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/RBBP6_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/RBBP6_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/RBBP6_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/RBBP6_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/RBBP6_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/RBBP6_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/RBBP6_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:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:00352647 | Esophagus | ESCC | multicellular organism growth | 80/8552 | 132/18723 | 3.84e-04 | 2.22e-03 | 80 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:003526411 | Liver | Cirrhotic | multicellular organism growth | 47/4634 | 132/18723 | 3.40e-03 | 1.89e-02 | 47 |
GO:000170111 | Liver | HCC | in utero embryonic development | 204/7958 | 367/18723 | 2.44e-07 | 4.30e-06 | 204 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00062751 | Liver | HCC | regulation of DNA replication | 60/7958 | 107/18723 | 3.15e-03 | 1.46e-02 | 60 |
GO:003526421 | Liver | HCC | multicellular organism growth | 70/7958 | 132/18723 | 9.29e-03 | 3.57e-02 | 70 |
GO:00017016 | Lung | IAC | in utero embryonic development | 68/2061 | 367/18723 | 1.12e-05 | 3.45e-04 | 68 |
GO:00352644 | Lung | IAC | multicellular organism growth | 25/2061 | 132/18723 | 4.69e-03 | 3.68e-02 | 25 |
GO:00485684 | Lung | IAC | embryonic organ development | 64/2061 | 427/18723 | 6.46e-03 | 4.59e-02 | 64 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:000170116 | Oral cavity | OSCC | in utero embryonic development | 207/7305 | 367/18723 | 7.92e-12 | 2.95e-10 | 207 |
GO:00062753 | Oral cavity | OSCC | regulation of DNA replication | 62/7305 | 107/18723 | 5.49e-05 | 4.54e-04 | 62 |
GO:00352646 | Oral cavity | OSCC | multicellular organism growth | 65/7305 | 132/18723 | 1.06e-02 | 3.60e-02 | 65 |
GO:000170117 | Oral cavity | LP | in utero embryonic development | 142/4623 | 367/18723 | 1.48e-09 | 6.75e-08 | 142 |
GO:000626011 | Oral cavity | LP | DNA replication | 97/4623 | 260/18723 | 3.67e-06 | 7.75e-05 | 97 |
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 |
RBBP6 | SNV | Missense_Mutation | novel | c.2741C>G | p.Thr914Arg | p.T914R | Q7Z6E9 | protein_coding | tolerated_low_confidence(0.11) | benign(0) | TCGA-VQ-A8PD-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
RBBP6 | SNV | Missense_Mutation | rs758145892 | c.2132N>A | p.Arg711His | p.R711H | Q7Z6E9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-VQ-A8PP-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | PD |
RBBP6 | SNV | Missense_Mutation | rs767988268 | c.2540N>T | p.Ala847Val | p.A847V | Q7Z6E9 | protein_coding | tolerated_low_confidence(0.4) | benign(0) | TCGA-VQ-A91E-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | fluorouracil | CR |
RBBP6 | insertion | Frame_Shift_Ins | novel | c.4809_4810insA | p.Thr1604AsnfsTer5 | p.T1604Nfs*5 | Q7Z6E9 | protein_coding | | | TCGA-D7-8578-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RBBP6 | SNV | Missense_Mutation | novel | c.658N>G | p.Ile220Val | p.I220V | Q7Z6E9 | protein_coding | tolerated_low_confidence(0.16) | possibly_damaging(0.56) | TCGA-DE-A69J-01 | Thyroid | thyroid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RBBP6 | SNV | Missense_Mutation | novel | c.3233N>A | p.Ser1078Tyr | p.S1078Y | Q7Z6E9 | protein_coding | tolerated_low_confidence(0.07) | possibly_damaging(0.841) | TCGA-DJ-A3VL-01 | Thyroid | thyroid carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
RBBP6 | insertion | Frame_Shift_Ins | novel | c.3009_3010insAC | p.Lys1004ThrfsTer33 | p.K1004Tfs*33 | Q7Z6E9 | protein_coding | | | TCGA-DJ-A2PZ-01 | Thyroid | thyroid carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
RBBP6 | insertion | In_Frame_Ins | novel | c.4051_4052insGAATAACAAAAT | p.Asn1351delinsArgIleThrLysTyr | p.N1351delinsRITKY | Q7Z6E9 | protein_coding | | | TCGA-DJ-A3VK-01 | Thyroid | thyroid carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
RBBP6 | insertion | In_Frame_Ins | novel | c.3231_3232insGTTTGGTTT | p.Ser1077_Ser1078insValTrpPhe | p.S1077_S1078insVWF | Q7Z6E9 | protein_coding | | | TCGA-DJ-A3VL-01 | Thyroid | thyroid carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
RBBP6 | insertion | Nonsense_Mutation | novel | c.1583_1584insAGTAAATATTATATTTA | p.Cys528Ter | p.C528* | Q7Z6E9 | protein_coding | | | TCGA-E8-A436-01 | Thyroid | thyroid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |