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Gene: KAZN |
Gene summary for KAZN |
Gene summary. |
Gene information | Species | Human | Gene symbol | KAZN | Gene ID | 23254 |
Gene name | kazrin, periplakin interacting protein | |
Gene Alias | C1orf196 | |
Cytomap | 1p36.21 | |
Gene Type | protein-coding | GO ID | GO:0007275 | UniProtAcc | Q674X7 |
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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 |
23254 | KAZN | CA_HPV_1 | Human | Cervix | CC | 1.95e-08 | -1.94e-01 | 0.0264 |
23254 | KAZN | CCI_2 | Human | Cervix | CC | 6.33e-11 | 1.45e+00 | 0.5249 |
23254 | KAZN | CCI_3 | Human | Cervix | CC | 7.16e-08 | 6.72e-01 | 0.516 |
23254 | KAZN | HTA11_3410_2000001011 | Human | Colorectum | AD | 9.97e-04 | -3.34e-01 | 0.0155 |
23254 | KAZN | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.11e-02 | -2.35e-01 | -0.1808 |
23254 | KAZN | HTA11_347_2000001011 | Human | Colorectum | AD | 9.44e-20 | 9.67e-01 | -0.1954 |
23254 | KAZN | HTA11_411_2000001011 | Human | Colorectum | SER | 3.44e-03 | 2.16e-01 | -0.2602 |
23254 | KAZN | HTA11_83_2000001011 | Human | Colorectum | SER | 2.18e-02 | 1.84e-01 | -0.1526 |
23254 | KAZN | HTA11_696_2000001011 | Human | Colorectum | AD | 5.73e-08 | 5.03e-01 | -0.1464 |
23254 | KAZN | HTA11_866_2000001011 | Human | Colorectum | AD | 5.12e-08 | 5.25e-01 | -0.1001 |
23254 | KAZN | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.88e-17 | 4.91e-01 | -0.1706 |
23254 | KAZN | HTA11_546_2000001011 | Human | Colorectum | AD | 1.09e-10 | 7.83e-01 | -0.0842 |
23254 | KAZN | HTA11_7663_2000001011 | Human | Colorectum | SER | 8.76e-07 | 6.82e-01 | 0.0131 |
23254 | KAZN | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.38e-02 | -1.06e-01 | 0.294 |
23254 | KAZN | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 1.16e-02 | -6.68e-01 | 0.3487 |
23254 | KAZN | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.39e-12 | 8.84e-01 | 0.281 |
23254 | KAZN | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.07e-05 | -1.59e-01 | 0.3859 |
23254 | KAZN | HTA11_99999973899_84307 | Human | Colorectum | MSS | 4.92e-17 | -9.64e-01 | 0.2585 |
23254 | KAZN | HTA11_99999974143_84620 | Human | Colorectum | MSS | 4.69e-27 | -7.52e-01 | 0.3005 |
23254 | KAZN | F007 | Human | Colorectum | FAP | 3.72e-13 | -6.68e-01 | 0.1176 |
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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 |
Breast | Precancer | |
Breast | IDC | |
Breast | DCIS | |
Cervix | CC | |
Cervix | HSIL_HPV |
∗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:00085446 | Cervix | CC | epidermis development | 83/2311 | 324/18723 | 3.91e-11 | 8.54e-09 | 83 |
GO:00435884 | Cervix | CC | skin development | 71/2311 | 263/18723 | 8.04e-11 | 1.46e-08 | 71 |
GO:00302164 | Cervix | CC | keratinocyte differentiation | 42/2311 | 139/18723 | 1.74e-08 | 1.28e-06 | 42 |
GO:00099137 | Cervix | CC | epidermal cell differentiation | 53/2311 | 202/18723 | 5.48e-08 | 3.25e-06 | 53 |
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:00099131 | Colorectum | MSS | epidermal cell differentiation | 52/3467 | 202/18723 | 6.59e-03 | 4.38e-02 | 52 |
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:00099132 | Colorectum | FAP | epidermal cell differentiation | 42/2622 | 202/18723 | 5.08e-03 | 3.37e-02 | 42 |
GO:00085442 | Colorectum | CRC | epidermis development | 57/2078 | 324/18723 | 2.88e-04 | 4.59e-03 | 57 |
GO:00435881 | Colorectum | CRC | skin development | 47/2078 | 263/18723 | 6.63e-04 | 8.74e-03 | 47 |
GO:00099133 | Colorectum | CRC | epidermal cell differentiation | 37/2078 | 202/18723 | 1.50e-03 | 1.59e-02 | 37 |
GO:00435885 | Endometrium | AEH | skin development | 45/2100 | 263/18723 | 2.58e-03 | 1.90e-02 | 45 |
GO:00085447 | Endometrium | AEH | epidermis development | 52/2100 | 324/18723 | 5.00e-03 | 3.14e-02 | 52 |
GO:004358814 | Endometrium | EEC | skin development | 45/2168 | 263/18723 | 4.69e-03 | 2.99e-02 | 45 |
GO:000854414 | Endometrium | EEC | epidermis development | 53/2168 | 324/18723 | 5.92e-03 | 3.54e-02 | 53 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:000991310 | Esophagus | ESCC | epidermal cell differentiation | 122/8552 | 202/18723 | 1.69e-05 | 1.51e-04 | 122 |
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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 |
KAZN | SNV | Missense_Mutation | novel | c.819G>T | p.Glu273Asp | p.E273D | Q674X7 | protein_coding | deleterious(0.02) | probably_damaging(0.97) | TCGA-PL-A8LV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
KAZN | insertion | Frame_Shift_Ins | novel | c.382_383insCAGCCAGGCCTTGGTTCAATTCCCAGCTCTGCTATGTACTAACTTT | p.Glu128AlafsTer32 | p.E128Afs*32 | Q674X7 | protein_coding | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD | ||
KAZN | insertion | In_Frame_Ins | novel | c.1977_1978insTCTCATGCAAATCAATGGGCAAATCCCACACAA | p.Gly659_Ile660insSerHisAlaAsnGlnTrpAlaAsnProThrGln | p.G659_I660insSHANQWANPTQ | Q674X7 | protein_coding | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | ||
KAZN | SNV | Missense_Mutation | c.31C>T | p.Arg11Cys | p.R11C | Q674X7 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
KAZN | SNV | Missense_Mutation | novel | c.1516N>A | p.Glu506Lys | p.E506K | Q674X7 | protein_coding | deleterious(0) | possibly_damaging(0.59) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
KAZN | SNV | Missense_Mutation | rs746172858 | c.1534N>A | p.Glu512Lys | p.E512K | Q674X7 | protein_coding | tolerated(0.13) | benign(0.122) | TCGA-HM-A3JK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
KAZN | SNV | Missense_Mutation | c.7N>A | p.Glu3Lys | p.E3K | Q674X7 | protein_coding | deleterious(0.01) | possibly_damaging(0.522) | TCGA-IR-A3LB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
KAZN | SNV | Missense_Mutation | rs773002622 | c.979G>A | p.Glu327Lys | p.E327K | Q674X7 | protein_coding | tolerated(0.11) | possibly_damaging(0.678) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
KAZN | SNV | Missense_Mutation | rs746895199 | c.521N>A | p.Arg174Gln | p.R174Q | Q674X7 | protein_coding | deleterious(0) | possibly_damaging(0.704) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KAZN | SNV | Missense_Mutation | novel | c.244G>T | p.Ala82Ser | p.A82S | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.949) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | 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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