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/PMPCA_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/PMPCA_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/PMPCA_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/PMPCA_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/PMPCA_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:007259427 | Skin | cSCC | establishment of protein localization to organelle | 213/4864 | 422/18723 | 1.40e-27 | 5.15e-25 | 213 |
GO:000660527 | Skin | cSCC | protein targeting | 153/4864 | 314/18723 | 2.62e-18 | 3.36e-16 | 153 |
GO:000683927 | Skin | cSCC | mitochondrial transport | 124/4864 | 254/18723 | 3.54e-15 | 2.81e-13 | 124 |
GO:007058525 | Skin | cSCC | protein localization to mitochondrion | 74/4864 | 125/18723 | 3.95e-15 | 3.06e-13 | 74 |
GO:007265525 | Skin | cSCC | establishment of protein localization to mitochondrion | 71/4864 | 120/18723 | 1.48e-14 | 1.04e-12 | 71 |
GO:000662624 | Skin | cSCC | protein targeting to mitochondrion | 61/4864 | 100/18723 | 1.53e-13 | 9.32e-12 | 61 |
GO:005160419 | Skin | cSCC | protein maturation | 117/4864 | 294/18723 | 1.27e-07 | 2.93e-06 | 117 |
GO:0034982 | Skin | cSCC | mitochondrial protein processing | 9/4864 | 13/18723 | 1.33e-03 | 8.50e-03 | 9 |
GO:00164858 | Skin | cSCC | protein processing | 79/4864 | 225/18723 | 1.43e-03 | 9.02e-03 | 79 |
GO:0072594112 | Thyroid | PTC | establishment of protein localization to organelle | 244/5968 | 422/18723 | 1.18e-28 | 4.97e-26 | 244 |
GO:0006605113 | Thyroid | PTC | protein targeting | 180/5968 | 314/18723 | 6.81e-21 | 1.19e-18 | 180 |
GO:000683928 | Thyroid | PTC | mitochondrial transport | 150/5968 | 254/18723 | 2.76e-19 | 3.34e-17 | 150 |
GO:0070585112 | Thyroid | PTC | protein localization to mitochondrion | 83/5968 | 125/18723 | 2.15e-15 | 1.56e-13 | 83 |
GO:0072655112 | Thyroid | PTC | establishment of protein localization to mitochondrion | 80/5968 | 120/18723 | 4.87e-15 | 3.30e-13 | 80 |
GO:0006626111 | Thyroid | PTC | protein targeting to mitochondrion | 67/5968 | 100/18723 | 5.55e-13 | 2.74e-11 | 67 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:00349822 | Thyroid | PTC | mitochondrial protein processing | 10/5968 | 13/18723 | 1.11e-03 | 6.51e-03 | 10 |
GO:007259429 | Thyroid | ATC | establishment of protein localization to organelle | 247/6293 | 422/18723 | 2.88e-26 | 1.40e-23 | 247 |
GO:000660533 | Thyroid | ATC | protein targeting | 180/6293 | 314/18723 | 3.54e-18 | 4.39e-16 | 180 |
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 |
PMPCA | SNV | Missense_Mutation | rs543713243 | c.466N>A | p.Asp156Asn | p.D156N | Q10713 | protein_coding | tolerated(0.19) | benign(0.142) | TCGA-C8-A12Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
PMPCA | SNV | Missense_Mutation | rs143416740 | c.229N>T | p.Arg77Cys | p.R77C | Q10713 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
PMPCA | SNV | Missense_Mutation | | c.998N>C | p.Asp333Ala | p.D333A | Q10713 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-D8-A27M-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate+5 | SD |
PMPCA | insertion | Frame_Shift_Ins | novel | c.1342_1343insCCCGCCACCACGCCCAGCTA | p.Asp448AlafsTer32 | p.D448Afs*32 | Q10713 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PMPCA | insertion | Nonsense_Mutation | novel | c.1344_1345insTTCTTTTTGTATTTTTAGTAGAGAA | p.Val449PhefsTer6 | p.V449Ffs*6 | Q10713 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PMPCA | SNV | Missense_Mutation | rs869025293 | c.1543G>A | p.Gly515Arg | p.G515R | Q10713 | protein_coding | tolerated(0.06) | probably_damaging(0.999) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PMPCA | SNV | Missense_Mutation | | c.546N>C | p.Glu182Asp | p.E182D | Q10713 | protein_coding | tolerated(0.18) | benign(0.077) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PMPCA | SNV | Missense_Mutation | novel | c.281N>C | p.Ile94Thr | p.I94T | Q10713 | protein_coding | deleterious(0) | possibly_damaging(0.864) | TCGA-MA-AA3X-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
PMPCA | SNV | Missense_Mutation | | c.466G>C | p.Asp156His | p.D156H | Q10713 | protein_coding | tolerated(0.31) | benign(0.082) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PMPCA | SNV | Missense_Mutation | | c.901G>C | p.Glu301Gln | p.E301Q | Q10713 | protein_coding | tolerated(0.23) | benign(0.042) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |