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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 |
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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. |
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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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006056214 | Prostate | Tumor | epithelial tube morphogenesis | 90/3246 | 325/18723 | 1.93e-06 | 3.34e-05 | 90 |
GO:006113813 | Prostate | Tumor | morphogenesis of a branching epithelium | 57/3246 | 182/18723 | 2.66e-06 | 4.45e-05 | 57 |
GO:006071313 | Prostate | Tumor | labyrinthine layer morphogenesis | 13/3246 | 22/18723 | 1.30e-05 | 1.79e-04 | 13 |
GO:000716215 | Prostate | Tumor | negative regulation of cell adhesion | 82/3246 | 303/18723 | 1.38e-05 | 1.89e-04 | 82 |
GO:002240717 | Prostate | Tumor | regulation of cell-cell adhesion | 112/3246 | 448/18723 | 2.20e-05 | 2.80e-04 | 112 |
GO:006066912 | Prostate | Tumor | embryonic placenta morphogenesis | 14/3246 | 26/18723 | 2.56e-05 | 3.16e-04 | 14 |
GO:005134617 | Prostate | Tumor | negative regulation of hydrolase activity | 97/3246 | 379/18723 | 2.87e-05 | 3.46e-04 | 97 |
GO:006067011 | Prostate | Tumor | branching involved in labyrinthine layer morphogenesis | 9/3246 | 13/18723 | 5.11e-05 | 5.62e-04 | 9 |
GO:001633112 | Prostate | Tumor | morphogenesis of embryonic epithelium | 45/3246 | 147/18723 | 5.34e-05 | 5.83e-04 | 45 |
GO:003514814 | Prostate | Tumor | tube formation | 45/3246 | 148/18723 | 6.41e-05 | 6.95e-04 | 45 |
GO:001095116 | Prostate | Tumor | negative regulation of endopeptidase activity | 68/3246 | 252/18723 | 7.91e-05 | 8.19e-04 | 68 |
GO:006070611 | Prostate | Tumor | cell differentiation involved in embryonic placenta development | 13/3246 | 25/18723 | 8.09e-05 | 8.19e-04 | 13 |
GO:001046617 | Prostate | Tumor | negative regulation of peptidase activity | 70/3246 | 262/18723 | 8.76e-05 | 8.66e-04 | 70 |
GO:005127114 | Prostate | Tumor | negative regulation of cellular component movement | 92/3246 | 367/18723 | 1.03e-04 | 9.99e-04 | 92 |
GO:000183813 | Prostate | Tumor | embryonic epithelial tube formation | 38/3246 | 121/18723 | 1.09e-04 | 1.03e-03 | 38 |
GO:000184112 | Prostate | Tumor | neural tube formation | 33/3246 | 102/18723 | 1.60e-04 | 1.44e-03 | 33 |
GO:000338211 | Prostate | Tumor | epithelial cell morphogenesis | 15/3246 | 33/18723 | 1.65e-04 | 1.47e-03 | 15 |
GO:200014614 | Prostate | Tumor | negative regulation of cell motility | 89/3246 | 359/18723 | 1.99e-04 | 1.74e-03 | 89 |
GO:007217512 | Prostate | Tumor | epithelial tube formation | 39/3246 | 132/18723 | 3.66e-04 | 2.86e-03 | 39 |
GO:004001313 | Prostate | Tumor | negative regulation of locomotion | 94/3246 | 391/18723 | 4.20e-04 | 3.21e-03 | 94 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
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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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