Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/SRSF6_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/SRSF6_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/SRSF6_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/SRSF6_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/SRSF6_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/SRSF6_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/SRSF6_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/SRSF6_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/SRSF6_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:004802428 | Skin | cSCC | regulation of mRNA splicing, via spliceosome | 67/4864 | 101/18723 | 1.83e-17 | 1.98e-15 | 67 |
GO:0000380110 | Skin | cSCC | alternative mRNA splicing, via spliceosome | 47/4864 | 77/18723 | 9.03e-11 | 4.04e-09 | 47 |
GO:004358823 | Skin | cSCC | skin development | 111/4864 | 263/18723 | 6.35e-09 | 2.10e-07 | 111 |
GO:000854425 | Skin | cSCC | epidermis development | 131/4864 | 324/18723 | 7.38e-09 | 2.39e-07 | 131 |
GO:003311928 | Skin | cSCC | negative regulation of RNA splicing | 20/4864 | 25/18723 | 2.46e-08 | 6.89e-07 | 20 |
GO:005068617 | Skin | cSCC | negative regulation of mRNA processing | 22/4864 | 29/18723 | 2.73e-08 | 7.41e-07 | 22 |
GO:190331228 | Skin | cSCC | negative regulation of mRNA metabolic process | 47/4864 | 92/18723 | 2.24e-07 | 4.77e-06 | 47 |
GO:00002458 | Skin | cSCC | spliceosomal complex assembly | 42/4864 | 79/18723 | 2.35e-07 | 4.99e-06 | 42 |
GO:004802519 | Skin | cSCC | negative regulation of mRNA splicing, via spliceosome | 16/4864 | 20/18723 | 6.71e-07 | 1.26e-05 | 16 |
GO:0000381110 | Skin | cSCC | regulation of alternative mRNA splicing, via spliceosome | 33/4864 | 60/18723 | 1.66e-06 | 2.79e-05 | 33 |
GO:004343426 | Skin | cSCC | response to peptide hormone | 150/4864 | 414/18723 | 2.11e-06 | 3.43e-05 | 150 |
GO:004206029 | Skin | cSCC | wound healing | 152/4864 | 422/18723 | 2.66e-06 | 4.26e-05 | 152 |
GO:003021622 | Skin | cSCC | keratinocyte differentiation | 59/4864 | 139/18723 | 1.70e-05 | 2.07e-04 | 59 |
GO:000991324 | Skin | cSCC | epidermal cell differentiation | 78/4864 | 202/18723 | 5.12e-05 | 5.28e-04 | 78 |
GO:004361621 | Skin | cSCC | keratinocyte proliferation | 24/4864 | 46/18723 | 1.32e-04 | 1.19e-03 | 24 |
GO:0032868110 | Skin | cSCC | response to insulin | 93/4864 | 264/18723 | 5.10e-04 | 3.83e-03 | 93 |
GO:005067324 | Skin | cSCC | epithelial cell proliferation | 144/4864 | 437/18723 | 6.07e-04 | 4.38e-03 | 144 |
GO:004568215 | Skin | cSCC | regulation of epidermis development | 28/4864 | 65/18723 | 2.02e-03 | 1.20e-02 | 28 |
GO:004561614 | Skin | cSCC | regulation of keratinocyte differentiation | 18/4864 | 37/18723 | 2.52e-03 | 1.43e-02 | 18 |
GO:00063765 | Skin | cSCC | mRNA splice site selection | 22/4864 | 49/18723 | 3.18e-03 | 1.74e-02 | 22 |
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 |
SRSF6 | SNV | Missense_Mutation | rs760768897 | c.962N>C | p.Arg321Thr | p.R321T | Q13247 | protein_coding | tolerated_low_confidence(0.12) | benign(0.156) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SRSF6 | SNV | Missense_Mutation | | c.88N>A | p.Glu30Lys | p.E30K | Q13247 | protein_coding | deleterious(0.01) | possibly_damaging(0.782) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SRSF6 | SNV | Missense_Mutation | novel | c.967N>C | p.Thr323Pro | p.T323P | Q13247 | protein_coding | tolerated_low_confidence(0.06) | benign(0.003) | TCGA-VS-A8EJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
SRSF6 | SNV | Missense_Mutation | rs773175595 | c.908C>T | p.Ser303Leu | p.S303L | Q13247 | protein_coding | deleterious_low_confidence(0) | benign(0.001) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SRSF6 | SNV | Missense_Mutation | | c.566G>A | p.Arg189Gln | p.R189Q | Q13247 | protein_coding | deleterious(0.05) | probably_damaging(0.978) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
SRSF6 | SNV | Missense_Mutation | rs777495508 | c.992N>A | p.Arg331His | p.R331H | Q13247 | protein_coding | tolerated_low_confidence(0.06) | benign(0.001) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SRSF6 | SNV | Missense_Mutation | rs773175595 | c.908N>T | p.Ser303Leu | p.S303L | Q13247 | protein_coding | deleterious_low_confidence(0) | benign(0.001) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SRSF6 | insertion | Frame_Shift_Ins | novel | c.932dupA | p.Ala312GlyfsTer18 | p.A312Gfs*18 | Q13247 | protein_coding | | | TCGA-AA-3866-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SRSF6 | insertion | Nonsense_Mutation | novel | c.616_617insATTAAATACACT | p.Ser206delinsAsnTerIleHisCys | p.S206delinsN*IHC | Q13247 | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SRSF6 | insertion | In_Frame_Ins | novel | c.137_138insCGACGCCGA | p.Asp49_Ala51dup | p.D49_A51dup | Q13247 | protein_coding | | | TCGA-EI-6510-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |