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/ITGB1BP1_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/ITGB1BP1_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/ITGB1BP1_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/ITGB1BP1_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/ITGB1BP1_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:19049506 | Skin | cSCC | negative regulation of establishment of protein localization | 52/4864 | 131/18723 | 3.95e-04 | 3.09e-03 | 52 |
GO:005101729 | Skin | cSCC | actin filament bundle assembly | 60/4864 | 157/18723 | 4.86e-04 | 3.66e-03 | 60 |
GO:005067324 | Skin | cSCC | epithelial cell proliferation | 144/4864 | 437/18723 | 6.07e-04 | 4.38e-03 | 144 |
GO:00512245 | Skin | cSCC | negative regulation of protein transport | 50/4864 | 127/18723 | 6.32e-04 | 4.55e-03 | 50 |
GO:190547724 | Skin | cSCC | positive regulation of protein localization to membrane | 43/4864 | 106/18723 | 7.14e-04 | 5.03e-03 | 43 |
GO:006157229 | Skin | cSCC | actin filament bundle organization | 60/4864 | 161/18723 | 1.02e-03 | 6.86e-03 | 60 |
GO:0034446110 | Skin | cSCC | substrate adhesion-dependent cell spreading | 43/4864 | 108/18723 | 1.12e-03 | 7.36e-03 | 43 |
GO:00903175 | Skin | cSCC | negative regulation of intracellular protein transport | 20/4864 | 42/18723 | 2.05e-03 | 1.22e-02 | 20 |
GO:0006469110 | Skin | cSCC | negative regulation of protein kinase activity | 74/4864 | 212/18723 | 2.36e-03 | 1.37e-02 | 74 |
GO:001077121 | Skin | cSCC | negative regulation of cell morphogenesis involved in differentiation | 9/4864 | 14/18723 | 2.87e-03 | 1.60e-02 | 9 |
GO:190002521 | Skin | cSCC | negative regulation of substrate adhesion-dependent cell spreading | 9/4864 | 14/18723 | 2.87e-03 | 1.60e-02 | 9 |
GO:0033673110 | Skin | cSCC | negative regulation of kinase activity | 81/4864 | 237/18723 | 2.95e-03 | 1.64e-02 | 81 |
GO:003367425 | Skin | cSCC | positive regulation of kinase activity | 148/4864 | 467/18723 | 3.00e-03 | 1.66e-02 | 148 |
GO:003514822 | Skin | cSCC | tube formation | 54/4864 | 148/18723 | 3.00e-03 | 1.66e-02 | 54 |
GO:004578529 | Skin | cSCC | positive regulation of cell adhesion | 139/4864 | 437/18723 | 3.39e-03 | 1.84e-02 | 139 |
GO:000195424 | Skin | cSCC | positive regulation of cell-matrix adhesion | 25/4864 | 58/18723 | 3.40e-03 | 1.84e-02 | 25 |
GO:00323876 | Skin | cSCC | negative regulation of intracellular transport | 25/4864 | 58/18723 | 3.40e-03 | 1.84e-02 | 25 |
GO:001081128 | Skin | cSCC | positive regulation of cell-substrate adhesion | 46/4864 | 123/18723 | 3.41e-03 | 1.85e-02 | 46 |
GO:001076110 | Skin | cSCC | fibroblast migration | 21/4864 | 47/18723 | 4.20e-03 | 2.21e-02 | 21 |
GO:015011722 | Skin | cSCC | positive regulation of cell-substrate junction organization | 16/4864 | 33/18723 | 4.50e-03 | 2.30e-02 | 16 |
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 |
ITGB1BP1 | SNV | Missense_Mutation | | c.592N>A | p.Glu198Lys | p.E198K | O14713 | protein_coding | tolerated(0.25) | benign(0.185) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | | c.83N>G | p.Ser28Cys | p.S28C | O14713 | protein_coding | tolerated(0.12) | probably_damaging(0.996) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | rs773209764 | c.8G>A | p.Arg3His | p.R3H | O14713 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.991) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ITGB1BP1 | SNV | Missense_Mutation | | c.83N>A | p.Ser28Tyr | p.S28Y | O14713 | protein_coding | deleterious(0.03) | probably_damaging(0.995) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | rs376533619 | c.317C>T | p.Pro106Leu | p.P106L | O14713 | protein_coding | tolerated(0.31) | benign(0.007) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.29N>A | p.Ser10Asn | p.S10N | O14713 | protein_coding | tolerated_low_confidence(0.19) | probably_damaging(0.95) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.122G>A | p.Ser41Asn | p.S41N | O14713 | protein_coding | deleterious(0.03) | probably_damaging(0.988) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.526N>G | p.Ser176Gly | p.S176G | O14713 | protein_coding | tolerated(0.13) | possibly_damaging(0.59) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | novel | c.439G>A | p.Gly147Ser | p.G147S | O14713 | protein_coding | tolerated(0.27) | probably_damaging(0.999) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITGB1BP1 | SNV | Missense_Mutation | rs771640299 | c.568N>A | p.Ala190Thr | p.A190T | O14713 | protein_coding | tolerated(0.21) | benign(0.207) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |