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/IMPDH1_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/IMPDH1_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/IMPDH1_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/IMPDH1_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/IMPDH1_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:007252125 | Esophagus | HGIN | purine-containing compound metabolic process | 78/2587 | 416/18723 | 2.78e-03 | 2.73e-02 | 78 |
GO:000925920 | Esophagus | HGIN | ribonucleotide metabolic process | 71/2587 | 385/18723 | 6.25e-03 | 4.97e-02 | 71 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0019693111 | Esophagus | ESCC | ribose phosphate metabolic process | 234/8552 | 396/18723 | 4.24e-08 | 7.76e-07 | 234 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:0009141111 | Esophagus | ESCC | nucleoside triphosphate metabolic process | 78/8552 | 112/18723 | 2.36e-07 | 3.59e-06 | 78 |
GO:0009259111 | Esophagus | ESCC | ribonucleotide metabolic process | 224/8552 | 385/18723 | 4.41e-07 | 6.00e-06 | 224 |
GO:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
GO:0009150111 | Esophagus | ESCC | purine ribonucleotide metabolic process | 213/8552 | 368/18723 | 1.40e-06 | 1.69e-05 | 213 |
GO:0046390110 | Esophagus | ESCC | ribose phosphate biosynthetic process | 119/8552 | 190/18723 | 1.73e-06 | 2.06e-05 | 119 |
GO:0006163111 | Esophagus | ESCC | purine nucleotide metabolic process | 226/8552 | 396/18723 | 2.81e-06 | 3.21e-05 | 226 |
GO:0009144110 | Esophagus | ESCC | purine nucleoside triphosphate metabolic process | 61/8552 | 88/18723 | 6.06e-06 | 6.23e-05 | 61 |
GO:000919918 | Esophagus | ESCC | ribonucleoside triphosphate metabolic process | 61/8552 | 89/18723 | 1.07e-05 | 1.01e-04 | 61 |
GO:000916516 | Esophagus | ESCC | nucleotide biosynthetic process | 150/8552 | 254/18723 | 1.12e-05 | 1.06e-04 | 150 |
GO:0009260110 | Esophagus | ESCC | ribonucleotide biosynthetic process | 112/8552 | 182/18723 | 1.12e-05 | 1.06e-04 | 112 |
GO:190129316 | Esophagus | ESCC | nucleoside phosphate biosynthetic process | 151/8552 | 256/18723 | 1.15e-05 | 1.08e-04 | 151 |
GO:000914219 | Esophagus | ESCC | nucleoside triphosphate biosynthetic process | 58/8552 | 85/18723 | 2.16e-05 | 1.87e-04 | 58 |
GO:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
GO:0009152110 | Esophagus | ESCC | purine ribonucleotide biosynthetic process | 103/8552 | 169/18723 | 4.40e-05 | 3.51e-04 | 103 |
GO:000920519 | Esophagus | ESCC | purine ribonucleoside triphosphate metabolic process | 55/8552 | 82/18723 | 7.34e-05 | 5.51e-04 | 55 |
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 |
IMPDH1 | SNV | Missense_Mutation | novel | c.157G>A | p.Asp53Asn | p.D53N | P20839 | protein_coding | tolerated_low_confidence(0.97) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IMPDH1 | SNV | Missense_Mutation | | c.410C>A | p.Thr137Asn | p.T137N | P20839 | protein_coding | tolerated(0.07) | benign(0.055) | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
IMPDH1 | SNV | Missense_Mutation | rs373444002 | c.1552G>A | p.Glu518Lys | p.E518K | P20839 | protein_coding | deleterious(0.01) | possibly_damaging(0.871) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
IMPDH1 | SNV | Missense_Mutation | | c.907N>G | p.Leu303Val | p.L303V | P20839 | protein_coding | tolerated(0.07) | possibly_damaging(0.773) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IMPDH1 | insertion | Frame_Shift_Ins | novel | c.170_171insTGGGGGTGGTCTGGGGGAATTAG | p.Pro58GlyfsTer41 | p.P58Gfs*41 | P20839 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IMPDH1 | SNV | Missense_Mutation | rs201071873 | c.737N>A | p.Arg246Gln | p.R246Q | P20839 | protein_coding | deleterious(0.02) | benign(0.426) | TCGA-DS-A5RQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | CR |
IMPDH1 | SNV | Missense_Mutation | rs773472205 | c.1318N>T | p.Arg440Trp | p.R440W | P20839 | protein_coding | deleterious(0.02) | probably_damaging(0.931) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
IMPDH1 | SNV | Missense_Mutation | | c.378N>G | p.Phe126Leu | p.F126L | P20839 | protein_coding | tolerated(0.07) | benign(0.029) | TCGA-JW-A5VJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
IMPDH1 | SNV | Missense_Mutation | rs756300430 | c.1351G>A | p.Gly451Ser | p.G451S | P20839 | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IMPDH1 | SNV | Missense_Mutation | rs771930753 | c.661N>T | p.Arg221Trp | p.R221W | P20839 | protein_coding | deleterious(0.02) | possibly_damaging(0.849) | TCGA-AZ-4681-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |