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Gene: EMD |
Gene summary for EMD |
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Gene information | Species | Human | Gene symbol | EMD | Gene ID | 2010 |
Gene name | emerin | |
Gene Alias | EDMD | |
Cytomap | Xq28 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | P50402 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2010 | EMD | P10T-E | Human | Esophagus | ESCC | 1.42e-106 | 2.16e+00 | 0.116 |
2010 | EMD | P11T-E | Human | Esophagus | ESCC | 1.25e-33 | 1.28e+00 | 0.1426 |
2010 | EMD | P12T-E | Human | Esophagus | ESCC | 2.56e-90 | 1.61e+00 | 0.1122 |
2010 | EMD | P15T-E | Human | Esophagus | ESCC | 7.07e-51 | 1.22e+00 | 0.1149 |
2010 | EMD | P16T-E | Human | Esophagus | ESCC | 7.77e-54 | 9.21e-01 | 0.1153 |
2010 | EMD | P17T-E | Human | Esophagus | ESCC | 6.56e-18 | 9.18e-01 | 0.1278 |
2010 | EMD | P19T-E | Human | Esophagus | ESCC | 1.49e-19 | 2.18e+00 | 0.1662 |
2010 | EMD | P20T-E | Human | Esophagus | ESCC | 8.22e-62 | 1.44e+00 | 0.1124 |
2010 | EMD | P21T-E | Human | Esophagus | ESCC | 1.38e-98 | 1.91e+00 | 0.1617 |
2010 | EMD | P22T-E | Human | Esophagus | ESCC | 1.31e-121 | 2.40e+00 | 0.1236 |
2010 | EMD | P23T-E | Human | Esophagus | ESCC | 3.50e-82 | 2.70e+00 | 0.108 |
2010 | EMD | P24T-E | Human | Esophagus | ESCC | 5.91e-87 | 1.72e+00 | 0.1287 |
2010 | EMD | P26T-E | Human | Esophagus | ESCC | 2.42e-106 | 2.00e+00 | 0.1276 |
2010 | EMD | P27T-E | Human | Esophagus | ESCC | 3.44e-47 | 9.96e-01 | 0.1055 |
2010 | EMD | P28T-E | Human | Esophagus | ESCC | 2.71e-61 | 1.21e+00 | 0.1149 |
2010 | EMD | P30T-E | Human | Esophagus | ESCC | 8.84e-58 | 1.92e+00 | 0.137 |
2010 | EMD | P31T-E | Human | Esophagus | ESCC | 8.64e-82 | 1.42e+00 | 0.1251 |
2010 | EMD | P32T-E | Human | Esophagus | ESCC | 1.62e-91 | 1.97e+00 | 0.1666 |
2010 | EMD | P36T-E | Human | Esophagus | ESCC | 1.74e-44 | 1.60e+00 | 0.1187 |
2010 | EMD | P37T-E | Human | Esophagus | ESCC | 7.94e-69 | 1.65e+00 | 0.1371 |
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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:00071786 | Cervix | CC | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2311 | 355/18723 | 2.39e-04 | 2.67e-03 | 67 |
GO:00715595 | Cervix | CC | response to transforming growth factor beta | 50/2311 | 256/18723 | 6.31e-04 | 5.91e-03 | 50 |
GO:00715605 | Cervix | CC | cellular response to transforming growth factor beta stimulus | 49/2311 | 250/18723 | 6.55e-04 | 6.05e-03 | 49 |
GO:00071795 | Cervix | CC | transforming growth factor beta receptor signaling pathway | 38/2311 | 198/18723 | 3.62e-03 | 2.31e-02 | 38 |
GO:1904951 | Colorectum | AD | positive regulation of establishment of protein localization | 112/3918 | 319/18723 | 2.55e-09 | 1.80e-07 | 112 |
GO:0051222 | Colorectum | AD | positive regulation of protein transport | 106/3918 | 303/18723 | 8.45e-09 | 5.08e-07 | 106 |
GO:0006913 | Colorectum | AD | nucleocytoplasmic transport | 102/3918 | 301/18723 | 1.00e-07 | 4.85e-06 | 102 |
GO:0051169 | Colorectum | AD | nuclear transport | 102/3918 | 301/18723 | 1.00e-07 | 4.85e-06 | 102 |
GO:0090316 | Colorectum | AD | positive regulation of intracellular protein transport | 62/3918 | 160/18723 | 1.82e-07 | 7.79e-06 | 62 |
GO:0032388 | Colorectum | AD | positive regulation of intracellular transport | 74/3918 | 202/18723 | 1.83e-07 | 7.80e-06 | 74 |
GO:0032386 | Colorectum | AD | regulation of intracellular transport | 109/3918 | 337/18723 | 5.33e-07 | 1.95e-05 | 109 |
GO:0033157 | Colorectum | AD | regulation of intracellular protein transport | 80/3918 | 229/18723 | 5.81e-07 | 2.09e-05 | 80 |
GO:0030111 | Colorectum | AD | regulation of Wnt signaling pathway | 102/3918 | 328/18723 | 8.51e-06 | 2.03e-04 | 102 |
GO:0016055 | Colorectum | AD | Wnt signaling pathway | 130/3918 | 444/18723 | 1.60e-05 | 3.37e-04 | 130 |
GO:0198738 | Colorectum | AD | cell-cell signaling by wnt | 130/3918 | 446/18723 | 2.02e-05 | 4.10e-04 | 130 |
GO:0046822 | Colorectum | AD | regulation of nucleocytoplasmic transport | 41/3918 | 106/18723 | 2.17e-05 | 4.33e-04 | 41 |
GO:0046824 | Colorectum | AD | positive regulation of nucleocytoplasmic transport | 27/3918 | 62/18723 | 4.91e-05 | 8.43e-04 | 27 |
GO:0051168 | Colorectum | AD | nuclear export | 53/3918 | 154/18723 | 6.89e-05 | 1.11e-03 | 53 |
GO:0060070 | Colorectum | AD | canonical Wnt signaling pathway | 90/3918 | 303/18723 | 1.76e-04 | 2.38e-03 | 90 |
GO:0060828 | Colorectum | AD | regulation of canonical Wnt signaling pathway | 77/3918 | 253/18723 | 2.19e-04 | 2.87e-03 | 77 |
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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 |
EMD | SNV | Missense_Mutation | c.700G>T | p.Val234Phe | p.V234F | P50402 | protein_coding | deleterious(0.02) | benign(0.235) | TCGA-AN-A0AM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
EMD | SNV | Missense_Mutation | c.173N>G | p.Ser58Cys | p.S58C | P50402 | protein_coding | tolerated(0.07) | possibly_damaging(0.75) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
EMD | SNV | Missense_Mutation | c.720N>A | p.Phe240Leu | p.F240L | P50402 | protein_coding | tolerated(1) | benign(0) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD | |
EMD | SNV | Missense_Mutation | rs782057378 | c.662N>A | p.Arg221His | p.R221H | P50402 | protein_coding | deleterious(0) | benign(0) | TCGA-AA-3662-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | capecitabine | PR |
EMD | SNV | Missense_Mutation | c.661C>T | p.Arg221Cys | p.R221C | P50402 | protein_coding | deleterious(0) | benign(0.441) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
EMD | SNV | Missense_Mutation | c.146N>T | p.Ser49Leu | p.S49L | P50402 | protein_coding | tolerated(0.12) | benign(0.005) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
EMD | SNV | Missense_Mutation | novel | c.407A>C | p.Asp136Ala | p.D136A | P50402 | protein_coding | tolerated(0.05) | benign(0.003) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
EMD | SNV | Missense_Mutation | c.610C>A | p.Arg204Ser | p.R204S | P50402 | protein_coding | deleterious(0.01) | benign(0.182) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
EMD | SNV | Missense_Mutation | c.752G>T | p.Gly251Val | p.G251V | P50402 | protein_coding | deleterious(0.01) | benign(0.298) | TCGA-AF-A56N-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | xeloda | CR | |
EMD | SNV | Missense_Mutation | rs782768362 | c.385N>A | p.Ala129Thr | p.A129T | P50402 | protein_coding | tolerated(1) | benign(0) | TCGA-EI-6508-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | 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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