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Gene: KAZN |
Gene summary for KAZN |
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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 |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
23254 | KAZN | P76T-E | Human | Esophagus | ESCC | 3.47e-11 | 2.27e-01 | 0.1207 |
23254 | KAZN | P79T-E | Human | Esophagus | ESCC | 3.64e-02 | 2.78e-03 | 0.1154 |
23254 | KAZN | P80T-E | Human | Esophagus | ESCC | 8.39e-27 | 3.02e-01 | 0.155 |
23254 | KAZN | P82T-E | Human | Esophagus | ESCC | 2.28e-06 | 3.08e-01 | 0.1072 |
23254 | KAZN | P83T-E | Human | Esophagus | ESCC | 3.40e-03 | 5.80e-02 | 0.1738 |
23254 | KAZN | P84T-E | Human | Esophagus | ESCC | 9.89e-04 | 1.89e-01 | 0.0933 |
23254 | KAZN | P107T-E | Human | Esophagus | ESCC | 1.16e-10 | 1.72e-01 | 0.171 |
23254 | KAZN | P127T-E | Human | Esophagus | ESCC | 3.14e-10 | 2.02e-01 | 0.0826 |
23254 | KAZN | P128T-E | Human | Esophagus | ESCC | 6.56e-10 | 3.81e-01 | 0.1241 |
23254 | KAZN | P130T-E | Human | Esophagus | ESCC | 7.77e-28 | 6.10e-01 | 0.1676 |
23254 | KAZN | RNA-P10T2-P10T2-3 | Human | Lung | AAH | 5.95e-04 | 6.67e-01 | -0.1408 |
23254 | KAZN | RNA-P10T2-P10T2-4 | Human | Lung | AAH | 8.52e-06 | 9.05e-01 | -0.138 |
23254 | KAZN | RNA-P17T-P17T-6 | Human | Lung | IAC | 4.71e-02 | 4.18e-01 | 0.3385 |
23254 | KAZN | RNA-P23T2-P23T2-1 | Human | Lung | MIAC | 5.30e-08 | 1.17e+00 | -0.037 |
23254 | KAZN | RNA-P23T2-P23T2-2 | Human | Lung | MIAC | 4.73e-13 | 1.41e+00 | -0.028 |
23254 | KAZN | RNA-P23T2-P23T2-4 | Human | Lung | MIAC | 6.04e-07 | 1.15e+00 | -0.0272 |
23254 | KAZN | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 1.44e-06 | 4.56e-01 | -0.2116 |
23254 | KAZN | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 3.10e-04 | 4.34e-01 | -0.2119 |
23254 | KAZN | RNA-P3T-P3T-1 | Human | Lung | IAC | 1.17e-04 | 4.50e-01 | 0.1829 |
23254 | KAZN | RNA-P3T-P3T-2 | Human | Lung | IAC | 2.75e-06 | 4.87e-01 | 0.1835 |
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∗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: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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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 |
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 |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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