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Gene: CARNS1 |
Gene summary for CARNS1 |
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Gene information | Species | Human | Gene symbol | CARNS1 | Gene ID | 57571 |
Gene name | carnosine synthase 1 | |
Gene Alias | ATPGD1 | |
Cytomap | 11q13.2 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | A5YM72 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57571 | CARNS1 | male-WTA | Human | Thyroid | PTC | 7.46e-25 | 3.31e-01 | 0.1037 |
57571 | CARNS1 | PTC01 | Human | Thyroid | PTC | 1.27e-06 | 1.17e-01 | 0.1899 |
57571 | CARNS1 | PTC04 | Human | Thyroid | PTC | 1.08e-05 | 1.86e-01 | 0.1927 |
57571 | CARNS1 | PTC05 | Human | Thyroid | PTC | 7.32e-11 | 5.42e-01 | 0.2065 |
57571 | CARNS1 | PTC06 | Human | Thyroid | PTC | 8.59e-20 | 5.28e-01 | 0.2057 |
57571 | CARNS1 | PTC07 | Human | Thyroid | PTC | 3.32e-12 | 3.34e-01 | 0.2044 |
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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 |
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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 |
CARNS1 | SNV | Missense_Mutation | rs780435597 | c.533G>T | p.Gly178Val | p.G178V | A5YM72 | protein_coding | tolerated(0.1) | benign(0.124) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
CARNS1 | SNV | Missense_Mutation | rs747519720 | c.2291N>T | p.Ala764Val | p.A764V | A5YM72 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CARNS1 | SNV | Missense_Mutation | novel | c.2497N>C | p.Asp833His | p.D833H | A5YM72 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A6IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CARNS1 | SNV | Missense_Mutation | c.2051N>T | p.Gly684Val | p.G684V | A5YM72 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CARNS1 | SNV | Missense_Mutation | novel | c.626T>C | p.Leu209Pro | p.L209P | A5YM72 | protein_coding | deleterious(0.03) | possibly_damaging(0.906) | TCGA-BH-A1FL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CARNS1 | SNV | Missense_Mutation | c.482N>A | p.Thr161Lys | p.T161K | A5YM72 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C8-A135-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
CARNS1 | SNV | Missense_Mutation | rs780435597 | c.533G>T | p.Gly178Val | p.G178V | A5YM72 | protein_coding | tolerated(0.1) | benign(0.124) | TCGA-E9-A295-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
CARNS1 | SNV | Missense_Mutation | novel | c.143N>C | p.Leu48Pro | p.L48P | A5YM72 | protein_coding | tolerated(0.15) | probably_damaging(0.944) | TCGA-EW-A6SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tch | SD |
CARNS1 | SNV | Missense_Mutation | novel | c.172N>A | p.Glu58Lys | p.E58K | A5YM72 | protein_coding | tolerated(0.29) | benign(0.039) | TCGA-LL-A6FP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
CARNS1 | SNV | Missense_Mutation | novel | c.115N>T | p.Pro39Ser | p.P39S | A5YM72 | protein_coding | tolerated_low_confidence(0.36) | benign(0.015) | TCGA-OL-A5D8-01 | Breast | breast invasive carcinoma | 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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