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Gene: SAP18 |
Gene summary for SAP18 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SAP18 | Gene ID | 10284 |
| Gene name | Sin3A associated protein 18 | |
| Gene Alias | 2HOR0202 | |
| Cytomap | 13q12.11 | |
| Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | O00422 |
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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 |
| 10284 | SAP18 | GSM4909282 | Human | Breast | IDC | 1.76e-08 | 2.97e-01 | -0.0288 |
| 10284 | SAP18 | GSM4909285 | Human | Breast | IDC | 1.00e-10 | 3.11e-01 | 0.21 |
| 10284 | SAP18 | GSM4909286 | Human | Breast | IDC | 1.40e-05 | -1.73e-01 | 0.1081 |
| 10284 | SAP18 | GSM4909287 | Human | Breast | IDC | 7.03e-03 | -3.23e-01 | 0.2057 |
| 10284 | SAP18 | GSM4909293 | Human | Breast | IDC | 1.57e-04 | -2.09e-01 | 0.1581 |
| 10284 | SAP18 | GSM4909294 | Human | Breast | IDC | 4.15e-05 | -2.14e-01 | 0.2022 |
| 10284 | SAP18 | GSM4909296 | Human | Breast | IDC | 5.04e-08 | -2.27e-01 | 0.1524 |
| 10284 | SAP18 | GSM4909297 | Human | Breast | IDC | 1.37e-23 | -3.62e-01 | 0.1517 |
| 10284 | SAP18 | GSM4909309 | Human | Breast | IDC | 1.45e-03 | -1.73e-01 | 0.0483 |
| 10284 | SAP18 | GSM4909311 | Human | Breast | IDC | 3.98e-45 | -5.51e-01 | 0.1534 |
| 10284 | SAP18 | GSM4909312 | Human | Breast | IDC | 3.75e-10 | -2.63e-01 | 0.1552 |
| 10284 | SAP18 | GSM4909313 | Human | Breast | IDC | 4.18e-04 | -2.65e-01 | 0.0391 |
| 10284 | SAP18 | GSM4909316 | Human | Breast | IDC | 9.91e-06 | -1.23e-01 | 0.21 |
| 10284 | SAP18 | GSM4909317 | Human | Breast | IDC | 4.72e-24 | 4.50e-01 | 0.1355 |
| 10284 | SAP18 | GSM4909318 | Human | Breast | IDC | 5.39e-17 | 5.58e-01 | 0.2031 |
| 10284 | SAP18 | GSM4909319 | Human | Breast | IDC | 6.00e-57 | -4.70e-01 | 0.1563 |
| 10284 | SAP18 | GSM4909320 | Human | Breast | IDC | 1.25e-10 | -2.65e-01 | 0.1575 |
| 10284 | SAP18 | GSM4909321 | Human | Breast | IDC | 2.45e-15 | 7.42e-02 | 0.1559 |
| 10284 | SAP18 | brca1 | Human | Breast | Precancer | 3.41e-11 | 3.52e-01 | -0.0338 |
| 10284 | SAP18 | brca2 | Human | Breast | Precancer | 1.46e-06 | 2.42e-01 | -0.024 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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:00083809 | Breast | Precancer | RNA splicing | 65/1080 | 434/18723 | 1.27e-12 | 2.53e-10 | 65 |
| GO:00434849 | Breast | Precancer | regulation of RNA splicing | 34/1080 | 148/18723 | 2.66e-12 | 4.75e-10 | 34 |
| GO:00003759 | Breast | Precancer | RNA splicing, via transesterification reactions | 52/1080 | 324/18723 | 1.74e-11 | 2.22e-09 | 52 |
| GO:00003779 | Breast | Precancer | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
| GO:00003989 | Breast | Precancer | mRNA splicing, via spliceosome | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
| GO:00480249 | Breast | Precancer | regulation of mRNA splicing, via spliceosome | 22/1080 | 101/18723 | 5.29e-08 | 3.18e-06 | 22 |
| GO:19033118 | Breast | Precancer | regulation of mRNA metabolic process | 38/1080 | 288/18723 | 1.63e-06 | 5.97e-05 | 38 |
| GO:00506848 | Breast | Precancer | regulation of mRNA processing | 23/1080 | 137/18723 | 3.49e-06 | 1.13e-04 | 23 |
| GO:00331199 | Breast | Precancer | negative regulation of RNA splicing | 9/1080 | 25/18723 | 6.03e-06 | 1.72e-04 | 9 |
| GO:00003808 | Breast | Precancer | alternative mRNA splicing, via spliceosome | 15/1080 | 77/18723 | 2.86e-05 | 6.37e-04 | 15 |
| GO:00003818 | Breast | Precancer | regulation of alternative mRNA splicing, via spliceosome | 13/1080 | 60/18723 | 2.98e-05 | 6.58e-04 | 13 |
| GO:19033129 | Breast | Precancer | negative regulation of mRNA metabolic process | 16/1080 | 92/18723 | 6.70e-05 | 1.35e-03 | 16 |
| GO:00480255 | Breast | Precancer | negative regulation of mRNA splicing, via spliceosome | 6/1080 | 20/18723 | 6.99e-04 | 8.43e-03 | 6 |
| GO:00506865 | Breast | Precancer | negative regulation of mRNA processing | 6/1080 | 29/18723 | 5.49e-03 | 4.01e-02 | 6 |
| GO:000838014 | Breast | IDC | RNA splicing | 73/1434 | 434/18723 | 1.27e-10 | 1.57e-08 | 73 |
| GO:004348414 | Breast | IDC | regulation of RNA splicing | 36/1434 | 148/18723 | 3.32e-10 | 3.77e-08 | 36 |
| GO:000037514 | Breast | IDC | RNA splicing, via transesterification reactions | 58/1434 | 324/18723 | 9.44e-10 | 9.58e-08 | 58 |
| GO:000037714 | Breast | IDC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 57/1434 | 320/18723 | 1.60e-09 | 1.49e-07 | 57 |
| GO:000039814 | Breast | IDC | mRNA splicing, via spliceosome | 57/1434 | 320/18723 | 1.60e-09 | 1.49e-07 | 57 |
| GO:004802414 | Breast | IDC | regulation of mRNA splicing, via spliceosome | 23/1434 | 101/18723 | 1.74e-06 | 7.28e-05 | 23 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa03015 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
| hsa030151 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
| hsa0301321 | Esophagus | ESCC | Nucleocytoplasmic transport | 89/4205 | 108/8465 | 1.20e-12 | 2.37e-11 | 1.21e-11 | 89 |
| hsa0301524 | Esophagus | ESCC | mRNA surveillance pathway | 72/4205 | 97/8465 | 6.12e-07 | 4.10e-06 | 2.10e-06 | 72 |
| hsa0301331 | Esophagus | ESCC | Nucleocytoplasmic transport | 89/4205 | 108/8465 | 1.20e-12 | 2.37e-11 | 1.21e-11 | 89 |
| hsa0301534 | Esophagus | ESCC | mRNA surveillance pathway | 72/4205 | 97/8465 | 6.12e-07 | 4.10e-06 | 2.10e-06 | 72 |
| hsa030154 | Liver | Cirrhotic | mRNA surveillance pathway | 46/2530 | 97/8465 | 1.92e-04 | 1.30e-03 | 8.03e-04 | 46 |
| hsa0301511 | Liver | Cirrhotic | mRNA surveillance pathway | 46/2530 | 97/8465 | 1.92e-04 | 1.30e-03 | 8.03e-04 | 46 |
| hsa0301521 | Liver | HCC | mRNA surveillance pathway | 66/4020 | 97/8465 | 3.16e-05 | 1.88e-04 | 1.04e-04 | 66 |
| hsa0301531 | Liver | HCC | mRNA surveillance pathway | 66/4020 | 97/8465 | 3.16e-05 | 1.88e-04 | 1.04e-04 | 66 |
| hsa030136 | Oral cavity | OSCC | Nucleocytoplasmic transport | 82/3704 | 108/8465 | 7.93e-12 | 1.33e-10 | 6.77e-11 | 82 |
| hsa030158 | Oral cavity | OSCC | mRNA surveillance pathway | 75/3704 | 97/8465 | 1.30e-11 | 2.01e-10 | 1.02e-10 | 75 |
| hsa0301311 | Oral cavity | OSCC | Nucleocytoplasmic transport | 82/3704 | 108/8465 | 7.93e-12 | 1.33e-10 | 6.77e-11 | 82 |
| hsa0301513 | Oral cavity | OSCC | mRNA surveillance pathway | 75/3704 | 97/8465 | 1.30e-11 | 2.01e-10 | 1.02e-10 | 75 |
| hsa0301523 | Oral cavity | LP | mRNA surveillance pathway | 50/2418 | 97/8465 | 1.39e-06 | 1.50e-05 | 9.66e-06 | 50 |
| hsa030132 | Oral cavity | LP | Nucleocytoplasmic transport | 53/2418 | 108/8465 | 4.68e-06 | 4.10e-05 | 2.64e-05 | 53 |
| hsa0301533 | Oral cavity | LP | mRNA surveillance pathway | 50/2418 | 97/8465 | 1.39e-06 | 1.50e-05 | 9.66e-06 | 50 |
| hsa030133 | Oral cavity | LP | Nucleocytoplasmic transport | 53/2418 | 108/8465 | 4.68e-06 | 4.10e-05 | 2.64e-05 | 53 |
| hsa030134 | Oral cavity | EOLP | Nucleocytoplasmic transport | 34/1218 | 108/8465 | 4.24e-06 | 2.91e-05 | 1.72e-05 | 34 |
| hsa0301541 | Oral cavity | EOLP | mRNA surveillance pathway | 30/1218 | 97/8465 | 2.26e-05 | 1.20e-04 | 7.07e-05 | 30 |
| 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 |
| SAP18 | SNV | Missense_Mutation | novel | c.187N>T | p.Asp63Tyr | p.D63Y | protein_coding | deleterious(0.03) | benign(0.208) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SAP18 | SNV | Missense_Mutation | rs376710499 | c.503G>A | p.Arg168His | p.R168H | protein_coding | tolerated(0.1) | benign(0.109) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| SAP18 | SNV | Missense_Mutation | c.389C>A | p.Ser130Tyr | p.S130Y | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-AG-3727-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | ||
| SAP18 | insertion | Frame_Shift_Ins | novel | c.331_332insT | p.Thr113TyrfsTer4 | p.T113Yfs*4 | protein_coding | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
| SAP18 | SNV | Missense_Mutation | c.308N>A | p.Gly103Asp | p.G103D | protein_coding | tolerated(0.13) | benign(0.062) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| SAP18 | SNV | Missense_Mutation | novel | c.221N>G | p.Glu74Gly | p.E74G | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| SAP18 | SNV | Missense_Mutation | novel | c.170N>A | p.Gly57Asp | p.G57D | protein_coding | deleterious(0.03) | benign(0.405) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD | |
| SAP18 | SNV | Missense_Mutation | rs757198379 | c.108G>T | p.Glu36Asp | p.E36D | protein_coding | tolerated(0.17) | benign(0.187) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| SAP18 | SNV | Missense_Mutation | novel | c.350G>T | p.Arg117Ile | p.R117I | protein_coding | deleterious(0.04) | benign(0.181) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| SAP18 | SNV | Missense_Mutation | novel | c.279N>C | p.Lys93Asn | p.K93N | protein_coding | deleterious(0) | possibly_damaging(0.561) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
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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 |
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