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Gene: LMNA |
Gene summary for LMNA |
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Gene information | Species | Human | Gene symbol | LMNA | Gene ID | 4000 |
Gene name | lamin A/C | |
Gene Alias | CDCD1 | |
Cytomap | 1q22 | |
Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | P02545 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4000 | LMNA | GSM4909282 | Human | Breast | IDC | 2.01e-11 | 3.94e-01 | -0.0288 |
4000 | LMNA | GSM4909287 | Human | Breast | IDC | 3.68e-05 | 2.31e-01 | 0.2057 |
4000 | LMNA | GSM4909288 | Human | Breast | IDC | 8.50e-03 | -9.63e-02 | 0.0988 |
4000 | LMNA | GSM4909291 | Human | Breast | IDC | 3.37e-07 | 3.98e-01 | 0.1753 |
4000 | LMNA | GSM4909294 | Human | Breast | IDC | 1.18e-08 | -5.17e-01 | 0.2022 |
4000 | LMNA | GSM4909295 | Human | Breast | IDC | 4.43e-20 | 6.19e-01 | 0.0898 |
4000 | LMNA | GSM4909296 | Human | Breast | IDC | 1.15e-11 | -4.52e-01 | 0.1524 |
4000 | LMNA | GSM4909297 | Human | Breast | IDC | 1.62e-16 | -1.18e-01 | 0.1517 |
4000 | LMNA | GSM4909299 | Human | Breast | IDC | 1.01e-08 | 3.54e-01 | 0.035 |
4000 | LMNA | GSM4909300 | Human | Breast | IDC | 3.16e-14 | 5.43e-01 | 0.0334 |
4000 | LMNA | GSM4909301 | Human | Breast | IDC | 4.05e-13 | -5.63e-01 | 0.1577 |
4000 | LMNA | GSM4909302 | Human | Breast | IDC | 1.13e-03 | -3.31e-01 | 0.1545 |
4000 | LMNA | GSM4909304 | Human | Breast | IDC | 1.14e-06 | -4.23e-01 | 0.1636 |
4000 | LMNA | GSM4909308 | Human | Breast | IDC | 2.04e-05 | 3.45e-01 | 0.158 |
4000 | LMNA | GSM4909309 | Human | Breast | IDC | 2.93e-03 | 8.91e-02 | 0.0483 |
4000 | LMNA | GSM4909311 | Human | Breast | IDC | 2.12e-42 | -4.36e-01 | 0.1534 |
4000 | LMNA | GSM4909312 | Human | Breast | IDC | 1.23e-07 | -6.33e-02 | 0.1552 |
4000 | LMNA | GSM4909313 | Human | Breast | IDC | 2.02e-29 | 5.57e-01 | 0.0391 |
4000 | LMNA | GSM4909317 | Human | Breast | IDC | 1.82e-11 | 4.35e-01 | 0.1355 |
4000 | LMNA | GSM4909319 | Human | Breast | IDC | 3.08e-54 | -1.04e-01 | 0.1563 |
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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:005114611 | Breast | DCIS | striated muscle cell differentiation | 33/1390 | 283/18723 | 6.63e-03 | 4.62e-02 | 33 |
GO:001046311 | Breast | DCIS | mesenchymal cell proliferation | 8/1390 | 39/18723 | 7.00e-03 | 4.79e-02 | 8 |
GO:200123310 | Cervix | CC | regulation of apoptotic signaling pathway | 96/2311 | 356/18723 | 4.08e-14 | 3.05e-11 | 96 |
GO:00071639 | Cervix | CC | establishment or maintenance of cell polarity | 63/2311 | 218/18723 | 4.25e-11 | 8.76e-09 | 63 |
GO:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:00069139 | Cervix | CC | nucleocytoplasmic transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511699 | Cervix | CC | nuclear transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00345048 | Cervix | CC | protein localization to nucleus | 68/2311 | 290/18723 | 9.91e-08 | 5.25e-06 | 68 |
GO:200123410 | Cervix | CC | negative regulation of apoptotic signaling pathway | 56/2311 | 224/18723 | 1.39e-07 | 6.70e-06 | 56 |
GO:00075689 | Cervix | CC | aging | 75/2311 | 339/18723 | 2.75e-07 | 1.13e-05 | 75 |
GO:009719110 | Cervix | CC | extrinsic apoptotic signaling pathway | 52/2311 | 219/18723 | 2.06e-06 | 6.34e-05 | 52 |
GO:00170388 | Cervix | CC | protein import | 48/2311 | 206/18723 | 8.62e-06 | 1.98e-04 | 48 |
GO:003164710 | Cervix | CC | regulation of protein stability | 63/2311 | 298/18723 | 1.14e-05 | 2.45e-04 | 63 |
GO:00075695 | Cervix | CC | cell aging | 34/2311 | 132/18723 | 1.92e-05 | 3.53e-04 | 34 |
GO:200123610 | Cervix | CC | regulation of extrinsic apoptotic signaling pathway | 37/2311 | 151/18723 | 2.80e-05 | 4.65e-04 | 37 |
GO:00511707 | Cervix | CC | import into nucleus | 38/2311 | 159/18723 | 3.98e-05 | 6.18e-04 | 38 |
GO:00066067 | Cervix | CC | protein import into nucleus | 37/2311 | 155/18723 | 5.13e-05 | 7.71e-04 | 37 |
GO:00106399 | Cervix | CC | negative regulation of organelle organization | 68/2311 | 348/18723 | 7.40e-05 | 1.03e-03 | 68 |
GO:00605375 | Cervix | CC | muscle tissue development | 76/2311 | 403/18723 | 9.76e-05 | 1.27e-03 | 76 |
GO:000166610 | Cervix | CC | response to hypoxia | 61/2311 | 307/18723 | 1.04e-04 | 1.34e-03 | 61 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa042108 | Breast | Precancer | Apoptosis | 25/684 | 136/8465 | 7.61e-05 | 6.87e-04 | 5.26e-04 | 25 |
hsa0421013 | Breast | Precancer | Apoptosis | 25/684 | 136/8465 | 7.61e-05 | 6.87e-04 | 5.26e-04 | 25 |
hsa0421022 | Breast | IDC | Apoptosis | 31/867 | 136/8465 | 1.34e-05 | 1.61e-04 | 1.20e-04 | 31 |
hsa0421032 | Breast | IDC | Apoptosis | 31/867 | 136/8465 | 1.34e-05 | 1.61e-04 | 1.20e-04 | 31 |
hsa0421041 | Breast | DCIS | Apoptosis | 29/846 | 136/8465 | 5.92e-05 | 5.97e-04 | 4.40e-04 | 29 |
hsa0421051 | Breast | DCIS | Apoptosis | 29/846 | 136/8465 | 5.92e-05 | 5.97e-04 | 4.40e-04 | 29 |
hsa042109 | Cervix | CC | Apoptosis | 36/1267 | 136/8465 | 3.21e-04 | 1.68e-03 | 9.91e-04 | 36 |
hsa0421014 | Cervix | CC | Apoptosis | 36/1267 | 136/8465 | 3.21e-04 | 1.68e-03 | 9.91e-04 | 36 |
hsa0421023 | Cervix | HSIL_HPV | Apoptosis | 16/459 | 136/8465 | 2.74e-03 | 1.78e-02 | 1.44e-02 | 16 |
hsa054127 | Cervix | HSIL_HPV | Arrhythmogenic right ventricular cardiomyopathy | 10/459 | 77/8465 | 8.34e-03 | 4.70e-02 | 3.80e-02 | 10 |
hsa0421033 | Cervix | HSIL_HPV | Apoptosis | 16/459 | 136/8465 | 2.74e-03 | 1.78e-02 | 1.44e-02 | 16 |
hsa0541212 | Cervix | HSIL_HPV | Arrhythmogenic right ventricular cardiomyopathy | 10/459 | 77/8465 | 8.34e-03 | 4.70e-02 | 3.80e-02 | 10 |
hsa04210 | Colorectum | MSS | Apoptosis | 44/1875 | 136/8465 | 3.66e-03 | 1.66e-02 | 1.01e-02 | 44 |
hsa042101 | Colorectum | MSS | Apoptosis | 44/1875 | 136/8465 | 3.66e-03 | 1.66e-02 | 1.01e-02 | 44 |
hsa05412 | Colorectum | FAP | Arrhythmogenic right ventricular cardiomyopathy | 23/1404 | 77/8465 | 2.58e-03 | 1.19e-02 | 7.23e-03 | 23 |
hsa054121 | Colorectum | FAP | Arrhythmogenic right ventricular cardiomyopathy | 23/1404 | 77/8465 | 2.58e-03 | 1.19e-02 | 7.23e-03 | 23 |
hsa0421020 | Esophagus | HGIN | Apoptosis | 36/1383 | 136/8465 | 1.67e-03 | 1.52e-02 | 1.20e-02 | 36 |
hsa04210110 | Esophagus | HGIN | Apoptosis | 36/1383 | 136/8465 | 1.67e-03 | 1.52e-02 | 1.20e-02 | 36 |
hsa0421027 | Esophagus | ESCC | Apoptosis | 102/4205 | 136/8465 | 1.05e-09 | 1.21e-08 | 6.21e-09 | 102 |
hsa0421037 | Esophagus | ESCC | Apoptosis | 102/4205 | 136/8465 | 1.05e-09 | 1.21e-08 | 6.21e-09 | 102 |
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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 |
LMNA | SNV | Missense_Mutation | novel | c.1700N>T | p.Gly567Val | p.G567V | P02545 | protein_coding | tolerated(0.28) | benign(0.272) | TCGA-A2-A4RX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LMNA | SNV | Missense_Mutation | novel | c.1660N>A | p.Glu554Lys | p.E554K | P02545 | protein_coding | deleterious(0.01) | benign(0.132) | TCGA-E2-A15P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
LMNA | SNV | Missense_Mutation | rs267607571 | c.569N>A | p.Arg190Gln | p.R190Q | P02545 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E2-A1L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
LMNA | SNV | Missense_Mutation | rs794728602 | c.250N>A | p.Glu84Lys | p.E84K | P02545 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
LMNA | SNV | Missense_Mutation | novel | c.1498N>T | p.Ala500Ser | p.A500S | P02545 | protein_coding | tolerated(0.53) | benign(0.006) | TCGA-PE-A5DD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | CR | |
LMNA | SNV | Missense_Mutation | rs397517912 | c.868N>A | p.Glu290Lys | p.E290K | P02545 | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-VS-A9UD-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
LMNA | SNV | Missense_Mutation | rs760743233 | c.466C>T | p.Arg156Cys | p.R156C | P02545 | protein_coding | deleterious(0) | benign(0.381) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
LMNA | SNV | Missense_Mutation | rs397517913 | c.986N>A | p.Arg329His | p.R329H | P02545 | protein_coding | tolerated(0.13) | benign(0.111) | TCGA-D5-6530-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
LMNA | SNV | Missense_Mutation | rs397517895 | c.154N>G | p.Leu52Val | p.L52V | P02545 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LMNA | SNV | Missense_Mutation | rs200466188 | c.1487N>T | p.Thr496Met | p.T496M | P02545 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AG-3731-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folinic | PR |
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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 |
4000 | LMNA | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | HISTAMINE | HISTAMINE | ||
4000 | LMNA | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | SU-4312 | CHEMBL328710 |
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