0) | probably_damaging(0.945) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |