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/HPS4_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/HPS4_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/HPS4_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/HPS4_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:003164722 | Liver | HCC | regulation of protein stability | 211/7958 | 298/18723 | 2.29e-23 | 5.01e-21 | 211 |
GO:000660512 | Liver | HCC | protein targeting | 219/7958 | 314/18723 | 7.74e-23 | 1.49e-20 | 219 |
GO:003238621 | Liver | HCC | regulation of intracellular transport | 231/7958 | 337/18723 | 1.99e-22 | 3.40e-20 | 231 |
GO:000683912 | Liver | HCC | mitochondrial transport | 184/7958 | 254/18723 | 2.30e-22 | 3.83e-20 | 184 |
GO:003315721 | Liver | HCC | regulation of intracellular protein transport | 165/7958 | 229/18723 | 8.37e-20 | 1.15e-17 | 165 |
GO:003238821 | Liver | HCC | positive regulation of intracellular transport | 148/7958 | 202/18723 | 5.15e-19 | 6.66e-17 | 148 |
GO:007265512 | Liver | HCC | establishment of protein localization to mitochondrion | 98/7958 | 120/18723 | 1.18e-18 | 1.46e-16 | 98 |
GO:007058512 | Liver | HCC | protein localization to mitochondrion | 101/7958 | 125/18723 | 1.53e-18 | 1.86e-16 | 101 |
GO:009031621 | Liver | HCC | positive regulation of intracellular protein transport | 121/7958 | 160/18723 | 1.27e-17 | 1.39e-15 | 121 |
GO:005082122 | Liver | HCC | protein stabilization | 139/7958 | 191/18723 | 1.61e-17 | 1.71e-15 | 139 |
GO:190495122 | Liver | HCC | positive regulation of establishment of protein localization | 207/7958 | 319/18723 | 3.95e-16 | 3.29e-14 | 207 |
GO:000662612 | Liver | HCC | protein targeting to mitochondrion | 82/7958 | 100/18723 | 4.93e-16 | 4.05e-14 | 82 |
GO:001605021 | Liver | HCC | vesicle organization | 194/7958 | 300/18723 | 5.58e-15 | 3.97e-13 | 194 |
GO:005122222 | Liver | HCC | positive regulation of protein transport | 194/7958 | 303/18723 | 2.41e-14 | 1.56e-12 | 194 |
GO:000703311 | Liver | HCC | vacuole organization | 119/7958 | 180/18723 | 1.22e-10 | 4.25e-09 | 119 |
GO:190374911 | Liver | HCC | positive regulation of establishment of protein localization to mitochondrion | 33/7958 | 36/18723 | 7.67e-10 | 2.37e-08 | 33 |
GO:19039551 | Liver | HCC | positive regulation of protein targeting to mitochondrion | 30/7958 | 32/18723 | 1.19e-09 | 3.58e-08 | 30 |
GO:190353311 | Liver | HCC | regulation of protein targeting | 60/7958 | 81/18723 | 7.70e-09 | 1.94e-07 | 60 |
GO:190374711 | Liver | HCC | regulation of establishment of protein localization to mitochondrion | 41/7958 | 50/18723 | 1.14e-08 | 2.83e-07 | 41 |
GO:190321411 | Liver | HCC | regulation of protein targeting to mitochondrion | 36/7958 | 44/18723 | 1.02e-07 | 1.98e-06 | 36 |
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 |
HPS4 | SNV | Missense_Mutation | novel | c.1978N>T | p.Ala660Ser | p.A660S | Q9NQG7 | protein_coding | deleterious(0.02) | probably_damaging(0.986) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HPS4 | SNV | Missense_Mutation | | c.365C>A | p.Pro122His | p.P122H | Q9NQG7 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HPS4 | SNV | Missense_Mutation | | c.874N>T | p.Ala292Ser | p.A292S | Q9NQG7 | protein_coding | tolerated(0.15) | benign(0.178) | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HPS4 | SNV | Missense_Mutation | | c.304N>C | p.Asp102His | p.D102H | Q9NQG7 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
HPS4 | insertion | Nonsense_Mutation | novel | c.1411_1412insGGGGGTAAAAGC | p.Leu470_Leu471insTrpGlyTerLys | p.L470_L471insWG*K | Q9NQG7 | protein_coding | | | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD |
HPS4 | insertion | In_Frame_Ins | novel | c.2100_2101insTCCCTTACTCTAGGTGAATGCTTCACTGCTGAGGTCCCCTCA | p.Leu700_Leu701insSerLeuThrLeuGlyGluCysPheThrAlaGluValProSer | p.L700_L701insSLTLGECFTAEVPS | Q9NQG7 | protein_coding | | | TCGA-BH-A0B7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
HPS4 | SNV | Missense_Mutation | novel | c.1547N>T | p.Gln516Leu | p.Q516L | Q9NQG7 | protein_coding | tolerated(0.23) | benign(0.15) | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
HPS4 | SNV | Missense_Mutation | | c.1388N>A | p.Arg463Lys | p.R463K | Q9NQG7 | protein_coding | tolerated(0.33) | benign(0.058) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
HPS4 | SNV | Missense_Mutation | | c.176N>C | p.Gly59Ala | p.G59A | Q9NQG7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A2RC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HPS4 | insertion | In_Frame_Ins | novel | c.1545_1546insTCC | p.Cys515_Gln516insSer | p.C515_Q516insS | Q9NQG7 | protein_coding | | | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |