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/IVNS1ABP_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/IVNS1ABP_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/IVNS1ABP_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/IVNS1ABP_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/IVNS1ABP_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/IVNS1ABP_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190332128 | Skin | AK | negative regulation of protein modification by small protein conjugation or removal | 32/1910 | 95/18723 | 4.71e-10 | 5.26e-08 | 32 |
GO:200124326 | Skin | AK | negative regulation of intrinsic apoptotic signaling pathway | 31/1910 | 98/18723 | 4.97e-09 | 3.63e-07 | 31 |
GO:000961519 | Skin | AK | response to virus | 63/1910 | 367/18723 | 2.53e-05 | 4.54e-04 | 63 |
GO:0008380112 | Skin | cSCC | RNA splicing | 263/4864 | 434/18723 | 2.45e-53 | 5.13e-50 | 263 |
GO:009719329 | Skin | cSCC | intrinsic apoptotic signaling pathway | 150/4864 | 288/18723 | 1.76e-21 | 3.34e-19 | 150 |
GO:200123329 | Skin | cSCC | regulation of apoptotic signaling pathway | 173/4864 | 356/18723 | 2.25e-20 | 3.44e-18 | 173 |
GO:200124229 | Skin | cSCC | regulation of intrinsic apoptotic signaling pathway | 96/4864 | 164/18723 | 9.88e-19 | 1.32e-16 | 96 |
GO:190332029 | Skin | cSCC | regulation of protein modification by small protein conjugation or removal | 125/4864 | 242/18723 | 9.50e-18 | 1.05e-15 | 125 |
GO:003139629 | Skin | cSCC | regulation of protein ubiquitination | 107/4864 | 210/18723 | 7.17e-15 | 5.35e-13 | 107 |
GO:000961522 | Skin | cSCC | response to virus | 152/4864 | 367/18723 | 5.88e-11 | 2.75e-09 | 152 |
GO:200123429 | Skin | cSCC | negative regulation of apoptotic signaling pathway | 101/4864 | 224/18723 | 4.17e-10 | 1.70e-08 | 101 |
GO:200124327 | Skin | cSCC | negative regulation of intrinsic apoptotic signaling pathway | 53/4864 | 98/18723 | 2.91e-09 | 1.02e-07 | 53 |
GO:003139729 | Skin | cSCC | negative regulation of protein ubiquitination | 45/4864 | 83/18723 | 4.04e-08 | 1.05e-06 | 45 |
GO:190332129 | Skin | cSCC | negative regulation of protein modification by small protein conjugation or removal | 49/4864 | 95/18723 | 8.44e-08 | 2.04e-06 | 49 |
GO:00063834 | Skin | cSCC | transcription by RNA polymerase III | 20/4864 | 46/18723 | 7.44e-03 | 3.50e-02 | 20 |
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 |
IVNS1ABP | SNV | Missense_Mutation | novel | c.1711C>G | p.His571Asp | p.H571D | Q9Y6Y0 | protein_coding | tolerated(0.07) | possibly_damaging(0.872) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
IVNS1ABP | SNV | Missense_Mutation | | c.203N>G | p.His68Arg | p.H68R | Q9Y6Y0 | protein_coding | tolerated(0.43) | benign(0.265) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IVNS1ABP | SNV | Missense_Mutation | | c.888G>C | p.Lys296Asn | p.K296N | Q9Y6Y0 | protein_coding | tolerated(0.09) | probably_damaging(0.915) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
IVNS1ABP | SNV | Missense_Mutation | | c.523N>T | p.Arg175Trp | p.R175W | Q9Y6Y0 | protein_coding | tolerated(0.19) | probably_damaging(1) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
IVNS1ABP | insertion | In_Frame_Ins | novel | c.931_932insCTTTTTCTCATTGTGCAGATT | p.Ile311delinsThrPheSerHisCysAlaAspLeu | p.I311delinsTFSHCADL | Q9Y6Y0 | protein_coding | | | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
IVNS1ABP | insertion | Nonsense_Mutation | novel | c.929_930insCATCCTTAAAAAGTTTTAA | p.Phe312LeufsTer5 | p.F312Lfs*5 | Q9Y6Y0 | protein_coding | | | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
IVNS1ABP | SNV | Missense_Mutation | novel | c.142G>T | p.Ala48Ser | p.A48S | Q9Y6Y0 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IVNS1ABP | SNV | Missense_Mutation | novel | c.1309G>A | p.Asp437Asn | p.D437N | Q9Y6Y0 | protein_coding | tolerated(0.32) | benign(0.013) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IVNS1ABP | SNV | Missense_Mutation | novel | c.1696N>A | p.Gly566Ser | p.G566S | Q9Y6Y0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VS-A9UI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
IVNS1ABP | SNV | Missense_Mutation | novel | c.1912N>C | p.Lys638Gln | p.K638Q | Q9Y6Y0 | protein_coding | tolerated_low_confidence(0.18) | benign(0.001) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |