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Gene: ERN1 |
Gene summary for ERN1 |
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Gene information | Species | Human | Gene symbol | ERN1 | Gene ID | 2081 |
Gene name | endoplasmic reticulum to nucleus signaling 1 | |
Gene Alias | IRE1 | |
Cytomap | 17q23.3 | |
Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | O75460 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2081 | ERN1 | AEH-subject1 | Human | Endometrium | AEH | 1.68e-09 | 4.40e-01 | -0.3059 |
2081 | ERN1 | AEH-subject2 | Human | Endometrium | AEH | 3.15e-03 | 2.35e-01 | -0.2525 |
2081 | ERN1 | AEH-subject3 | Human | Endometrium | AEH | 7.23e-05 | 2.55e-01 | -0.2576 |
2081 | ERN1 | AEH-subject4 | Human | Endometrium | AEH | 7.38e-03 | 2.73e-01 | -0.2657 |
2081 | ERN1 | AEH-subject5 | Human | Endometrium | AEH | 1.21e-03 | 3.06e-01 | -0.2953 |
2081 | ERN1 | EEC-subject1 | Human | Endometrium | EEC | 1.01e-16 | 5.13e-01 | -0.2682 |
2081 | ERN1 | EEC-subject2 | Human | Endometrium | EEC | 8.10e-03 | 1.70e-01 | -0.2607 |
2081 | ERN1 | EEC-subject3 | Human | Endometrium | EEC | 1.34e-03 | 1.11e-01 | -0.2525 |
2081 | ERN1 | EEC-subject4 | Human | Endometrium | EEC | 9.60e-04 | 3.31e-01 | -0.2571 |
2081 | ERN1 | GSM5276934 | Human | Endometrium | EEC | 3.83e-04 | 2.38e-01 | -0.0913 |
2081 | ERN1 | GSM5276937 | Human | Endometrium | EEC | 1.01e-14 | 5.09e-01 | -0.0897 |
2081 | ERN1 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 7.28e-05 | -1.23e-01 | -0.1869 |
2081 | ERN1 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 6.52e-06 | -1.45e-01 | -0.1875 |
2081 | ERN1 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 9.10e-09 | -8.05e-02 | -0.1883 |
2081 | ERN1 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 4.43e-06 | -3.25e-02 | -0.1934 |
2081 | ERN1 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 3.94e-09 | -2.11e-01 | -0.1917 |
2081 | ERN1 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 1.04e-10 | -1.75e-01 | -0.1916 |
2081 | ERN1 | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 8.69e-06 | -1.62e-01 | -0.1269 |
2081 | ERN1 | LZE4T | Human | Esophagus | ESCC | 4.64e-03 | 1.19e-01 | 0.0811 |
2081 | ERN1 | LZE22D1 | Human | Esophagus | HGIN | 8.52e-04 | 1.92e-01 | 0.0595 |
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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:000838016 | Endometrium | AEH | RNA splicing | 111/2100 | 434/18723 | 2.42e-17 | 1.12e-14 | 111 |
GO:004348416 | Endometrium | AEH | regulation of RNA splicing | 55/2100 | 148/18723 | 1.28e-16 | 5.49e-14 | 55 |
GO:009719316 | Endometrium | AEH | intrinsic apoptotic signaling pathway | 75/2100 | 288/18723 | 1.46e-12 | 2.83e-10 | 75 |
GO:000640210 | Endometrium | AEH | mRNA catabolic process | 59/2100 | 232/18723 | 9.51e-10 | 8.52e-08 | 59 |
GO:000974316 | Endometrium | AEH | response to carbohydrate | 62/2100 | 253/18723 | 1.76e-09 | 1.51e-07 | 62 |
GO:000697916 | Endometrium | AEH | response to oxidative stress | 93/2100 | 446/18723 | 1.94e-09 | 1.64e-07 | 93 |
GO:003428416 | Endometrium | AEH | response to monosaccharide | 57/2100 | 225/18723 | 2.13e-09 | 1.77e-07 | 57 |
GO:003497616 | Endometrium | AEH | response to endoplasmic reticulum stress | 62/2100 | 256/18723 | 2.88e-09 | 2.13e-07 | 62 |
GO:000974615 | Endometrium | AEH | response to hexose | 54/2100 | 219/18723 | 1.54e-08 | 9.72e-07 | 54 |
GO:000030216 | Endometrium | AEH | response to reactive oxygen species | 54/2100 | 222/18723 | 2.54e-08 | 1.49e-06 | 54 |
GO:000640110 | Endometrium | AEH | RNA catabolic process | 63/2100 | 278/18723 | 3.28e-08 | 1.87e-06 | 63 |
GO:000974910 | Endometrium | AEH | response to glucose | 52/2100 | 212/18723 | 3.40e-08 | 1.91e-06 | 52 |
GO:006219716 | Endometrium | AEH | cellular response to chemical stress | 71/2100 | 337/18723 | 1.03e-07 | 5.05e-06 | 71 |
GO:00016789 | Endometrium | AEH | cellular glucose homeostasis | 44/2100 | 172/18723 | 1.04e-07 | 5.07e-06 | 44 |
GO:00331209 | Endometrium | AEH | positive regulation of RNA splicing | 17/2100 | 37/18723 | 1.15e-07 | 5.49e-06 | 17 |
GO:007132210 | Endometrium | AEH | cellular response to carbohydrate stimulus | 41/2100 | 163/18723 | 4.55e-07 | 1.87e-05 | 41 |
GO:004254215 | Endometrium | AEH | response to hydrogen peroxide | 38/2100 | 146/18723 | 4.70e-07 | 1.92e-05 | 38 |
GO:00506738 | Endometrium | AEH | epithelial cell proliferation | 84/2100 | 437/18723 | 4.88e-07 | 1.94e-05 | 84 |
GO:00486604 | Endometrium | AEH | regulation of smooth muscle cell proliferation | 43/2100 | 180/18723 | 1.09e-06 | 3.68e-05 | 43 |
GO:00713339 | Endometrium | AEH | cellular response to glucose stimulus | 38/2100 | 151/18723 | 1.17e-06 | 3.82e-05 | 38 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501226 | Endometrium | AEH | Parkinson disease | 115/1197 | 266/8465 | 6.24e-32 | 1.01e-29 | 7.42e-30 | 115 |
hsa0501620 | Endometrium | AEH | Huntington disease | 118/1197 | 306/8465 | 3.00e-27 | 2.44e-25 | 1.78e-25 | 118 |
hsa0501420 | Endometrium | AEH | Amyotrophic lateral sclerosis | 123/1197 | 364/8465 | 2.17e-22 | 7.82e-21 | 5.72e-21 | 123 |
hsa0501020 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa0493220 | Endometrium | AEH | Non-alcoholic fatty liver disease | 67/1197 | 155/8465 | 5.91e-19 | 1.75e-17 | 1.28e-17 | 67 |
hsa0502220 | Endometrium | AEH | Pathways of neurodegeneration - multiple diseases | 137/1197 | 476/8465 | 9.27e-18 | 2.32e-16 | 1.70e-16 | 137 |
hsa0414126 | Endometrium | AEH | Protein processing in endoplasmic reticulum | 62/1197 | 174/8465 | 5.97e-13 | 1.39e-11 | 1.01e-11 | 62 |
hsa0501718 | Endometrium | AEH | Spinocerebellar ataxia | 43/1197 | 143/8465 | 5.92e-07 | 7.69e-06 | 5.63e-06 | 43 |
hsa0541726 | Endometrium | AEH | Lipid and atherosclerosis | 47/1197 | 215/8465 | 1.24e-03 | 7.62e-03 | 5.58e-03 | 47 |
hsa0421010 | Endometrium | AEH | Apoptosis | 30/1197 | 136/8465 | 7.72e-03 | 4.05e-02 | 2.96e-02 | 30 |
hsa05012111 | Endometrium | AEH | Parkinson disease | 115/1197 | 266/8465 | 6.24e-32 | 1.01e-29 | 7.42e-30 | 115 |
hsa05016110 | Endometrium | AEH | Huntington disease | 118/1197 | 306/8465 | 3.00e-27 | 2.44e-25 | 1.78e-25 | 118 |
hsa05014110 | Endometrium | AEH | Amyotrophic lateral sclerosis | 123/1197 | 364/8465 | 2.17e-22 | 7.82e-21 | 5.72e-21 | 123 |
hsa05010110 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa04932110 | Endometrium | AEH | Non-alcoholic fatty liver disease | 67/1197 | 155/8465 | 5.91e-19 | 1.75e-17 | 1.28e-17 | 67 |
hsa05022110 | Endometrium | AEH | Pathways of neurodegeneration - multiple diseases | 137/1197 | 476/8465 | 9.27e-18 | 2.32e-16 | 1.70e-16 | 137 |
hsa04141111 | Endometrium | AEH | Protein processing in endoplasmic reticulum | 62/1197 | 174/8465 | 5.97e-13 | 1.39e-11 | 1.01e-11 | 62 |
hsa0501719 | Endometrium | AEH | Spinocerebellar ataxia | 43/1197 | 143/8465 | 5.92e-07 | 7.69e-06 | 5.63e-06 | 43 |
hsa05417111 | Endometrium | AEH | Lipid and atherosclerosis | 47/1197 | 215/8465 | 1.24e-03 | 7.62e-03 | 5.58e-03 | 47 |
hsa0421015 | Endometrium | AEH | Apoptosis | 30/1197 | 136/8465 | 7.72e-03 | 4.05e-02 | 2.96e-02 | 30 |
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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 |
ERN1 | SNV | Missense_Mutation | novel | c.563N>G | p.Glu188Gly | p.E188G | O75460 | protein_coding | deleterious(0.01) | benign(0.001) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
ERN1 | SNV | Missense_Mutation | novel | c.2447A>T | p.Asp816Val | p.D816V | O75460 | protein_coding | tolerated(0.12) | benign(0.04) | TCGA-AA-3870-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | CR |
ERN1 | SNV | Missense_Mutation | novel | c.268A>G | p.Asn90Asp | p.N90D | O75460 | protein_coding | tolerated(0.2) | benign(0.015) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERN1 | SNV | Missense_Mutation | c.2563N>T | p.Asp855Tyr | p.D855Y | O75460 | protein_coding | deleterious(0.01) | possibly_damaging(0.597) | TCGA-AA-A01D-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | capecitabine | PD | |
ERN1 | SNV | Missense_Mutation | c.1889N>A | p.Cys630Tyr | p.C630Y | O75460 | protein_coding | deleterious(0) | possibly_damaging(0.817) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
ERN1 | SNV | Missense_Mutation | novel | c.2215N>A | p.Ala739Thr | p.A739T | O75460 | protein_coding | deleterious(0) | possibly_damaging(0.849) | TCGA-CM-4743-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | capecitabine | SD |
ERN1 | SNV | Missense_Mutation | c.2458N>T | p.Arg820Cys | p.R820C | O75460 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ERN1 | SNV | Missense_Mutation | rs750705699 | c.2233N>A | p.Glu745Lys | p.E745K | O75460 | protein_coding | tolerated(0.49) | benign(0.127) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ERN1 | SNV | Missense_Mutation | novel | c.2560N>A | p.Leu854Met | p.L854M | O75460 | protein_coding | tolerated(0.27) | possibly_damaging(0.835) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ERN1 | SNV | Missense_Mutation | novel | c.2407N>A | p.Val803Ile | p.V803I | O75460 | protein_coding | tolerated(0.55) | benign(0.005) | TCGA-A5-A0G2-01 | 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 |
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | inhibitor | 249565809 | ||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | BB 0223767 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | 879325-11-8 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | AC1LE05K | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | US8614253, 32-5 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | T8361 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | US9241942, 32-12 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | US9040714, 155 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | US8614253, 29-19 | |||
2081 | ERN1 | DRUGGABLE GENOME, ENZYME, SERINE THREONINE KINASE, TRANSCRIPTION FACTOR, KINASE | US8614253, 29-1 |
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