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/STXBP5_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/STXBP5_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/STXBP5_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/STXBP5_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/STXBP5_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:00171574 | Cervix | CC | regulation of exocytosis | 39/2311 | 202/18723 | 2.90e-03 | 1.93e-02 | 39 |
GO:00068873 | Cervix | CC | exocytosis | 59/2311 | 352/18723 | 8.74e-03 | 4.48e-02 | 59 |
GO:0043254 | Colorectum | AD | regulation of protein-containing complex assembly | 148/3918 | 428/18723 | 2.64e-11 | 3.18e-09 | 148 |
GO:0050708 | Colorectum | AD | regulation of protein secretion | 83/3918 | 268/18723 | 6.59e-05 | 1.07e-03 | 83 |
GO:0009306 | Colorectum | AD | protein secretion | 105/3918 | 359/18723 | 1.05e-04 | 1.57e-03 | 105 |
GO:0035592 | Colorectum | AD | establishment of protein localization to extracellular region | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
GO:0045921 | Colorectum | AD | positive regulation of exocytosis | 33/3918 | 86/18723 | 1.58e-04 | 2.20e-03 | 33 |
GO:0071692 | Colorectum | AD | protein localization to extracellular region | 106/3918 | 368/18723 | 1.86e-04 | 2.49e-03 | 106 |
GO:0051047 | Colorectum | AD | positive regulation of secretion | 90/3918 | 310/18723 | 4.11e-04 | 4.66e-03 | 90 |
GO:1903532 | Colorectum | AD | positive regulation of secretion by cell | 82/3918 | 282/18723 | 6.85e-04 | 7.00e-03 | 82 |
GO:0006887 | Colorectum | AD | exocytosis | 96/3918 | 352/18723 | 2.48e-03 | 1.90e-02 | 96 |
GO:0017157 | Colorectum | AD | regulation of exocytosis | 59/3918 | 202/18723 | 3.20e-03 | 2.36e-02 | 59 |
GO:0099003 | Colorectum | AD | vesicle-mediated transport in synapse | 57/3918 | 200/18723 | 6.53e-03 | 4.06e-02 | 57 |
GO:00432541 | Colorectum | SER | regulation of protein-containing complex assembly | 119/2897 | 428/18723 | 3.34e-11 | 5.86e-09 | 119 |
GO:00507081 | Colorectum | SER | regulation of protein secretion | 63/2897 | 268/18723 | 3.42e-04 | 5.39e-03 | 63 |
GO:00093061 | Colorectum | SER | protein secretion | 79/2897 | 359/18723 | 5.99e-04 | 8.19e-03 | 79 |
GO:00355921 | Colorectum | SER | establishment of protein localization to extracellular region | 79/2897 | 360/18723 | 6.54e-04 | 8.77e-03 | 79 |
GO:00716921 | Colorectum | SER | protein localization to extracellular region | 80/2897 | 368/18723 | 8.13e-04 | 1.01e-02 | 80 |
GO:00459211 | Colorectum | SER | positive regulation of exocytosis | 25/2897 | 86/18723 | 9.88e-04 | 1.17e-02 | 25 |
GO:00068871 | Colorectum | SER | exocytosis | 75/2897 | 352/18723 | 2.05e-03 | 2.03e-02 | 75 |
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 |
STXBP5 | SNV | Missense_Mutation | | c.2552N>A | p.Ile851Lys | p.I851K | Q5T5C0 | protein_coding | deleterious(0) | benign(0.203) | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
STXBP5 | SNV | Missense_Mutation | rs765718593 | c.488G>A | p.Arg163Gln | p.R163Q | Q5T5C0 | protein_coding | deleterious(0) | possibly_damaging(0.884) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
STXBP5 | SNV | Missense_Mutation | novel | c.1207G>A | p.Glu403Lys | p.E403K | Q5T5C0 | protein_coding | tolerated(0.21) | probably_damaging(0.976) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
STXBP5 | SNV | Missense_Mutation | | c.2146N>C | p.Gly716Arg | p.G716R | Q5T5C0 | protein_coding | tolerated(0.23) | benign(0.031) | TCGA-AN-A0AR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
STXBP5 | SNV | Missense_Mutation | | c.2422N>A | p.Asp808Asn | p.D808N | Q5T5C0 | protein_coding | deleterious(0) | possibly_damaging(0.706) | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
STXBP5 | SNV | Missense_Mutation | | c.326N>G | p.Asn109Ser | p.N109S | Q5T5C0 | protein_coding | deleterious(0) | possibly_damaging(0.864) | TCGA-C8-A134-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
STXBP5 | SNV | Missense_Mutation | novel | c.2173N>A | p.Asp725Asn | p.D725N | Q5T5C0 | protein_coding | tolerated(0.35) | benign(0.003) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
STXBP5 | SNV | Missense_Mutation | | c.3026N>T | p.Ser1009Leu | p.S1009L | Q5T5C0 | protein_coding | deleterious(0) | benign(0.007) | TCGA-LL-A73Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
STXBP5 | deletion | Frame_Shift_Del | novel | c.2402delN | p.Thr802ArgfsTer20 | p.T802Rfs*20 | Q5T5C0 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
STXBP5 | SNV | Missense_Mutation | | c.62N>T | p.Ser21Leu | p.S21L | Q5T5C0 | protein_coding | tolerated(0.08) | benign(0.089) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |