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:001063125 | Skin | cSCC | epithelial cell migration | 115/4864 | 357/18723 | 4.64e-03 | 2.37e-02 | 115 |
GO:004586025 | Skin | cSCC | positive regulation of protein kinase activity | 123/4864 | 386/18723 | 5.23e-03 | 2.64e-02 | 123 |
GO:005189422 | Skin | cSCC | positive regulation of focal adhesion assembly | 14/4864 | 28/18723 | 5.47e-03 | 2.73e-02 | 14 |
GO:000721922 | Skin | cSCC | Notch signaling pathway | 60/4864 | 172/18723 | 5.82e-03 | 2.87e-02 | 60 |
GO:009013225 | Skin | cSCC | epithelium migration | 115/4864 | 360/18723 | 6.20e-03 | 3.04e-02 | 115 |
GO:00513026 | Skin | cSCC | regulation of cell division | 61/4864 | 177/18723 | 7.34e-03 | 3.47e-02 | 61 |
GO:000716224 | Skin | cSCC | negative regulation of cell adhesion | 98/4864 | 303/18723 | 7.45e-03 | 3.50e-02 | 98 |
GO:0032231111 | Skin | cSCC | regulation of actin filament bundle assembly | 39/4864 | 105/18723 | 7.56e-03 | 3.53e-02 | 39 |
GO:19054765 | Skin | cSCC | negative regulation of protein localization to membrane | 15/4864 | 32/18723 | 8.65e-03 | 4.00e-02 | 15 |
GO:001081221 | Skin | cSCC | negative regulation of cell-substrate adhesion | 27/4864 | 68/18723 | 9.07e-03 | 4.16e-02 | 27 |
GO:00019531 | Skin | cSCC | negative regulation of cell-matrix adhesion | 18/4864 | 41/18723 | 9.64e-03 | 4.31e-02 | 18 |
GO:009013025 | Skin | cSCC | tissue migration | 115/4864 | 365/18723 | 9.81e-03 | 4.33e-02 | 115 |
GO:000166727 | Skin | cSCC | ameboidal-type cell migration | 146/4864 | 475/18723 | 1.05e-02 | 4.58e-02 | 146 |
GO:0032386111 | Thyroid | PTC | regulation of intracellular transport | 202/5968 | 337/18723 | 1.12e-26 | 3.93e-24 | 202 |
GO:0033157112 | Thyroid | PTC | regulation of intracellular protein transport | 149/5968 | 229/18723 | 3.83e-25 | 1.15e-22 | 149 |
GO:0032388112 | Thyroid | PTC | positive regulation of intracellular transport | 132/5968 | 202/18723 | 1.10e-22 | 2.57e-20 | 132 |
GO:0090316110 | Thyroid | PTC | positive regulation of intracellular protein transport | 109/5968 | 160/18723 | 4.20e-21 | 7.79e-19 | 109 |
GO:0006605113 | Thyroid | PTC | protein targeting | 180/5968 | 314/18723 | 6.81e-21 | 1.19e-18 | 180 |
GO:1903829113 | Thyroid | PTC | positive regulation of cellular protein localization | 162/5968 | 276/18723 | 2.40e-20 | 3.52e-18 | 162 |
GO:0051098113 | Thyroid | PTC | regulation of binding | 195/5968 | 363/18723 | 3.21e-18 | 3.37e-16 | 195 |
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 |