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Gene: KAZALD1 |
Gene summary for KAZALD1 |
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Gene information | Species | Human | Gene symbol | KAZALD1 | Gene ID | 81621 |
Gene name | Kazal type serine peptidase inhibitor domain 1 | |
Gene Alias | BONO1 | |
Cytomap | 10q24.31 | |
Gene Type | protein-coding | GO ID | GO:0001503 | UniProtAcc | Q96I82 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
81621 | KAZALD1 | ATC13 | Human | Thyroid | ATC | 1.12e-33 | 6.39e-01 | 0.34 |
81621 | KAZALD1 | ATC5 | Human | Thyroid | ATC | 4.37e-34 | 6.93e-01 | 0.34 |
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Tissue | Expression Dynamics | Abbreviation |
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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001604927 | Thyroid | ATC | cell growth | 241/6293 | 482/18723 | 4.27e-14 | 2.35e-12 | 241 |
GO:000150332 | Thyroid | ATC | ossification | 206/6293 | 408/18723 | 9.23e-13 | 3.95e-11 | 206 |
GO:000155826 | Thyroid | ATC | regulation of cell growth | 201/6293 | 414/18723 | 1.57e-10 | 4.76e-09 | 201 |
GO:003019812 | Thyroid | ATC | extracellular matrix organization | 152/6293 | 301/18723 | 8.63e-10 | 2.24e-08 | 152 |
GO:004306212 | Thyroid | ATC | extracellular structure organization | 152/6293 | 302/18723 | 1.17e-09 | 2.94e-08 | 152 |
GO:004522912 | Thyroid | ATC | external encapsulating structure organization | 152/6293 | 304/18723 | 2.11e-09 | 5.08e-08 | 152 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
KAZALD1 | SNV | Missense_Mutation | c.596C>G | p.Pro199Arg | p.P199R | Q96I82 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1NI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR | |
KAZALD1 | SNV | Missense_Mutation | rs771851844 | c.766N>T | p.Arg256Cys | p.R256C | Q96I82 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KAZALD1 | SNV | Missense_Mutation | rs183547624 | c.904N>A | p.Asp302Asn | p.D302N | Q96I82 | protein_coding | deleterious(0.02) | possibly_damaging(0.632) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
KAZALD1 | SNV | Missense_Mutation | novel | c.868G>T | p.Val290Phe | p.V290F | Q96I82 | protein_coding | tolerated(0.7) | benign(0) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
KAZALD1 | SNV | Missense_Mutation | rs183547624 | c.904G>A | p.Asp302Asn | p.D302N | Q96I82 | protein_coding | deleterious(0.02) | possibly_damaging(0.632) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
KAZALD1 | SNV | Missense_Mutation | novel | c.34N>A | p.Ala12Thr | p.A12T | Q96I82 | protein_coding | tolerated(0.61) | benign(0) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KAZALD1 | SNV | Missense_Mutation | rs183547624 | c.904N>A | p.Asp302Asn | p.D302N | Q96I82 | protein_coding | deleterious(0.02) | possibly_damaging(0.632) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
KAZALD1 | SNV | Missense_Mutation | novel | c.493N>A | p.Pro165Thr | p.P165T | Q96I82 | protein_coding | tolerated(0.27) | benign(0.084) | TCGA-55-7907-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
KAZALD1 | SNV | Missense_Mutation | novel | c.690G>C | p.Gln230His | p.Q230H | Q96I82 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-55-7913-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
KAZALD1 | SNV | Missense_Mutation | novel | c.481A>T | p.Thr161Ser | p.T161S | Q96I82 | protein_coding | tolerated(0.81) | benign(0.007) | TCGA-78-7155-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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