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Gene: HLA-DQB1 |
Gene summary for HLA-DQB1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | HLA-DQB1 | Gene ID | 3119 |
Gene name | major histocompatibility complex, class II, DQ beta 1 | |
Gene Alias | CELIAC1 | |
Cytomap | 6p21.32 | |
Gene Type | protein-coding | GO ID | GO:0001775 | UniProtAcc | Q5SU54 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
3119 | HLA-DQB1 | GSM4909282 | Human | Breast | IDC | 2.95e-03 | 2.35e-01 | -0.0288 |
3119 | HLA-DQB1 | GSM4909287 | Human | Breast | IDC | 1.97e-03 | 3.24e-01 | 0.2057 |
3119 | HLA-DQB1 | GSM4909290 | Human | Breast | IDC | 9.08e-05 | 3.15e-01 | 0.2096 |
3119 | HLA-DQB1 | GSM4909319 | Human | Breast | IDC | 1.17e-02 | 5.10e-03 | 0.1563 |
3119 | HLA-DQB1 | M1 | Human | Breast | IDC | 1.86e-03 | 2.93e-01 | 0.1577 |
3119 | HLA-DQB1 | NCCBC11 | Human | Breast | DCIS | 6.24e-06 | 7.22e-01 | 0.1232 |
3119 | HLA-DQB1 | NCCBC3 | Human | Breast | DCIS | 2.83e-33 | 8.48e-01 | 0.1198 |
3119 | HLA-DQB1 | NCCBC5 | Human | Breast | DCIS | 4.50e-07 | 4.94e-01 | 0.2046 |
3119 | HLA-DQB1 | CA_HPV_1 | Human | Cervix | CC | 1.59e-18 | 7.53e-01 | 0.0264 |
3119 | HLA-DQB1 | CA_HPV_2 | Human | Cervix | CC | 4.58e-02 | -1.77e-01 | 0.0391 |
3119 | HLA-DQB1 | HSIL_HPV_1 | Human | Cervix | HSIL_HPV | 1.90e-03 | 3.51e-01 | 0.0116 |
3119 | HLA-DQB1 | CCI_1 | Human | Cervix | CC | 1.34e-02 | -7.14e-01 | 0.528 |
3119 | HLA-DQB1 | CCII_1 | Human | Cervix | CC | 1.43e-08 | -7.57e-01 | 0.3249 |
3119 | HLA-DQB1 | Tumor | Human | Cervix | CC | 6.29e-12 | -5.76e-01 | 0.1241 |
3119 | HLA-DQB1 | sample1 | Human | Cervix | CC | 2.07e-07 | 4.52e-01 | 0.0959 |
3119 | HLA-DQB1 | sample3 | Human | Cervix | CC | 5.89e-13 | -6.45e-01 | 0.1387 |
3119 | HLA-DQB1 | H2 | Human | Cervix | HSIL_HPV | 4.14e-09 | -1.88e-01 | 0.0632 |
3119 | HLA-DQB1 | T1 | Human | Cervix | CC | 5.77e-14 | 3.87e-01 | 0.0918 |
3119 | HLA-DQB1 | T3 | Human | Cervix | CC | 1.65e-13 | -5.95e-01 | 0.1389 |
3119 | HLA-DQB1 | AEH-subject2 | Human | Endometrium | AEH | 2.60e-02 | 2.43e-01 | -0.2525 |
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Transcriptomic changes along malignancy continuum. |
∗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 |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0019882110 | Oral cavity | LP | antigen processing and presentation | 48/4623 | 106/18723 | 2.96e-06 | 6.44e-05 | 48 |
GO:0048002110 | Oral cavity | LP | antigen processing and presentation of peptide antigen | 30/4623 | 62/18723 | 4.46e-05 | 6.35e-04 | 30 |
GO:0002478110 | Oral cavity | LP | antigen processing and presentation of exogenous peptide antigen | 20/4623 | 38/18723 | 1.95e-04 | 2.15e-03 | 20 |
GO:0019884110 | Oral cavity | LP | antigen processing and presentation of exogenous antigen | 22/4623 | 47/18723 | 8.02e-04 | 7.05e-03 | 22 |
GO:000239617 | Oral cavity | LP | MHC protein complex assembly | 11/4623 | 19/18723 | 2.04e-03 | 1.50e-02 | 11 |
GO:0045785110 | Oral cavity | LP | positive regulation of cell adhesion | 134/4623 | 437/18723 | 2.44e-03 | 1.74e-02 | 134 |
GO:004211017 | Oral cavity | LP | T cell activation | 146/4623 | 487/18723 | 4.13e-03 | 2.66e-02 | 146 |
GO:000250110 | Oral cavity | LP | peptide antigen assembly with MHC protein complex | 10/4623 | 18/18723 | 4.91e-03 | 3.06e-02 | 10 |
GO:001988617 | Oral cavity | LP | antigen processing and presentation of exogenous peptide antigen via MHC class II | 14/4623 | 30/18723 | 7.24e-03 | 4.05e-02 | 14 |
GO:000250416 | Oral cavity | LP | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 16/4623 | 36/18723 | 7.52e-03 | 4.15e-02 | 16 |
GO:000276413 | Oral cavity | EOLP | immune response-regulating signaling pathway | 108/2218 | 468/18723 | 4.04e-12 | 7.34e-10 | 108 |
GO:004211023 | Oral cavity | EOLP | T cell activation | 111/2218 | 487/18723 | 4.67e-12 | 8.17e-10 | 111 |
GO:000715917 | Oral cavity | EOLP | leukocyte cell-cell adhesion | 86/2218 | 371/18723 | 5.01e-10 | 4.11e-08 | 86 |
GO:001988224 | Oral cavity | EOLP | antigen processing and presentation | 36/2218 | 106/18723 | 1.96e-09 | 1.26e-07 | 36 |
GO:004578526 | Oral cavity | EOLP | positive regulation of cell adhesion | 95/2218 | 437/18723 | 2.30e-09 | 1.47e-07 | 95 |
GO:005086316 | Oral cavity | EOLP | regulation of T cell activation | 76/2218 | 329/18723 | 5.96e-09 | 3.11e-07 | 76 |
GO:190303716 | Oral cavity | EOLP | regulation of leukocyte cell-cell adhesion | 77/2218 | 336/18723 | 6.89e-09 | 3.53e-07 | 77 |
GO:002240719 | Oral cavity | EOLP | regulation of cell-cell adhesion | 93/2218 | 448/18723 | 3.65e-08 | 1.41e-06 | 93 |
GO:004800224 | Oral cavity | EOLP | antigen processing and presentation of peptide antigen | 24/2218 | 62/18723 | 5.49e-08 | 2.02e-06 | 24 |
GO:000247824 | Oral cavity | EOLP | antigen processing and presentation of exogenous peptide antigen | 18/2218 | 38/18723 | 6.33e-08 | 2.30e-06 | 18 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516922 | Breast | IDC | Epstein-Barr virus infection | 45/867 | 202/8465 | 3.16e-07 | 6.05e-06 | 4.52e-06 | 45 |
hsa0461223 | Breast | IDC | Antigen processing and presentation | 24/867 | 78/8465 | 4.61e-07 | 8.33e-06 | 6.23e-06 | 24 |
hsa0414522 | Breast | IDC | Phagosome | 34/867 | 152/8465 | 8.00e-06 | 9.99e-05 | 7.48e-05 | 34 |
hsa0541623 | Breast | IDC | Viral myocarditis | 18/867 | 60/8465 | 1.85e-05 | 2.01e-04 | 1.50e-04 | 18 |
hsa0516624 | Breast | IDC | Human T-cell leukemia virus 1 infection | 40/867 | 222/8465 | 2.52e-04 | 2.21e-03 | 1.66e-03 | 40 |
hsa0532321 | Breast | IDC | Rheumatoid arthritis | 21/867 | 93/8465 | 3.69e-04 | 3.15e-03 | 2.36e-03 | 21 |
hsa0494014 | Breast | IDC | Type I diabetes mellitus | 12/867 | 43/8465 | 9.40e-04 | 7.28e-03 | 5.44e-03 | 12 |
hsa0533012 | Breast | IDC | Allograft rejection | 11/867 | 38/8465 | 1.09e-03 | 8.26e-03 | 6.18e-03 | 11 |
hsa0533210 | Breast | IDC | Graft-versus-host disease | 11/867 | 42/8465 | 2.66e-03 | 1.80e-02 | 1.35e-02 | 11 |
hsa0514012 | Breast | IDC | Leishmaniasis | 16/867 | 77/8465 | 4.35e-03 | 2.57e-02 | 1.92e-02 | 16 |
hsa0532010 | Breast | IDC | Autoimmune thyroid disease | 12/867 | 53/8465 | 6.29e-03 | 3.30e-02 | 2.47e-02 | 12 |
hsa0516932 | Breast | IDC | Epstein-Barr virus infection | 45/867 | 202/8465 | 3.16e-07 | 6.05e-06 | 4.52e-06 | 45 |
hsa0461233 | Breast | IDC | Antigen processing and presentation | 24/867 | 78/8465 | 4.61e-07 | 8.33e-06 | 6.23e-06 | 24 |
hsa0414532 | Breast | IDC | Phagosome | 34/867 | 152/8465 | 8.00e-06 | 9.99e-05 | 7.48e-05 | 34 |
hsa0541633 | Breast | IDC | Viral myocarditis | 18/867 | 60/8465 | 1.85e-05 | 2.01e-04 | 1.50e-04 | 18 |
hsa0516634 | Breast | IDC | Human T-cell leukemia virus 1 infection | 40/867 | 222/8465 | 2.52e-04 | 2.21e-03 | 1.66e-03 | 40 |
hsa0532331 | Breast | IDC | Rheumatoid arthritis | 21/867 | 93/8465 | 3.69e-04 | 3.15e-03 | 2.36e-03 | 21 |
hsa0494015 | Breast | IDC | Type I diabetes mellitus | 12/867 | 43/8465 | 9.40e-04 | 7.28e-03 | 5.44e-03 | 12 |
hsa0533013 | Breast | IDC | Allograft rejection | 11/867 | 38/8465 | 1.09e-03 | 8.26e-03 | 6.18e-03 | 11 |
hsa0533211 | Breast | IDC | Graft-versus-host disease | 11/867 | 42/8465 | 2.66e-03 | 1.80e-02 | 1.35e-02 | 11 |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Breast | DCIS |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Breast | Healthy |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Breast | IDC |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | ADJ |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | CC |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | Healthy |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Cervix | Precancer |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | AD |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | ADJ |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | FAP |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | MSI-H |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | MSS |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | CRC | SER |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | ADJ |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | AEH |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | EEC |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | Endometrium | Healthy |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | HNSCC | ADJ |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | HNSCC | Healthy |
HLA-DQB1 | CD4 | HLA-DQB1_CD4 | MHC-II | HNSCC | OSCC |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
HLA-DQB1 | SNV | Missense_Mutation | rs546609663 | c.169N>T | p.Arg57Cys | p.R57C | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HLA-DQB1 | SNV | Missense_Mutation | c.743N>A | p.Gly248Asp | p.G248D | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
HLA-DQB1 | SNV | Missense_Mutation | c.515N>T | p.Ala172Val | p.A172V | protein_coding | deleterious(0.05) | benign(0.018) | TCGA-CM-6162-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | SD | ||
HLA-DQB1 | SNV | Missense_Mutation | novel | c.109N>A | p.Glu37Lys | p.E37K | protein_coding | tolerated(0.35) | benign(0.005) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
HLA-DQB1 | SNV | Missense_Mutation | novel | c.655G>A | p.Glu219Lys | p.E219K | protein_coding | deleterious(0) | possibly_damaging(0.511) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HLA-DQB1 | SNV | Missense_Mutation | rs749609676 | c.71N>C | p.Met24Thr | p.M24T | protein_coding | deleterious(0.02) | benign(0.028) | TCGA-AG-A023-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
HLA-DQB1 | SNV | Missense_Mutation | rs9273989 | c.494N>A | p.Arg165Gln | p.R165Q | protein_coding | deleterious(0.04) | benign(0.263) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
HLA-DQB1 | SNV | Missense_Mutation | c.100N>A | p.Asp34Asn | p.D34N | protein_coding | deleterious(0.03) | possibly_damaging(0.597) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | ||
HLA-DQB1 | SNV | Missense_Mutation | rs9273989 | c.494G>A | p.Arg165Gln | p.R165Q | protein_coding | deleterious(0.04) | benign(0.263) | TCGA-AX-A05Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
HLA-DQB1 | SNV | Missense_Mutation | novel | c.718N>A | p.Leu240Met | p.L240M | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | ticlopidine | TICLOPIDINE | 17339877 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | carbamazepine | CARBAMAZEPINE | 24399721 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | amoxicillin | AMOXICILLIN | 10535882,30664875 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | flucloxacillin | FLOXACILLIN | 30664875 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | Drugs For Treatment Of Tuberculosis | 25250564,12359646 | ||
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | acetaminophen | ACETAMINOPHEN | 21545408 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | clavulanate | CLAVULANIC ACID | 10535882,30664875 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | bucillamine | BUCILLAMINE | ||
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | flupirtine | FLUPIRTINE | 26959717 | |
3119 | HLA-DQB1 | CLINICALLY ACTIONABLE | nevirapine | NEVIRAPINE |
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