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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 | HTA11_3410_2000001011 | Human | Colorectum | AD | 5.33e-04 | 1.55e-01 | 0.0155 |
2010 | EMD | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.89e-07 | 2.87e-01 | -0.1808 |
2010 | EMD | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.87e-02 | 2.79e-01 | 0.0216 |
2010 | EMD | HTA11_1938_2000001011 | Human | Colorectum | AD | 2.62e-02 | 1.92e-01 | -0.0811 |
2010 | EMD | HTA11_347_2000001011 | Human | Colorectum | AD | 9.56e-08 | 2.62e-01 | -0.1954 |
2010 | EMD | HTA11_411_2000001011 | Human | Colorectum | SER | 4.39e-03 | 5.71e-01 | -0.2602 |
2010 | EMD | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.66e-07 | 3.99e-01 | -0.1207 |
2010 | EMD | HTA11_696_2000001011 | Human | Colorectum | AD | 9.34e-11 | 3.22e-01 | -0.1464 |
2010 | EMD | HTA11_866_2000001011 | Human | Colorectum | AD | 9.11e-06 | 1.76e-01 | -0.1001 |
2010 | EMD | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.20e-12 | 4.34e-01 | -0.059 |
2010 | EMD | HTA11_546_2000001011 | Human | Colorectum | AD | 4.12e-04 | 3.86e-01 | -0.0842 |
2010 | EMD | HTA11_866_3004761011 | Human | Colorectum | AD | 7.05e-07 | 3.06e-01 | 0.096 |
2010 | EMD | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.20e-02 | 2.58e-01 | 0.0528 |
2010 | EMD | HTA11_7663_2000001011 | Human | Colorectum | SER | 4.64e-03 | 3.78e-01 | 0.0131 |
2010 | EMD | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.32e-03 | 2.20e-01 | 0.0338 |
2010 | EMD | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.69e-14 | 3.25e-01 | 0.0674 |
2010 | EMD | HTA11_7469_2000001011 | Human | Colorectum | AD | 9.89e-03 | 4.64e-01 | -0.0124 |
2010 | EMD | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.39e-05 | 3.90e-01 | 0.0588 |
2010 | EMD | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.63e-12 | 3.19e-01 | 0.294 |
2010 | EMD | HTA11_99999965104_69814 | Human | Colorectum | MSS | 6.42e-14 | 4.55e-01 | 0.281 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00468251 | Colorectum | SER | regulation of protein export from nucleus | 13/2897 | 30/18723 | 2.52e-04 | 4.23e-03 | 13 |
GO:00468271 | Colorectum | SER | positive regulation of protein export from nucleus | 9/2897 | 17/18723 | 3.72e-04 | 5.73e-03 | 9 |
GO:00434091 | Colorectum | SER | negative regulation of MAPK cascade | 45/2897 | 180/18723 | 5.81e-04 | 7.98e-03 | 45 |
GO:00600701 | Colorectum | SER | canonical Wnt signaling pathway | 66/2897 | 303/18723 | 2.10e-03 | 2.06e-02 | 66 |
GO:0003012 | Colorectum | SER | muscle system process | 92/2897 | 452/18723 | 2.98e-03 | 2.63e-02 | 92 |
GO:00608281 | Colorectum | SER | regulation of canonical Wnt signaling pathway | 56/2897 | 253/18723 | 3.03e-03 | 2.67e-02 | 56 |
GO:19049512 | Colorectum | MSS | positive regulation of establishment of protein localization | 110/3467 | 319/18723 | 6.30e-12 | 9.83e-10 | 110 |
GO:00512222 | Colorectum | MSS | positive regulation of protein transport | 104/3467 | 303/18723 | 3.23e-11 | 4.11e-09 | 104 |
GO:00069132 | Colorectum | MSS | nucleocytoplasmic transport | 99/3467 | 301/18723 | 1.35e-09 | 1.03e-07 | 99 |
GO:00511692 | Colorectum | MSS | nuclear transport | 99/3467 | 301/18723 | 1.35e-09 | 1.03e-07 | 99 |
GO:00903162 | Colorectum | MSS | positive regulation of intracellular protein transport | 60/3467 | 160/18723 | 1.18e-08 | 7.08e-07 | 60 |
GO:00323882 | Colorectum | MSS | positive regulation of intracellular transport | 70/3467 | 202/18723 | 3.32e-08 | 1.82e-06 | 70 |
GO:00331572 | Colorectum | MSS | regulation of intracellular protein transport | 76/3467 | 229/18723 | 7.03e-08 | 3.56e-06 | 76 |
GO:00323862 | Colorectum | MSS | regulation of intracellular transport | 102/3467 | 337/18723 | 9.73e-08 | 4.71e-06 | 102 |
GO:00301112 | Colorectum | MSS | regulation of Wnt signaling pathway | 98/3467 | 328/18723 | 3.37e-07 | 1.36e-05 | 98 |
GO:00160552 | Colorectum | MSS | Wnt signaling pathway | 124/3467 | 444/18723 | 6.06e-07 | 2.26e-05 | 124 |
GO:01987382 | Colorectum | MSS | cell-cell signaling by wnt | 124/3467 | 446/18723 | 7.83e-07 | 2.77e-05 | 124 |
GO:00468222 | Colorectum | MSS | regulation of nucleocytoplasmic transport | 40/3467 | 106/18723 | 2.55e-06 | 7.75e-05 | 40 |
GO:00511682 | Colorectum | MSS | nuclear export | 51/3467 | 154/18723 | 1.01e-05 | 2.43e-04 | 51 |
GO:00600702 | Colorectum | MSS | canonical Wnt signaling pathway | 86/3467 | 303/18723 | 1.58e-05 | 3.56e-04 | 86 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
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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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