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Gene: SPINT2 |
Gene summary for SPINT2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SPINT2 | Gene ID | 10653 |
| Gene name | serine peptidase inhibitor, Kunitz type 2 | |
| Gene Alias | DIAR3 | |
| Cytomap | 19q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A140VJV6 |
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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 |
| 10653 | SPINT2 | GSM4909280 | Human | Breast | Precancer | 3.84e-03 | -6.73e-01 | 0.0305 |
| 10653 | SPINT2 | GSM4909281 | Human | Breast | IDC | 2.26e-09 | 3.08e-01 | 0.21 |
| 10653 | SPINT2 | GSM4909282 | Human | Breast | IDC | 2.28e-12 | 3.11e-01 | -0.0288 |
| 10653 | SPINT2 | GSM4909285 | Human | Breast | IDC | 4.84e-44 | 5.52e-01 | 0.21 |
| 10653 | SPINT2 | GSM4909286 | Human | Breast | IDC | 5.38e-08 | -1.41e-01 | 0.1081 |
| 10653 | SPINT2 | GSM4909291 | Human | Breast | IDC | 5.32e-14 | 4.24e-01 | 0.1753 |
| 10653 | SPINT2 | GSM4909293 | Human | Breast | IDC | 1.81e-04 | 2.62e-01 | 0.1581 |
| 10653 | SPINT2 | GSM4909294 | Human | Breast | IDC | 1.52e-14 | -2.81e-01 | 0.2022 |
| 10653 | SPINT2 | GSM4909296 | Human | Breast | IDC | 6.23e-07 | -1.80e-01 | 0.1524 |
| 10653 | SPINT2 | GSM4909297 | Human | Breast | IDC | 4.98e-16 | -1.57e-01 | 0.1517 |
| 10653 | SPINT2 | GSM4909298 | Human | Breast | IDC | 6.17e-06 | 2.40e-01 | 0.1551 |
| 10653 | SPINT2 | GSM4909305 | Human | Breast | IDC | 9.67e-03 | 2.45e-01 | 0.0436 |
| 10653 | SPINT2 | GSM4909306 | Human | Breast | IDC | 8.91e-56 | 6.21e-01 | 0.1564 |
| 10653 | SPINT2 | GSM4909307 | Human | Breast | IDC | 1.27e-03 | 2.30e-01 | 0.1569 |
| 10653 | SPINT2 | GSM4909309 | Human | Breast | IDC | 1.28e-02 | 1.45e-02 | 0.0483 |
| 10653 | SPINT2 | GSM4909311 | Human | Breast | IDC | 3.22e-37 | -1.93e-01 | 0.1534 |
| 10653 | SPINT2 | GSM4909312 | Human | Breast | IDC | 1.27e-10 | 1.88e-01 | 0.1552 |
| 10653 | SPINT2 | GSM4909313 | Human | Breast | IDC | 1.56e-02 | 1.34e-01 | 0.0391 |
| 10653 | SPINT2 | GSM4909315 | Human | Breast | IDC | 1.66e-09 | 3.63e-02 | 0.21 |
| 10653 | SPINT2 | GSM4909316 | Human | Breast | IDC | 1.62e-05 | -1.02e-01 | 0.21 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
| 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 | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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:00525479 | Breast | Precancer | regulation of peptidase activity | 71/1080 | 461/18723 | 2.72e-14 | 6.94e-12 | 71 |
| GO:00525489 | Breast | Precancer | regulation of endopeptidase activity | 67/1080 | 432/18723 | 1.06e-13 | 2.36e-11 | 67 |
| GO:00458619 | Breast | Precancer | negative regulation of proteolysis | 50/1080 | 351/18723 | 2.99e-09 | 2.39e-07 | 50 |
| GO:00513468 | Breast | Precancer | negative regulation of hydrolase activity | 50/1080 | 379/18723 | 3.85e-08 | 2.34e-06 | 50 |
| GO:00104668 | Breast | Precancer | negative regulation of peptidase activity | 38/1080 | 262/18723 | 1.46e-07 | 7.82e-06 | 38 |
| GO:00109519 | Breast | Precancer | negative regulation of endopeptidase activity | 37/1080 | 252/18723 | 1.55e-07 | 8.05e-06 | 37 |
| GO:00224079 | Breast | Precancer | regulation of cell-cell adhesion | 45/1080 | 448/18723 | 2.12e-04 | 3.30e-03 | 45 |
| GO:00018927 | Breast | Precancer | embryonic placenta development | 14/1080 | 82/18723 | 2.30e-04 | 3.48e-03 | 14 |
| GO:00486087 | Breast | Precancer | reproductive structure development | 43/1080 | 424/18723 | 2.36e-04 | 3.56e-03 | 43 |
| GO:00614587 | Breast | Precancer | reproductive system development | 43/1080 | 427/18723 | 2.75e-04 | 4.00e-03 | 43 |
| GO:00018907 | Breast | Precancer | placenta development | 19/1080 | 144/18723 | 6.26e-04 | 7.78e-03 | 19 |
| GO:00351486 | Breast | Precancer | tube formation | 19/1080 | 148/18723 | 8.79e-04 | 1.01e-02 | 19 |
| GO:00017017 | Breast | Precancer | in utero embryonic development | 35/1080 | 367/18723 | 2.47e-03 | 2.27e-02 | 35 |
| GO:0060706 | Breast | Precancer | cell differentiation involved in embryonic placenta development | 6/1080 | 25/18723 | 2.49e-03 | 2.28e-02 | 6 |
| GO:00071638 | Breast | Precancer | establishment or maintenance of cell polarity | 23/1080 | 218/18723 | 3.82e-03 | 3.06e-02 | 23 |
| GO:00018386 | Breast | Precancer | embryonic epithelial tube formation | 15/1080 | 121/18723 | 4.12e-03 | 3.24e-02 | 15 |
| GO:00605625 | Breast | Precancer | epithelial tube morphogenesis | 31/1080 | 325/18723 | 4.21e-03 | 3.31e-02 | 31 |
| GO:00020649 | Breast | Precancer | epithelial cell development | 23/1080 | 220/18723 | 4.28e-03 | 3.35e-02 | 23 |
| GO:00607135 | Breast | Precancer | labyrinthine layer morphogenesis | 5/1080 | 22/18723 | 7.32e-03 | 4.88e-02 | 5 |
| GO:005254714 | Breast | IDC | regulation of peptidase activity | 96/1434 | 461/18723 | 7.58e-20 | 6.15e-17 | 96 |
| 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 27 28 29 30 31 32 33 34 35 36 37 38 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| SPINT2 | SNV | Missense_Mutation | novel | c.367T>A | p.Ser123Thr | p.S123T | O43291 | protein_coding | tolerated(0.1) | benign(0.003) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
| SPINT2 | SNV | Missense_Mutation | c.68N>G | p.Ser23Cys | p.S23C | O43291 | protein_coding | tolerated_low_confidence(0.06) | benign(0) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| SPINT2 | SNV | Missense_Mutation | rs11548458 | c.142N>T | p.Arg48Trp | p.R48W | O43291 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SPINT2 | SNV | Missense_Mutation | c.443N>A | p.Arg148His | p.R148H | O43291 | protein_coding | deleterious(0) | possibly_damaging(0.709) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| SPINT2 | SNV | Missense_Mutation | c.510N>T | p.Lys170Asn | p.K170N | O43291 | protein_coding | deleterious(0) | possibly_damaging(0.74) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| SPINT2 | deletion | Frame_Shift_Del | c.205delN | p.Gly70AlafsTer10 | p.G70Afs*10 | O43291 | protein_coding | TCGA-CM-4743-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | capecitabine | SD | |||
| SPINT2 | SNV | Missense_Mutation | rs746801741 | c.457G>A | p.Val153Met | p.V153M | O43291 | protein_coding | deleterious(0.05) | possibly_damaging(0.75) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SPINT2 | SNV | Missense_Mutation | novel | c.16N>A | p.Gly6Arg | p.G6R | O43291 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.652) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| SPINT2 | SNV | Missense_Mutation | c.316N>T | p.Ala106Ser | p.A106S | O43291 | protein_coding | tolerated(0.06) | benign(0.074) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SPINT2 | SNV | Missense_Mutation | c.580N>T | p.Leu194Phe | p.L194F | O43291 | protein_coding | tolerated(0.7) | benign(0.04) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 |
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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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