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/NSDHL_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/NSDHL_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/NSDHL_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/NSDHL_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:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0001890110 | Esophagus | ESCC | placenta development | 98/8552 | 144/18723 | 4.46e-08 | 8.11e-07 | 98 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:000189219 | Esophagus | ESCC | embryonic placenta development | 57/8552 | 82/18723 | 1.06e-05 | 1.01e-04 | 57 |
GO:00161263 | Esophagus | ESCC | sterol biosynthetic process | 46/8552 | 64/18723 | 1.91e-05 | 1.67e-04 | 46 |
GO:00066953 | Esophagus | ESCC | cholesterol biosynthetic process | 41/8552 | 57/18723 | 5.25e-05 | 4.06e-04 | 41 |
GO:19026533 | Esophagus | ESCC | secondary alcohol biosynthetic process | 41/8552 | 57/18723 | 5.25e-05 | 4.06e-04 | 41 |
GO:19026524 | Esophagus | ESCC | secondary alcohol metabolic process | 87/8552 | 147/18723 | 6.58e-04 | 3.50e-03 | 87 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00461653 | Esophagus | ESCC | alcohol biosynthetic process | 83/8552 | 140/18723 | 8.04e-04 | 4.16e-03 | 83 |
GO:00224043 | Esophagus | ESCC | molting cycle process | 53/8552 | 84/18723 | 9.62e-04 | 4.88e-03 | 53 |
GO:00224053 | Esophagus | ESCC | hair cycle process | 53/8552 | 84/18723 | 9.62e-04 | 4.88e-03 | 53 |
GO:0001942 | Esophagus | ESCC | hair follicle development | 51/8552 | 81/18723 | 1.27e-03 | 6.14e-03 | 51 |
GO:0098773 | Esophagus | ESCC | skin epidermis development | 53/8552 | 85/18723 | 1.43e-03 | 6.77e-03 | 53 |
GO:00607119 | Esophagus | ESCC | labyrinthine layer development | 30/8552 | 44/18723 | 2.14e-03 | 9.54e-03 | 30 |
GO:00423033 | Esophagus | ESCC | molting cycle | 64/8552 | 107/18723 | 2.24e-03 | 9.85e-03 | 64 |
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 |
NSDHL | SNV | Missense_Mutation | | c.130N>A | p.Gly44Ser | p.G44S | Q15738 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0WA-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NSDHL | SNV | Missense_Mutation | rs782205394 | c.29N>A | p.Arg10Lys | p.R10K | Q15738 | protein_coding | tolerated_low_confidence(0.82) | benign(0) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
NSDHL | SNV | Missense_Mutation | rs781879080 | c.263N>A | p.Arg88Gln | p.R88Q | Q15738 | protein_coding | tolerated(0.43) | benign(0) | TCGA-OL-A5S0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxol | CR |
NSDHL | insertion | Frame_Shift_Ins | novel | c.826_827insATTTACAGCAGTTGCAAGCGTGCAGACAGGAATCA | p.Trp276TyrfsTer20 | p.W276Yfs*20 | Q15738 | protein_coding | | | TCGA-A8-A09D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
NSDHL | insertion | Nonsense_Mutation | novel | c.365_366insAAT | p.Tyr122delinsTer | p.Y122delins* | Q15738 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
NSDHL | insertion | In_Frame_Ins | novel | c.367_368insAACAGACCTGTTTTAAAAATCCCTTTCAGG | p.Ile123delinsLysGlnThrCysPheLysAsnProPheGlnVal | p.I123delinsKQTCFKNPFQV | Q15738 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
NSDHL | insertion | Frame_Shift_Ins | novel | c.307dupC | p.His103ProfsTer10 | p.H103Pfs*10 | Q15738 | protein_coding | | | TCGA-D8-A1JF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
NSDHL | SNV | Missense_Mutation | novel | c.274N>C | p.Tyr92His | p.Y92H | Q15738 | protein_coding | tolerated(0.14) | possibly_damaging(0.744) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NSDHL | SNV | Missense_Mutation | | c.202N>C | p.Asp68His | p.D68H | Q15738 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-C5-A2LS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NSDHL | SNV | Missense_Mutation | novel | c.616C>G | p.Pro206Ala | p.P206A | Q15738 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |