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Gene: SPINK5 |
Gene summary for SPINK5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SPINK5 | Gene ID | 11005 |
| Gene name | serine peptidase inhibitor Kazal type 5 | |
| Gene Alias | LEKTI | |
| Cytomap | 5q32 | |
| Gene Type | protein-coding | GO ID | GO:0001525 | UniProtAcc | Q9NQ38 |
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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 |
| 11005 | SPINK5 | HTA11_2487_2000001011 | Human | Colorectum | SER | 7.07e-03 | 2.48e-01 | -0.1808 |
| 11005 | SPINK5 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.12e-03 | 2.15e-01 | -0.1954 |
| 11005 | SPINK5 | HTA11_411_2000001011 | Human | Colorectum | SER | 8.77e-04 | 9.01e-01 | -0.2602 |
| 11005 | SPINK5 | HTA11_2112_2000001011 | Human | Colorectum | SER | 2.95e-07 | 1.03e+00 | -0.2196 |
| 11005 | SPINK5 | HTA11_696_2000001011 | Human | Colorectum | AD | 5.72e-03 | 3.26e-01 | -0.1464 |
| 11005 | SPINK5 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.94e-04 | 7.88e-01 | -0.1706 |
| 11005 | SPINK5 | HTA11_5212_2000001011 | Human | Colorectum | AD | 6.75e-13 | 1.13e+00 | -0.2061 |
| 11005 | SPINK5 | A002-C-016 | Human | Colorectum | FAP | 3.61e-02 | -7.30e-02 | 0.0521 |
| 11005 | SPINK5 | LZE4T | Human | Esophagus | ESCC | 6.25e-04 | 1.04e-01 | 0.0811 |
| 11005 | SPINK5 | P2T-E | Human | Esophagus | ESCC | 8.19e-18 | 1.07e-01 | 0.1177 |
| 11005 | SPINK5 | P4T-E | Human | Esophagus | ESCC | 1.11e-02 | 2.51e-02 | 0.1323 |
| 11005 | SPINK5 | P8T-E | Human | Esophagus | ESCC | 7.58e-03 | 6.02e-02 | 0.0889 |
| 11005 | SPINK5 | P9T-E | Human | Esophagus | ESCC | 1.75e-04 | 4.59e-02 | 0.1131 |
| 11005 | SPINK5 | P12T-E | Human | Esophagus | ESCC | 1.04e-07 | 3.19e-01 | 0.1122 |
| 11005 | SPINK5 | P15T-E | Human | Esophagus | ESCC | 6.33e-05 | 3.89e-02 | 0.1149 |
| 11005 | SPINK5 | P26T-E | Human | Esophagus | ESCC | 9.32e-05 | 4.63e-02 | 0.1276 |
| 11005 | SPINK5 | P27T-E | Human | Esophagus | ESCC | 1.21e-06 | 4.48e-02 | 0.1055 |
| 11005 | SPINK5 | P28T-E | Human | Esophagus | ESCC | 1.83e-03 | 2.62e-01 | 0.1149 |
| 11005 | SPINK5 | P30T-E | Human | Esophagus | ESCC | 7.21e-03 | 2.33e-01 | 0.137 |
| 11005 | SPINK5 | P48T-E | Human | Esophagus | ESCC | 9.49e-07 | 5.92e-02 | 0.0959 |
| Page: 1 2 3 |
| 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 | ||
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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: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:0035315 | Colorectum | AD | hair cell differentiation | 21/3918 | 47/18723 | 2.14e-04 | 2.82e-03 | 21 |
| GO:1903706 | Colorectum | AD | regulation of hemopoiesis | 99/3918 | 367/18723 | 3.08e-03 | 2.28e-02 | 99 |
| GO:0009913 | Colorectum | AD | epidermal cell differentiation | 58/3918 | 202/18723 | 5.16e-03 | 3.42e-02 | 58 |
| GO:0008544 | Colorectum | AD | epidermis development | 87/3918 | 324/18723 | 5.99e-03 | 3.76e-02 | 87 |
| 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:0051346 | Colorectum | SER | negative regulation of hydrolase activity | 82/2897 | 379/18723 | 8.19e-04 | 1.01e-02 | 82 |
| GO:00353151 | Colorectum | SER | hair cell differentiation | 15/2897 | 47/18723 | 3.68e-03 | 3.07e-02 | 15 |
| GO:0010466 | Colorectum | SER | negative regulation of peptidase activity | 57/2897 | 262/18723 | 4.15e-03 | 3.38e-02 | 57 |
| GO:0043588 | Colorectum | FAP | skin development | 58/2622 | 263/18723 | 2.44e-04 | 3.39e-03 | 58 |
| GO:00085441 | Colorectum | FAP | epidermis development | 66/2622 | 324/18723 | 9.63e-04 | 9.51e-03 | 66 |
| GO:0021700 | Colorectum | FAP | developmental maturation | 57/2622 | 280/18723 | 2.08e-03 | 1.72e-02 | 57 |
| GO:00525474 | Colorectum | FAP | regulation of peptidase activity | 86/2622 | 461/18723 | 2.98e-03 | 2.27e-02 | 86 |
| GO:00458614 | Colorectum | FAP | negative regulation of proteolysis | 68/2622 | 351/18723 | 3.07e-03 | 2.31e-02 | 68 |
| GO:00353153 | Colorectum | FAP | hair cell differentiation | 14/2622 | 47/18723 | 3.95e-03 | 2.75e-02 | 14 |
| GO:1903131 | Colorectum | FAP | mononuclear cell differentiation | 79/2622 | 426/18723 | 5.00e-03 | 3.33e-02 | 79 |
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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 |
| SPINK5 | SNV | Missense_Mutation | rs371134163 | c.2849G>A | p.Arg950Gln | p.R950Q | Q9NQ38 | protein_coding | tolerated(0.25) | possibly_damaging(0.511) | TCGA-A2-A0T1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | herceptin | SD |
| SPINK5 | SNV | Missense_Mutation | novel | c.2058N>G | p.Asp686Glu | p.D686E | Q9NQ38 | protein_coding | tolerated(0.14) | benign(0.281) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| SPINK5 | SNV | Missense_Mutation | novel | c.2687G>C | p.Arg896Thr | p.R896T | Q9NQ38 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A1AJ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SPINK5 | SNV | Missense_Mutation | c.2403N>C | p.Lys801Asn | p.K801N | Q9NQ38 | protein_coding | deleterious(0) | probably_damaging(0.931) | TCGA-BH-A0B5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR | |
| SPINK5 | SNV | Missense_Mutation | novel | c.1436N>T | p.Gln479Leu | p.Q479L | Q9NQ38 | protein_coding | tolerated(0.22) | possibly_damaging(0.661) | TCGA-BH-A0BO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| SPINK5 | SNV | Missense_Mutation | novel | c.1890N>T | p.Glu630Asp | p.E630D | Q9NQ38 | protein_coding | tolerated(1) | benign(0) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
| SPINK5 | SNV | Missense_Mutation | c.538N>C | p.Asp180His | p.D180H | Q9NQ38 | protein_coding | tolerated(0.08) | probably_damaging(0.969) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| SPINK5 | SNV | Missense_Mutation | c.901N>G | p.Gln301Glu | p.Q301E | Q9NQ38 | protein_coding | tolerated(0.56) | benign(0.205) | TCGA-GM-A2DF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR | |
| SPINK5 | insertion | Nonsense_Mutation | novel | c.1874_1875insCTATATATTAACATAAACATTATATGATACAAATAATATCATAT | p.Arg625SerfsTer6 | p.R625Sfs*6 | Q9NQ38 | protein_coding | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| SPINK5 | insertion | Frame_Shift_Ins | novel | c.1956_1957insAGCAAGTGGTGGTTTTCTTGCACCCAATTAAGATTATTAA | p.Val653SerfsTer30 | p.V653Sfs*30 | Q9NQ38 | protein_coding | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
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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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