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:000914419 | Esophagus | HGIN | purine nucleoside triphosphate metabolic process | 36/2587 | 88/18723 | 3.49e-10 | 3.05e-08 | 36 |
GO:000914518 | Esophagus | HGIN | purine nucleoside triphosphate biosynthetic process | 31/2587 | 69/18723 | 3.51e-10 | 3.05e-08 | 31 |
GO:000920618 | Esophagus | HGIN | purine ribonucleoside triphosphate biosynthetic process | 30/2587 | 68/18723 | 1.16e-09 | 9.27e-08 | 30 |
GO:000920518 | Esophagus | HGIN | purine ribonucleoside triphosphate metabolic process | 33/2587 | 82/18723 | 3.10e-09 | 2.27e-07 | 33 |
GO:000920117 | Esophagus | HGIN | ribonucleoside triphosphate biosynthetic process | 30/2587 | 74/18723 | 1.30e-08 | 8.15e-07 | 30 |
GO:000914120 | Esophagus | HGIN | nucleoside triphosphate metabolic process | 39/2587 | 112/18723 | 1.56e-08 | 9.53e-07 | 39 |
GO:000919917 | Esophagus | HGIN | ribonucleoside triphosphate metabolic process | 33/2587 | 89/18723 | 3.42e-08 | 1.97e-06 | 33 |
GO:000914218 | Esophagus | HGIN | nucleoside triphosphate biosynthetic process | 32/2587 | 85/18723 | 3.61e-08 | 2.04e-06 | 32 |
GO:000915219 | Esophagus | HGIN | purine ribonucleotide biosynthetic process | 43/2587 | 169/18723 | 3.94e-05 | 9.74e-04 | 43 |
GO:004639019 | Esophagus | HGIN | ribose phosphate biosynthetic process | 46/2587 | 190/18723 | 8.06e-05 | 1.79e-03 | 46 |
GO:007252216 | Esophagus | HGIN | purine-containing compound biosynthetic process | 47/2587 | 200/18723 | 1.46e-04 | 2.91e-03 | 47 |
GO:000616416 | Esophagus | HGIN | purine nucleotide biosynthetic process | 45/2587 | 191/18723 | 1.87e-04 | 3.52e-03 | 45 |
GO:000926019 | Esophagus | HGIN | ribonucleotide biosynthetic process | 43/2587 | 182/18723 | 2.41e-04 | 4.33e-03 | 43 |
GO:000911720 | Esophagus | HGIN | nucleotide metabolic process | 92/2587 | 489/18723 | 1.11e-03 | 1.36e-02 | 92 |
GO:00091659 | Esophagus | HGIN | nucleotide biosynthetic process | 53/2587 | 254/18723 | 1.24e-03 | 1.49e-02 | 53 |
GO:000675320 | Esophagus | HGIN | nucleoside phosphate metabolic process | 93/2587 | 497/18723 | 1.25e-03 | 1.49e-02 | 93 |
GO:19012939 | Esophagus | HGIN | nucleoside phosphate biosynthetic process | 53/2587 | 256/18723 | 1.49e-03 | 1.73e-02 | 53 |
GO:000915026 | Esophagus | HGIN | purine ribonucleotide metabolic process | 71/2587 | 368/18723 | 2.00e-03 | 2.11e-02 | 71 |
GO:000616325 | Esophagus | HGIN | purine nucleotide metabolic process | 75/2587 | 396/18723 | 2.53e-03 | 2.51e-02 | 75 |
GO:001969320 | Esophagus | HGIN | ribose phosphate metabolic process | 75/2587 | 396/18723 | 2.53e-03 | 2.51e-02 | 75 |
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 |