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/SNAPIN_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/SNAPIN_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/SNAPIN_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/SNAPIN_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:00995182 | Liver | HCC | vesicle cytoskeletal trafficking | 46/7958 | 73/18723 | 3.23e-04 | 2.28e-03 | 46 |
GO:0034629 | Liver | HCC | cellular protein-containing complex localization | 17/7958 | 22/18723 | 9.84e-04 | 5.70e-03 | 17 |
GO:00901741 | Liver | HCC | organelle membrane fusion | 63/7958 | 110/18723 | 1.24e-03 | 6.85e-03 | 63 |
GO:00069061 | Liver | HCC | vesicle fusion | 61/7958 | 106/18723 | 1.25e-03 | 6.90e-03 | 61 |
GO:00083331 | Liver | HCC | endosome to lysosome transport | 35/7958 | 55/18723 | 1.26e-03 | 6.92e-03 | 35 |
GO:00070351 | Liver | HCC | vacuolar acidification | 18/7958 | 24/18723 | 1.27e-03 | 6.92e-03 | 18 |
GO:001097511 | Liver | HCC | regulation of neuron projection development | 220/7958 | 445/18723 | 1.68e-03 | 8.78e-03 | 220 |
GO:0008089 | Liver | HCC | anterograde axonal transport | 32/7958 | 50/18723 | 1.76e-03 | 9.12e-03 | 32 |
GO:0061025 | Liver | HCC | membrane fusion | 88/7958 | 163/18723 | 1.98e-03 | 1.00e-02 | 88 |
GO:0048489 | Liver | HCC | synaptic vesicle transport | 27/7958 | 42/18723 | 3.60e-03 | 1.60e-02 | 27 |
GO:0048490 | Liver | HCC | anterograde synaptic vesicle transport | 14/7958 | 19/18723 | 5.94e-03 | 2.44e-02 | 14 |
GO:0099514 | Liver | HCC | synaptic vesicle cytoskeletal transport | 14/7958 | 19/18723 | 5.94e-03 | 2.44e-02 | 14 |
GO:0099517 | Liver | HCC | synaptic vesicle transport along microtubule | 14/7958 | 19/18723 | 5.94e-03 | 2.44e-02 | 14 |
GO:00070421 | Liver | HCC | lysosomal lumen acidification | 9/7958 | 11/18723 | 9.51e-03 | 3.60e-02 | 9 |
GO:002241119 | Oral cavity | OSCC | cellular component disassembly | 283/7305 | 443/18723 | 9.57e-27 | 3.37e-24 | 283 |
GO:001623610 | Oral cavity | OSCC | macroautophagy | 192/7305 | 291/18723 | 7.01e-21 | 1.14e-18 | 192 |
GO:005165610 | Oral cavity | OSCC | establishment of organelle localization | 239/7305 | 390/18723 | 2.46e-19 | 3.31e-17 | 239 |
GO:00160508 | Oral cavity | OSCC | vesicle organization | 189/7305 | 300/18723 | 2.40e-17 | 2.14e-15 | 189 |
GO:005109820 | Oral cavity | OSCC | regulation of binding | 212/7305 | 363/18723 | 3.88e-14 | 2.15e-12 | 212 |
GO:00070335 | Oral cavity | OSCC | vacuole organization | 115/7305 | 180/18723 | 1.11e-11 | 4.00e-10 | 115 |
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 |
SNAPIN | SNV | Missense_Mutation | novel | c.242N>G | p.Tyr81Cys | p.Y81C | O95295 | protein_coding | deleterious(0) | probably_damaging(0.923) | TCGA-B6-A0IB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
SNAPIN | SNV | Missense_Mutation | novel | c.365N>T | p.Ala122Val | p.A122V | O95295 | protein_coding | tolerated(0.09) | benign(0.375) | TCGA-PE-A5DC-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SNAPIN | insertion | Frame_Shift_Ins | novel | c.252_253insTT | p.Leu85PhefsTer23 | p.L85Ffs*23 | O95295 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SNAPIN | insertion | In_Frame_Ins | novel | c.254_255insGGCTGGGAGTGGGCATAAATTTAGGAAACTGATTCG | p.Leu85_Leu86insAlaGlySerGlyHisLysPheArgLysLeuIleArg | p.L85_L86insAGSGHKFRKLIR | O95295 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SNAPIN | insertion | Frame_Shift_Ins | novel | c.386_387insC | p.Gly132TrpfsTer32 | p.G132Wfs*32 | O95295 | protein_coding | | | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SNAPIN | insertion | Frame_Shift_Ins | novel | c.316_317insT | p.Arg107GlufsTer57 | p.R107Efs*57 | O95295 | protein_coding | | | TCGA-AG-A015-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
SNAPIN | SNV | Missense_Mutation | | c.290A>G | p.Asn97Ser | p.N97S | O95295 | protein_coding | tolerated(0.08) | benign(0.162) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SNAPIN | SNV | Missense_Mutation | | c.314G>A | p.Arg105Gln | p.R105Q | O95295 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SNAPIN | SNV | Missense_Mutation | rs759411679 | c.256N>T | p.Leu86Phe | p.L86F | O95295 | protein_coding | tolerated(0.16) | benign(0.017) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SNAPIN | deletion | Frame_Shift_Del | novel | c.387delN | p.Pro131LeufsTer9 | p.P131Lfs*9 | O95295 | protein_coding | | | TCGA-A5-A7WJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |