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Gene: CAPN6 |
Gene summary for CAPN6 |
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Gene information | Species | Human | Gene symbol | CAPN6 | Gene ID | 827 |
Gene name | calpain 6 | |
Gene Alias | CANPX | |
Cytomap | Xq23 | |
Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q9Y6Q1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
827 | CAPN6 | HCC2_Meng | Human | Liver | HCC | 2.40e-16 | 9.92e-02 | 0.0107 |
827 | CAPN6 | S027 | Human | Liver | HCC | 7.21e-09 | 1.28e+00 | 0.2446 |
827 | CAPN6 | S028 | Human | Liver | HCC | 5.31e-30 | 1.88e+00 | 0.2503 |
827 | CAPN6 | S029 | Human | Liver | HCC | 1.48e-19 | 1.43e+00 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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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 |
CAPN6 | SNV | Missense_Mutation | novel | c.1585N>A | p.Glu529Lys | p.E529K | Q9Y6Q1 | protein_coding | tolerated(0.67) | benign(0.03) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CAPN6 | SNV | Missense_Mutation | novel | c.988N>C | p.Phe330Leu | p.F330L | Q9Y6Q1 | protein_coding | tolerated(0.2) | benign(0.291) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CAPN6 | SNV | Missense_Mutation | rs754214263 | c.779N>A | p.Arg260His | p.R260H | Q9Y6Q1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CAPN6 | SNV | Missense_Mutation | c.1315N>A | p.Leu439Ile | p.L439I | Q9Y6Q1 | protein_coding | tolerated(0.19) | benign(0.241) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CAPN6 | SNV | Missense_Mutation | rs758227137 | c.646N>A | p.Gly216Arg | p.G216R | Q9Y6Q1 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CAPN6 | SNV | Missense_Mutation | novel | c.1829N>A | p.Ser610Tyr | p.S610Y | Q9Y6Q1 | protein_coding | deleterious(0.01) | possibly_damaging(0.629) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
CAPN6 | SNV | Missense_Mutation | rs749267304 | c.841N>T | p.Arg281Cys | p.R281C | Q9Y6Q1 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
CAPN6 | SNV | Missense_Mutation | c.1102A>G | p.Met368Val | p.M368V | Q9Y6Q1 | protein_coding | tolerated(0.54) | benign(0.005) | TCGA-B5-A0JZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD | |
CAPN6 | SNV | Missense_Mutation | c.992N>A | p.Cys331Tyr | p.C331Y | Q9Y6Q1 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CAPN6 | SNV | Missense_Mutation | rs759834539 | c.1295N>A | p.Arg432His | p.R432H | Q9Y6Q1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | 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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