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Gene: DERL1 |
Gene summary for DERL1 |
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Gene information | Species | Human | Gene symbol | DERL1 | Gene ID | 79139 |
Gene name | derlin 1 | |
Gene Alias | DER-1 | |
Cytomap | 8q24.13 | |
Gene Type | protein-coding | GO ID | GO:0006464 | UniProtAcc | Q9BUN8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79139 | DERL1 | P1_cSCC | Human | Skin | cSCC | 3.26e-18 | 6.74e-01 | 0.0292 |
79139 | DERL1 | P2_cSCC | Human | Skin | cSCC | 1.06e-04 | 3.61e-01 | -0.024 |
79139 | DERL1 | P4_cSCC | Human | Skin | cSCC | 1.30e-09 | 5.45e-01 | -0.00290000000000005 |
79139 | DERL1 | P10_cSCC | Human | Skin | cSCC | 1.40e-22 | 7.94e-01 | 0.1017 |
79139 | DERL1 | male-WTA | Human | Thyroid | PTC | 1.22e-38 | 2.26e-01 | 0.1037 |
79139 | DERL1 | PTC01 | Human | Thyroid | PTC | 4.32e-17 | 2.92e-01 | 0.1899 |
79139 | DERL1 | PTC03 | Human | Thyroid | PTC | 4.09e-03 | 1.22e-02 | 0.1784 |
79139 | DERL1 | PTC04 | Human | Thyroid | PTC | 1.92e-15 | 3.27e-01 | 0.1927 |
79139 | DERL1 | PTC05 | Human | Thyroid | PTC | 5.46e-20 | 8.50e-01 | 0.2065 |
79139 | DERL1 | PTC06 | Human | Thyroid | PTC | 1.51e-34 | 9.23e-01 | 0.2057 |
79139 | DERL1 | PTC07 | Human | Thyroid | PTC | 1.43e-37 | 6.01e-01 | 0.2044 |
79139 | DERL1 | ATC09 | Human | Thyroid | ATC | 7.58e-10 | 5.15e-01 | 0.2871 |
79139 | DERL1 | ATC12 | Human | Thyroid | ATC | 2.64e-13 | 2.45e-01 | 0.34 |
79139 | DERL1 | ATC13 | Human | Thyroid | ATC | 1.60e-41 | 7.93e-01 | 0.34 |
79139 | DERL1 | ATC1 | Human | Thyroid | ATC | 2.72e-11 | 6.09e-01 | 0.2878 |
79139 | DERL1 | ATC2 | Human | Thyroid | ATC | 1.42e-07 | 1.06e+00 | 0.34 |
79139 | DERL1 | ATC3 | Human | Thyroid | ATC | 4.65e-03 | 1.21e-01 | 0.338 |
79139 | DERL1 | ATC4 | Human | Thyroid | ATC | 2.92e-11 | 3.98e-01 | 0.34 |
79139 | DERL1 | ATC5 | Human | Thyroid | ATC | 1.62e-46 | 8.77e-01 | 0.34 |
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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:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:1903320111 | Esophagus | ESCC | regulation of protein modification by small protein conjugation or removal | 181/8552 | 242/18723 | 1.80e-20 | 2.60e-18 | 181 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
GO:0006986111 | Esophagus | ESCC | response to unfolded protein | 107/8552 | 137/18723 | 7.01e-15 | 3.87e-13 | 107 |
GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
GO:004339320 | Esophagus | ESCC | regulation of protein binding | 135/8552 | 196/18723 | 3.69e-11 | 1.22e-09 | 135 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:0034620111 | Esophagus | ESCC | cellular response to unfolded protein | 74/8552 | 96/18723 | 3.10e-10 | 8.66e-09 | 74 |
GO:190332216 | Esophagus | ESCC | positive regulation of protein modification by small protein conjugation or removal | 99/8552 | 138/18723 | 4.39e-10 | 1.16e-08 | 99 |
GO:003043314 | Esophagus | ESCC | ubiquitin-dependent ERAD pathway | 66/8552 | 85/18723 | 1.64e-09 | 3.78e-08 | 66 |
GO:003096818 | Esophagus | ESCC | endoplasmic reticulum unfolded protein response | 59/8552 | 74/18723 | 1.90e-09 | 4.36e-08 | 59 |
GO:003139816 | Esophagus | ESCC | positive regulation of protein ubiquitination | 82/8552 | 119/18723 | 2.41e-07 | 3.64e-06 | 82 |
GO:003209216 | Esophagus | ESCC | positive regulation of protein binding | 60/8552 | 85/18723 | 2.83e-06 | 3.22e-05 | 60 |
GO:003252714 | Esophagus | ESCC | protein exit from endoplasmic reticulum | 37/8552 | 48/18723 | 8.99e-06 | 8.65e-05 | 37 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0501432 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0414130 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa0501428 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa0502228 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa04141113 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa05014112 | Oral cavity | OSCC | Amyotrophic lateral sclerosis | 246/3704 | 364/8465 | 6.65e-21 | 1.11e-18 | 5.67e-19 | 246 |
hsa05022112 | Oral cavity | OSCC | Pathways of neurodegeneration - multiple diseases | 292/3704 | 476/8465 | 1.60e-15 | 4.47e-14 | 2.28e-14 | 292 |
hsa0501429 | Oral cavity | LP | Amyotrophic lateral sclerosis | 197/2418 | 364/8465 | 1.25e-25 | 1.39e-23 | 8.93e-24 | 197 |
hsa04141210 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
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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 |
DERL1 | SNV | Missense_Mutation | novel | c.532N>G | p.Leu178Val | p.L178V | Q9BUN8 | protein_coding | tolerated(0.14) | benign(0.163) | TCGA-AR-A1AQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
DERL1 | insertion | Nonsense_Mutation | novel | c.640_641insTTCTCTTTACAAATTGAAAAAAAAAATCCTTATTTTGTATAAAG | p.Arg214IlefsTer6 | p.R214Ifs*6 | Q9BUN8 | protein_coding | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
DERL1 | SNV | Missense_Mutation | c.454N>A | p.Ala152Thr | p.A152T | Q9BUN8 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-DG-A2KH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
DERL1 | SNV | Missense_Mutation | c.502N>T | p.Gly168Cys | p.G168C | Q9BUN8 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
DERL1 | SNV | Missense_Mutation | c.188N>A | p.Pro63His | p.P63H | Q9BUN8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
DERL1 | SNV | Missense_Mutation | c.211N>A | p.Leu71Ile | p.L71I | Q9BUN8 | protein_coding | tolerated(0.2) | possibly_damaging(0.664) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
DERL1 | SNV | Missense_Mutation | novel | c.415N>T | p.Asp139Tyr | p.D139Y | Q9BUN8 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DERL1 | SNV | Missense_Mutation | rs751887904 | c.605C>T | p.Thr202Ile | p.T202I | Q9BUN8 | protein_coding | deleterious(0.01) | probably_damaging(0.982) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DERL1 | SNV | Missense_Mutation | novel | c.527G>T | p.Gly176Val | p.G176V | Q9BUN8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DERL1 | SNV | Missense_Mutation | c.405N>T | p.Gln135His | p.Q135H | Q9BUN8 | protein_coding | deleterious(0.02) | possibly_damaging(0.706) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid 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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