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Gene: SPINK1 |
Gene summary for SPINK1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SPINK1 | Gene ID | 6690 |
| Gene name | serine peptidase inhibitor Kazal type 1 | |
| Gene Alias | PCTT | |
| Cytomap | 5q32 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P00995 |
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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 |
| 6690 | SPINK1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 5.86e-26 | 5.99e-01 | 0.0155 |
| 6690 | SPINK1 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.84e-15 | 9.98e-01 | 0.0216 |
| 6690 | SPINK1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 7.39e-03 | 3.43e-01 | -0.0811 |
| 6690 | SPINK1 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.02e-02 | 7.86e-01 | -0.2602 |
| 6690 | SPINK1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.80e-06 | 4.37e-01 | -0.1207 |
| 6690 | SPINK1 | HTA11_83_2000001011 | Human | Colorectum | SER | 2.30e-04 | 4.03e-01 | -0.1526 |
| 6690 | SPINK1 | HTA11_696_2000001011 | Human | Colorectum | AD | 2.81e-32 | 8.49e-01 | -0.1464 |
| 6690 | SPINK1 | HTA11_866_2000001011 | Human | Colorectum | AD | 9.90e-21 | 5.97e-01 | -0.1001 |
| 6690 | SPINK1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.15e-38 | 1.57e+00 | -0.059 |
| 6690 | SPINK1 | HTA11_546_2000001011 | Human | Colorectum | AD | 8.42e-16 | 8.91e-01 | -0.0842 |
| 6690 | SPINK1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.12e-07 | 4.68e-01 | -0.0179 |
| 6690 | SPINK1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.81e-55 | 1.33e+00 | 0.096 |
| 6690 | SPINK1 | HTA11_7663_2000001011 | Human | Colorectum | SER | 9.33e-14 | 8.67e-01 | 0.0131 |
| 6690 | SPINK1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 1.93e-04 | 6.02e-01 | -0.0177 |
| 6690 | SPINK1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 4.16e-32 | 9.46e-01 | 0.0338 |
| 6690 | SPINK1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 4.50e-28 | 8.05e-01 | 0.0674 |
| 6690 | SPINK1 | HTA11_6818_2000001011 | Human | Colorectum | AD | 1.79e-02 | 4.46e-01 | 0.0112 |
| 6690 | SPINK1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.13e-17 | 8.89e-01 | 0.0588 |
| 6690 | SPINK1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.21e-17 | 7.63e-01 | 0.281 |
| 6690 | SPINK1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.84e-21 | 1.11e+00 | 0.2585 |
| Page: 1 2 3 4 5 |
| 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 | ||
| 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 | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
| GO:0010563 | Colorectum | AD | negative regulation of phosphorus metabolic process | 130/3918 | 442/18723 | 1.26e-05 | 2.76e-04 | 130 |
| GO:0045936 | Colorectum | AD | negative regulation of phosphate metabolic process | 129/3918 | 441/18723 | 1.81e-05 | 3.76e-04 | 129 |
| GO:0045861 | Colorectum | AD | negative regulation of proteolysis | 106/3918 | 351/18723 | 2.33e-05 | 4.57e-04 | 106 |
| GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
| GO:0042326 | Colorectum | AD | negative regulation of phosphorylation | 112/3918 | 385/18723 | 8.02e-05 | 1.27e-03 | 112 |
| GO:0001933 | Colorectum | AD | negative regulation of protein phosphorylation | 101/3918 | 342/18723 | 9.39e-05 | 1.42e-03 | 101 |
| GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
| GO:00458611 | Colorectum | SER | negative regulation of proteolysis | 88/2897 | 351/18723 | 1.74e-06 | 7.50e-05 | 88 |
| GO:00525481 | Colorectum | SER | regulation of endopeptidase activity | 103/2897 | 432/18723 | 2.86e-06 | 1.16e-04 | 103 |
| GO:00105631 | Colorectum | SER | negative regulation of phosphorus metabolic process | 101/2897 | 442/18723 | 2.39e-05 | 6.70e-04 | 101 |
| GO:00459361 | Colorectum | SER | negative regulation of phosphate metabolic process | 100/2897 | 441/18723 | 3.62e-05 | 9.39e-04 | 100 |
| GO:00019331 | Colorectum | SER | negative regulation of protein phosphorylation | 79/2897 | 342/18723 | 1.21e-04 | 2.49e-03 | 79 |
| GO:00423261 | Colorectum | SER | negative regulation of phosphorylation | 86/2897 | 385/18723 | 2.10e-04 | 3.78e-03 | 86 |
| GO:0051346 | Colorectum | SER | negative regulation of hydrolase activity | 82/2897 | 379/18723 | 8.19e-04 | 1.01e-02 | 82 |
| GO:0051051 | Colorectum | SER | negative regulation of transport | 98/2897 | 470/18723 | 1.01e-03 | 1.19e-02 | 98 |
| GO:0010466 | Colorectum | SER | negative regulation of peptidase activity | 57/2897 | 262/18723 | 4.15e-03 | 3.38e-02 | 57 |
| GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
| GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
| GO:00105632 | Colorectum | MSS | negative regulation of phosphorus metabolic process | 118/3467 | 442/18723 | 1.18e-05 | 2.77e-04 | 118 |
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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. |
| 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 |
| SPINK1 | SNV | Missense_Mutation | novel | c.113G>A | p.Gly38Glu | p.G38E | P00995 | protein_coding | tolerated(0.05) | probably_damaging(1) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| SPINK1 | SNV | Missense_Mutation | c.37G>A | p.Ala13Thr | p.A13T | P00995 | protein_coding | tolerated(0.17) | benign(0.038) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| SPINK1 | SNV | Missense_Mutation | rs760077990 | c.203A>G | p.Gln68Arg | p.Q68R | P00995 | protein_coding | tolerated(0.24) | possibly_damaging(0.462) | TCGA-NC-A5HQ-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Chemotherapy | carboplatin | CR |
| SPINK1 | SNV | Missense_Mutation | novel | c.148N>A | p.Asp50Asn | p.D50N | P00995 | protein_coding | deleterious(0.03) | benign(0.212) | TCGA-F7-A623-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| SPINK1 | SNV | Missense_Mutation | c.184N>C | p.Phe62Leu | p.F62L | P00995 | protein_coding | tolerated(0.47) | benign(0) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 |
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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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