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Gene: NGLY1 |
Gene summary for NGLY1 |
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Gene information | Species | Human | Gene symbol | NGLY1 | Gene ID | 55768 |
Gene name | N-glycanase 1 | |
Gene Alias | CDDG | |
Cytomap | 3p24.2 | |
Gene Type | protein-coding | GO ID | GO:0006457 | UniProtAcc | Q96IV0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55768 | NGLY1 | ATC5 | Human | Thyroid | ATC | 5.05e-44 | 7.53e-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:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0006457110 | Esophagus | ESCC | protein folding | 163/8552 | 212/18723 | 1.13e-20 | 1.74e-18 | 163 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:007171211 | Esophagus | ESCC | ER-associated misfolded protein catabolic process | 12/8552 | 12/18723 | 8.21e-05 | 6.01e-04 | 12 |
GO:00517884 | Esophagus | ESCC | response to misfolded protein | 21/8552 | 25/18723 | 9.12e-05 | 6.54e-04 | 21 |
GO:00712184 | Esophagus | ESCC | cellular response to misfolded protein | 19/8552 | 23/18723 | 3.12e-04 | 1.85e-03 | 19 |
GO:19011362 | Esophagus | ESCC | carbohydrate derivative catabolic process | 99/8552 | 172/18723 | 1.11e-03 | 5.54e-03 | 99 |
GO:00065154 | Esophagus | ESCC | protein quality control for misfolded or incompletely synthesized proteins | 21/8552 | 28/18723 | 1.57e-03 | 7.33e-03 | 21 |
GO:00065173 | Esophagus | ESCC | protein deglycosylation | 19/8552 | 26/18723 | 4.31e-03 | 1.71e-02 | 19 |
GO:0006516 | Esophagus | ESCC | glycoprotein catabolic process | 19/8552 | 28/18723 | 1.49e-02 | 4.84e-02 | 19 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:003497612 | Liver | HCC | response to endoplasmic reticulum stress | 189/7958 | 256/18723 | 1.43e-24 | 4.06e-22 | 189 |
GO:000645712 | Liver | HCC | protein folding | 160/7958 | 212/18723 | 1.07e-22 | 1.88e-20 | 160 |
GO:003596612 | Liver | HCC | response to topologically incorrect protein | 123/7958 | 159/18723 | 2.60e-19 | 3.44e-17 | 123 |
GO:003650311 | Liver | HCC | ERAD pathway | 88/7958 | 107/18723 | 2.87e-17 | 2.85e-15 | 88 |
GO:003596712 | Liver | HCC | cellular response to topologically incorrect protein | 89/7958 | 116/18723 | 5.61e-14 | 3.39e-12 | 89 |
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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 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
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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 |
NGLY1 | SNV | Missense_Mutation | c.1654N>C | p.Ser552Pro | p.S552P | Q96IV0 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
NGLY1 | SNV | Missense_Mutation | rs767547861 | c.41N>T | p.Ser14Phe | p.S14F | Q96IV0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NGLY1 | SNV | Missense_Mutation | novel | c.983N>T | p.Arg328Leu | p.R328L | Q96IV0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1RG-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD |
NGLY1 | deletion | Frame_Shift_Del | novel | c.344delN | p.Gly115AlafsTer8 | p.G115Afs*8 | Q96IV0 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
NGLY1 | deletion | Frame_Shift_Del | novel | c.301delN | p.Ile101PhefsTer4 | p.I101Ffs*4 | Q96IV0 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
NGLY1 | SNV | Missense_Mutation | novel | c.1586N>C | p.Arg529Thr | p.R529T | Q96IV0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EA-A3Y4-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NGLY1 | insertion | Nonsense_Mutation | novel | c.1550_1551insAGGCA | p.Trp517Ter | p.W517* | Q96IV0 | protein_coding | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | ||
NGLY1 | SNV | Missense_Mutation | rs142766875 | c.1232N>A | p.Arg411Gln | p.R411Q | Q96IV0 | protein_coding | tolerated(0.14) | benign(0.232) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
NGLY1 | SNV | Missense_Mutation | c.1697N>T | p.Ser566Ile | p.S566I | Q96IV0 | protein_coding | deleterious(0.01) | benign(0.157) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
NGLY1 | SNV | Missense_Mutation | rs375732599 | c.304N>T | p.Arg102Cys | p.R102C | Q96IV0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | 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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