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/DHX30_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/DHX30_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/DHX30_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/DHX30_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/DHX30_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:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:0071826111 | Esophagus | ESCC | ribonucleoprotein complex subunit organization | 166/8552 | 227/18723 | 2.94e-17 | 2.42e-15 | 166 |
GO:0022618111 | Esophagus | ESCC | ribonucleoprotein complex assembly | 159/8552 | 220/18723 | 8.19e-16 | 5.71e-14 | 159 |
GO:0042273111 | Esophagus | ESCC | ribosomal large subunit biogenesis | 65/8552 | 72/18723 | 1.53e-15 | 9.82e-14 | 65 |
GO:0042255111 | Esophagus | ESCC | ribosome assembly | 50/8552 | 61/18723 | 5.66e-09 | 1.17e-07 | 50 |
GO:0000027111 | Esophagus | ESCC | ribosomal large subunit assembly | 22/8552 | 27/18723 | 1.49e-04 | 9.92e-04 | 22 |
GO:002261312 | Liver | Cirrhotic | ribonucleoprotein complex biogenesis | 231/4634 | 463/18723 | 3.28e-32 | 6.86e-29 | 231 |
GO:004225412 | Liver | Cirrhotic | ribosome biogenesis | 154/4634 | 299/18723 | 1.18e-23 | 6.72e-21 | 154 |
GO:007182612 | Liver | Cirrhotic | ribonucleoprotein complex subunit organization | 115/4634 | 227/18723 | 2.67e-17 | 3.63e-15 | 115 |
GO:002261812 | Liver | Cirrhotic | ribonucleoprotein complex assembly | 112/4634 | 220/18723 | 4.35e-17 | 5.81e-15 | 112 |
GO:004227312 | Liver | Cirrhotic | ribosomal large subunit biogenesis | 47/4634 | 72/18723 | 4.20e-13 | 3.29e-11 | 47 |
GO:004225512 | Liver | Cirrhotic | ribosome assembly | 39/4634 | 61/18723 | 1.07e-10 | 5.72e-09 | 39 |
GO:000002712 | Liver | Cirrhotic | ribosomal large subunit assembly | 15/4634 | 27/18723 | 5.96e-04 | 4.63e-03 | 15 |
GO:002261322 | Liver | HCC | ribonucleoprotein complex biogenesis | 355/7958 | 463/18723 | 7.76e-52 | 4.92e-48 | 355 |
GO:004225422 | Liver | HCC | ribosome biogenesis | 246/7958 | 299/18723 | 4.99e-46 | 1.58e-42 | 246 |
GO:007182622 | Liver | HCC | ribonucleoprotein complex subunit organization | 159/7958 | 227/18723 | 3.14e-17 | 3.06e-15 | 159 |
GO:004227322 | Liver | HCC | ribosomal large subunit biogenesis | 64/7958 | 72/18723 | 2.31e-16 | 2.03e-14 | 64 |
GO:002261822 | Liver | HCC | ribonucleoprotein complex assembly | 153/7958 | 220/18723 | 3.44e-16 | 2.91e-14 | 153 |
GO:004225522 | Liver | HCC | ribosome assembly | 50/7958 | 61/18723 | 2.79e-10 | 9.50e-09 | 50 |
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 |
DHX30 | SNV | Missense_Mutation | rs748383690 | c.1951N>A | p.Asp651Asn | p.D651N | Q7L2E3 | protein_coding | tolerated(0.19) | benign(0.137) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DHX30 | SNV | Missense_Mutation | rs754158644 | c.2086G>A | p.Glu696Lys | p.E696K | Q7L2E3 | protein_coding | tolerated(0.85) | benign(0.001) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DHX30 | SNV | Missense_Mutation | rs776820854 | c.2987N>T | p.Ser996Leu | p.S996L | Q7L2E3 | protein_coding | deleterious(0.02) | benign(0.05) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
DHX30 | insertion | Nonsense_Mutation | novel | c.1843_1844insGAACAAGGACTGAGTAGAACTGGAGGCATCTGAGCTT | p.Met615ArgfsTer6 | p.M615Rfs*6 | Q7L2E3 | protein_coding | | | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DHX30 | insertion | In_Frame_Ins | novel | c.909_910insATTTCATGCCTTCTGCCCTTCTGGCTCCCT | p.Lys303_Ala304insIleSerCysLeuLeuProPheTrpLeuPro | p.K303_A304insISCLLPFWLP | Q7L2E3 | protein_coding | | | TCGA-AO-A0JF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
DHX30 | insertion | Frame_Shift_Ins | novel | c.797_798insCCTCCACA | p.Met266IlefsTer26 | p.M266Ifs*26 | Q7L2E3 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
DHX30 | insertion | Nonsense_Mutation | novel | c.799_800insTAAGGTGAGTTGGGTCTCCTAGA | p.Gln267LeufsTer3 | p.Q267Lfs*3 | Q7L2E3 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
DHX30 | insertion | Frame_Shift_Ins | novel | c.1725_1726insCCTGACCAACATGGTGAAACCTTGTCTGTACTAAAAATACA | p.Lys576ProfsTer29 | p.K576Pfs*29 | Q7L2E3 | protein_coding | | | TCGA-BH-A0BM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DHX30 | SNV | Missense_Mutation | rs139889547 | c.464G>A | p.Arg155His | p.R155H | Q7L2E3 | protein_coding | tolerated_low_confidence(0.06) | benign(0.232) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DHX30 | SNV | Missense_Mutation | novel | c.742C>A | p.Leu248Ile | p.L248I | Q7L2E3 | protein_coding | tolerated(0.1) | benign(0.242) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |