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/STXBP1_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/STXBP1_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/STXBP1_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/STXBP1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:0043254 | Colorectum | AD | regulation of protein-containing complex assembly | 148/3918 | 428/18723 | 2.64e-11 | 3.18e-09 | 148 |
GO:0031647 | Colorectum | AD | regulation of protein stability | 108/3918 | 298/18723 | 6.33e-10 | 5.08e-08 | 108 |
GO:0051656 | Colorectum | AD | establishment of organelle localization | 131/3918 | 390/18723 | 3.00e-09 | 2.06e-07 | 131 |
GO:0050821 | Colorectum | AD | protein stabilization | 73/3918 | 191/18723 | 3.02e-08 | 1.64e-06 | 73 |
GO:0016050 | Colorectum | AD | vesicle organization | 101/3918 | 300/18723 | 1.65e-07 | 7.17e-06 | 101 |
GO:0034109 | Colorectum | AD | homotypic cell-cell adhesion | 40/3918 | 90/18723 | 4.37e-07 | 1.67e-05 | 40 |
GO:0070997 | Colorectum | AD | neuron death | 114/3918 | 361/18723 | 1.13e-06 | 3.72e-05 | 114 |
GO:0042060 | Colorectum | AD | wound healing | 128/3918 | 422/18723 | 2.73e-06 | 7.89e-05 | 128 |
GO:0031333 | Colorectum | AD | negative regulation of protein-containing complex assembly | 52/3918 | 141/18723 | 9.27e-06 | 2.18e-04 | 52 |
GO:1901214 | Colorectum | AD | regulation of neuron death | 99/3918 | 319/18723 | 1.26e-05 | 2.76e-04 | 99 |
GO:0007409 | Colorectum | AD | axonogenesis | 122/3918 | 418/18723 | 3.36e-05 | 6.15e-04 | 122 |
GO:0051402 | Colorectum | AD | neuron apoptotic process | 77/3918 | 246/18723 | 8.07e-05 | 1.28e-03 | 77 |
GO:0061564 | Colorectum | AD | axon development | 132/3918 | 467/18723 | 8.40e-05 | 1.31e-03 | 132 |
GO:1901215 | Colorectum | AD | negative regulation of neuron death | 67/3918 | 208/18723 | 8.81e-05 | 1.35e-03 | 67 |
GO:0045921 | Colorectum | AD | positive regulation of exocytosis | 33/3918 | 86/18723 | 1.58e-04 | 2.20e-03 | 33 |
GO:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
GO:0051047 | Colorectum | AD | positive regulation of secretion | 90/3918 | 310/18723 | 4.11e-04 | 4.66e-03 | 90 |
GO:0070527 | Colorectum | AD | platelet aggregation | 26/3918 | 67/18723 | 6.20e-04 | 6.48e-03 | 26 |
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 |
STXBP1 | SNV | Missense_Mutation | novel | c.605N>A | p.Ala202Asp | p.A202D | P61764 | protein_coding | deleterious(0) | possibly_damaging(0.816) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
STXBP1 | SNV | Missense_Mutation | | c.406G>A | p.Ala136Thr | p.A136T | P61764 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
STXBP1 | SNV | Missense_Mutation | | c.821N>T | p.Ala274Val | p.A274V | P61764 | protein_coding | tolerated(0.23) | benign(0.005) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
STXBP1 | insertion | Frame_Shift_Ins | novel | c.1327_1328insTCATATT | p.Met443IlefsTer51 | p.M443Ifs*51 | P61764 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
STXBP1 | insertion | Nonsense_Mutation | novel | c.1329_1330insTCCGTGCCAGGTTTTTAATTGGTTTCCATTTTT | p.Met443_Ala444insSerValProGlyPheTerLeuValSerIlePhe | p.M443_A444insSVPGF*LVSIF | P61764 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
STXBP1 | insertion | In_Frame_Ins | novel | c.1646_1647insCCTTCTCAT | p.Glu549delinsAspLeuLeuMet | p.E549delinsDLLM | P61764 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
STXBP1 | insertion | In_Frame_Ins | novel | c.1647_1648insGCAGCAGAGGTAAAACGTTTTTTGCCAAAT | p.Glu549_Met550insAlaAlaGluValLysArgPheLeuProAsn | p.E549_M550insAAEVKRFLPN | P61764 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
STXBP1 | SNV | Missense_Mutation | novel | c.278N>G | p.Asp93Gly | p.D93G | P61764 | protein_coding | tolerated(0.65) | benign(0.009) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
STXBP1 | SNV | Missense_Mutation | novel | c.495N>T | p.Lys165Asn | p.K165N | P61764 | protein_coding | deleterious(0.04) | possibly_damaging(0.572) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
STXBP1 | SNV | Missense_Mutation | rs794727970 | c.704N>A | p.Arg235Gln | p.R235Q | P61764 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-C5-A1BK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |