Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/NBL1_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | ![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/Cervix/NBL1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/NBL1_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/NBL1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/NBL1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/NBL1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/NBL1_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/NBL1_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/NBL1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/NBL1_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/NBL1_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:000268317 | Skin | AK | negative regulation of immune system process | 67/1910 | 434/18723 | 3.74e-04 | 3.63e-03 | 67 |
GO:009752915 | Skin | AK | myeloid leukocyte migration | 39/1910 | 220/18723 | 4.30e-04 | 4.05e-03 | 39 |
GO:20001467 | Skin | AK | negative regulation of cell motility | 57/1910 | 359/18723 | 4.91e-04 | 4.55e-03 | 57 |
GO:00716748 | Skin | AK | mononuclear cell migration | 35/1910 | 196/18723 | 7.20e-04 | 6.10e-03 | 35 |
GO:00717725 | Skin | AK | response to BMP | 30/1910 | 165/18723 | 1.24e-03 | 9.40e-03 | 30 |
GO:00717735 | Skin | AK | cellular response to BMP stimulus | 30/1910 | 165/18723 | 1.24e-03 | 9.40e-03 | 30 |
GO:00305102 | Skin | AK | regulation of BMP signaling pathway | 20/1910 | 96/18723 | 1.46e-03 | 1.06e-02 | 20 |
GO:00303367 | Skin | AK | negative regulation of cell migration | 53/1910 | 344/18723 | 1.52e-03 | 1.10e-02 | 53 |
GO:00321024 | Skin | AK | negative regulation of response to external stimulus | 61/1910 | 420/18723 | 2.96e-03 | 1.87e-02 | 61 |
GO:00305094 | Skin | AK | BMP signaling pathway | 27/1910 | 152/18723 | 2.97e-03 | 1.87e-02 | 27 |
GO:0008380112 | Skin | cSCC | RNA splicing | 263/4864 | 434/18723 | 2.45e-53 | 5.13e-50 | 263 |
GO:0045185112 | Skin | cSCC | maintenance of protein location | 49/4864 | 94/18723 | 5.46e-08 | 1.40e-06 | 49 |
GO:0051495110 | Skin | cSCC | positive regulation of cytoskeleton organization | 86/4864 | 226/18723 | 4.08e-05 | 4.34e-04 | 86 |
GO:005123527 | Skin | cSCC | maintenance of location | 106/4864 | 327/18723 | 5.17e-03 | 2.61e-02 | 106 |
GO:0051235 | Stomach | GC | maintenance of location | 41/1159 | 327/18723 | 1.33e-05 | 4.35e-04 | 41 |
GO:0030595 | Stomach | GC | leukocyte chemotaxis | 32/1159 | 230/18723 | 1.45e-05 | 4.68e-04 | 32 |
GO:0050900 | Stomach | GC | leukocyte migration | 44/1159 | 369/18723 | 2.30e-05 | 6.81e-04 | 44 |
GO:00716925 | Stomach | GC | protein localization to extracellular region | 43/1159 | 368/18723 | 4.61e-05 | 1.11e-03 | 43 |
GO:0097529 | Stomach | GC | myeloid leukocyte migration | 29/1159 | 220/18723 | 9.69e-05 | 1.97e-03 | 29 |
GO:0002685 | Stomach | GC | regulation of leukocyte migration | 28/1159 | 210/18723 | 1.04e-04 | 2.05e-03 | 28 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04350 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
hsa043501 | Colorectum | SER | TGF-beta signaling pathway | 31/1580 | 108/8465 | 7.00e-03 | 3.77e-02 | 2.74e-02 | 31 |
hsa043504 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa0435011 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa043502 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa043503 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa043506 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0435013 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa043505 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435012 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435021 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
hsa0435031 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
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 |
NBL1 | SNV | Missense_Mutation | | c.67N>A | p.Gly23Ser | p.G23S | P41271 | protein_coding | tolerated_low_confidence(0.34) | benign(0) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NBL1 | SNV | Missense_Mutation | novel | c.556N>T | p.His186Tyr | p.H186Y | P41271 | protein_coding | tolerated_low_confidence(0.26) | possibly_damaging(0.782) | TCGA-E9-A1R4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
NBL1 | SNV | Missense_Mutation | rs765257995 | c.211N>A | p.Glu71Lys | p.E71K | P41271 | protein_coding | tolerated(0.23) | probably_damaging(0.991) | TCGA-EX-A69L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NBL1 | SNV | Missense_Mutation | | c.326N>C | p.Gln109Pro | p.Q109P | P41271 | protein_coding | tolerated(0.08) | probably_damaging(0.991) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NBL1 | SNV | Missense_Mutation | rs750974701 | c.404C>T | p.Pro135Leu | p.P135L | P41271 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-CM-6164-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NBL1 | SNV | Missense_Mutation | rs765257995 | c.211G>A | p.Glu71Lys | p.E71K | P41271 | protein_coding | tolerated(0.23) | probably_damaging(0.991) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NBL1 | SNV | Missense_Mutation | novel | c.336G>T | p.Glu112Asp | p.E112D | P41271 | protein_coding | tolerated(0.38) | probably_damaging(0.986) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
NBL1 | SNV | Missense_Mutation | novel | c.193G>T | p.Asp65Tyr | p.D65Y | P41271 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
NBL1 | SNV | Missense_Mutation | | c.326A>G | p.Gln109Arg | p.Q109R | P41271 | protein_coding | deleterious(0.02) | probably_damaging(0.979) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NBL1 | SNV | Missense_Mutation | novel | c.484N>T | p.Pro162Ser | p.P162S | P41271 | protein_coding | tolerated(0.48) | benign(0.042) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |