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Gene: SRSF6 |
Gene summary for SRSF6 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SRSF6 | Gene ID | 6431 |
| Gene name | serine and arginine rich splicing factor 6 | |
| Gene Alias | B52 | |
| Cytomap | 20q13.11 | |
| Gene Type | protein-coding | GO ID | GO:0000245 | UniProtAcc | Q13247 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 6431 | SRSF6 | HTA11_1938_2000001011 | Human | Colorectum | AD | 5.23e-04 | 4.74e-01 | -0.0811 |
| 6431 | SRSF6 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.13e-06 | 5.09e-01 | -0.1088 |
| 6431 | SRSF6 | HTA11_347_2000001011 | Human | Colorectum | AD | 9.86e-13 | 5.12e-01 | -0.1954 |
| 6431 | SRSF6 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.15e-10 | 6.15e-01 | 0.3859 |
| 6431 | SRSF6 | A015-C-203 | Human | Colorectum | FAP | 7.67e-05 | 1.01e-01 | -0.1294 |
| 6431 | SRSF6 | A002-C-021 | Human | Colorectum | FAP | 3.59e-02 | 1.97e-01 | 0.1171 |
| 6431 | SRSF6 | A002-C-205 | Human | Colorectum | FAP | 1.05e-03 | 4.12e-02 | -0.1236 |
| 6431 | SRSF6 | A015-C-104 | Human | Colorectum | FAP | 2.03e-07 | 1.55e-01 | -0.1899 |
| 6431 | SRSF6 | A002-C-016 | Human | Colorectum | FAP | 7.71e-04 | -8.37e-02 | 0.0521 |
| 6431 | SRSF6 | A002-C-116 | Human | Colorectum | FAP | 6.74e-05 | -9.40e-02 | -0.0452 |
| 6431 | SRSF6 | A018-E-020 | Human | Colorectum | FAP | 6.90e-05 | 2.17e-01 | -0.2034 |
| 6431 | SRSF6 | F034 | Human | Colorectum | FAP | 1.82e-03 | 2.22e-02 | -0.0665 |
| 6431 | SRSF6 | AEH-subject1 | Human | Endometrium | AEH | 1.08e-02 | -2.40e-01 | -0.3059 |
| 6431 | SRSF6 | AEH-subject2 | Human | Endometrium | AEH | 5.19e-09 | -2.47e-01 | -0.2525 |
| 6431 | SRSF6 | AEH-subject3 | Human | Endometrium | AEH | 6.69e-09 | -2.62e-01 | -0.2576 |
| 6431 | SRSF6 | AEH-subject4 | Human | Endometrium | AEH | 2.52e-06 | -2.93e-01 | -0.2657 |
| 6431 | SRSF6 | AEH-subject5 | Human | Endometrium | AEH | 3.21e-08 | -3.39e-01 | -0.2953 |
| 6431 | SRSF6 | EEC-subject1 | Human | Endometrium | EEC | 2.61e-12 | -3.17e-01 | -0.2682 |
| 6431 | SRSF6 | EEC-subject2 | Human | Endometrium | EEC | 1.70e-05 | -2.48e-01 | -0.2607 |
| 6431 | SRSF6 | EEC-subject3 | Human | Endometrium | EEC | 5.10e-26 | -4.40e-01 | -0.2525 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:004206017 | Endometrium | EEC | wound healing | 92/2168 | 422/18723 | 1.12e-09 | 9.58e-08 | 92 |
| GO:000038014 | Endometrium | EEC | alternative mRNA splicing, via spliceosome | 26/2168 | 77/18723 | 2.42e-07 | 1.05e-05 | 26 |
| GO:004802514 | Endometrium | EEC | negative regulation of mRNA splicing, via spliceosome | 12/2168 | 20/18723 | 2.90e-07 | 1.20e-05 | 12 |
| GO:005067315 | Endometrium | EEC | epithelial cell proliferation | 83/2168 | 437/18723 | 3.38e-06 | 9.14e-05 | 83 |
| GO:000038114 | Endometrium | EEC | regulation of alternative mRNA splicing, via spliceosome | 20/2168 | 60/18723 | 7.27e-06 | 1.67e-04 | 20 |
| GO:005067814 | Endometrium | EEC | regulation of epithelial cell proliferation | 72/2168 | 381/18723 | 1.76e-05 | 3.33e-04 | 72 |
| GO:190331217 | Endometrium | EEC | negative regulation of mRNA metabolic process | 25/2168 | 92/18723 | 3.19e-05 | 5.51e-04 | 25 |
| GO:005068612 | Endometrium | EEC | negative regulation of mRNA processing | 12/2168 | 29/18723 | 4.39e-05 | 7.16e-04 | 12 |
| GO:004343416 | Endometrium | EEC | response to peptide hormone | 74/2168 | 414/18723 | 9.11e-05 | 1.28e-03 | 74 |
| GO:005067913 | Endometrium | EEC | positive regulation of epithelial cell proliferation | 43/2168 | 207/18723 | 9.53e-05 | 1.34e-03 | 43 |
| GO:003085613 | Endometrium | EEC | regulation of epithelial cell differentiation | 34/2168 | 154/18723 | 1.47e-04 | 1.87e-03 | 34 |
| GO:190303415 | Endometrium | EEC | regulation of response to wounding | 36/2168 | 167/18723 | 1.58e-04 | 1.99e-03 | 36 |
| GO:006104114 | Endometrium | EEC | regulation of wound healing | 28/2168 | 134/18723 | 1.34e-03 | 1.10e-02 | 28 |
| GO:004568212 | Endometrium | EEC | regulation of epidermis development | 16/2168 | 65/18723 | 2.51e-03 | 1.83e-02 | 16 |
| GO:190401911 | Endometrium | EEC | epithelial cell apoptotic process | 25/2168 | 121/18723 | 2.76e-03 | 1.97e-02 | 25 |
| GO:003286814 | Endometrium | EEC | response to insulin | 46/2168 | 264/18723 | 3.01e-03 | 2.10e-02 | 46 |
| GO:006042511 | Endometrium | EEC | lung morphogenesis | 13/2168 | 50/18723 | 3.72e-03 | 2.48e-02 | 13 |
| GO:19040361 | Endometrium | EEC | negative regulation of epithelial cell apoptotic process | 13/2168 | 50/18723 | 3.72e-03 | 2.48e-02 | 13 |
| GO:004358814 | Endometrium | EEC | skin development | 45/2168 | 263/18723 | 4.69e-03 | 2.99e-02 | 45 |
| GO:004560412 | Endometrium | EEC | regulation of epidermal cell differentiation | 14/2168 | 58/18723 | 5.49e-03 | 3.33e-02 | 14 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa03040 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
| hsa030401 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
| hsa030402 | Colorectum | MSS | Spliceosome | 66/1875 | 217/8465 | 2.58e-03 | 1.27e-02 | 7.81e-03 | 66 |
| hsa030403 | Colorectum | MSS | Spliceosome | 66/1875 | 217/8465 | 2.58e-03 | 1.27e-02 | 7.81e-03 | 66 |
| hsa030409 | Endometrium | AEH | Spliceosome | 54/1197 | 217/8465 | 1.47e-05 | 1.65e-04 | 1.21e-04 | 54 |
| hsa0304014 | Endometrium | AEH | Spliceosome | 54/1197 | 217/8465 | 1.47e-05 | 1.65e-04 | 1.21e-04 | 54 |
| hsa0304024 | Endometrium | EEC | Spliceosome | 54/1237 | 217/8465 | 3.78e-05 | 3.88e-04 | 2.89e-04 | 54 |
| hsa0304034 | Endometrium | EEC | Spliceosome | 54/1237 | 217/8465 | 3.78e-05 | 3.88e-04 | 2.89e-04 | 54 |
| hsa0304018 | Esophagus | HGIN | Spliceosome | 79/1383 | 217/8465 | 3.22e-13 | 7.00e-12 | 5.56e-12 | 79 |
| hsa0304019 | Esophagus | HGIN | Spliceosome | 79/1383 | 217/8465 | 3.22e-13 | 7.00e-12 | 5.56e-12 | 79 |
| hsa0304027 | Esophagus | ESCC | Spliceosome | 128/4205 | 217/8465 | 3.31e-03 | 8.79e-03 | 4.50e-03 | 128 |
| hsa0304037 | Esophagus | ESCC | Spliceosome | 128/4205 | 217/8465 | 3.31e-03 | 8.79e-03 | 4.50e-03 | 128 |
| hsa030407 | Liver | Cirrhotic | Spliceosome | 102/2530 | 217/8465 | 5.69e-08 | 9.47e-07 | 5.84e-07 | 102 |
| hsa0304012 | Liver | Cirrhotic | Spliceosome | 102/2530 | 217/8465 | 5.69e-08 | 9.47e-07 | 5.84e-07 | 102 |
| hsa0304022 | Liver | HCC | Spliceosome | 122/4020 | 217/8465 | 5.55e-03 | 1.60e-02 | 8.91e-03 | 122 |
| hsa0304032 | Liver | HCC | Spliceosome | 122/4020 | 217/8465 | 5.55e-03 | 1.60e-02 | 8.91e-03 | 122 |
| hsa0304016 | Oral cavity | OSCC | Spliceosome | 123/3704 | 217/8465 | 7.21e-05 | 2.74e-04 | 1.40e-04 | 123 |
| hsa0304017 | Oral cavity | OSCC | Spliceosome | 123/3704 | 217/8465 | 7.21e-05 | 2.74e-04 | 1.40e-04 | 123 |
| hsa0304026 | Oral cavity | LP | Spliceosome | 106/2418 | 217/8465 | 1.30e-10 | 2.40e-09 | 1.55e-09 | 106 |
| hsa0304036 | Oral cavity | LP | Spliceosome | 106/2418 | 217/8465 | 1.30e-10 | 2.40e-09 | 1.55e-09 | 106 |
| Page: 1 2 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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