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Gene: HBA2 |
Gene summary for HBA2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | HBA2 | Gene ID | 3040 |
| Gene name | hemoglobin subunit alpha 2 | |
| Gene Alias | ECYT7 | |
| Cytomap | 16p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0000302 | UniProtAcc | D1MGQ2 |
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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 |
| 3040 | HBA2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.37e-03 | 1.80e-01 | -0.1808 |
| 3040 | HBA2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 4.35e-15 | 1.36e+00 | -0.1207 |
| 3040 | HBA2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.00e-12 | 1.10e+00 | -0.059 |
| 3040 | HBA2 | CRC-3-11773 | Human | Colorectum | CRC | 3.61e-02 | 1.57e-01 | 0.2564 |
| 3040 | HBA2 | AEH-subject1 | Human | Endometrium | AEH | 1.10e-08 | -7.24e-01 | -0.3059 |
| 3040 | HBA2 | AEH-subject2 | Human | Endometrium | AEH | 2.55e-07 | -7.16e-01 | -0.2525 |
| 3040 | HBA2 | AEH-subject3 | Human | Endometrium | AEH | 7.69e-12 | -7.30e-01 | -0.2576 |
| 3040 | HBA2 | AEH-subject4 | Human | Endometrium | AEH | 7.85e-07 | -7.30e-01 | -0.2657 |
| 3040 | HBA2 | AEH-subject5 | Human | Endometrium | AEH | 2.81e-09 | -7.21e-01 | -0.2953 |
| 3040 | HBA2 | EEC-subject1 | Human | Endometrium | EEC | 1.12e-09 | -7.22e-01 | -0.2682 |
| 3040 | HBA2 | EEC-subject2 | Human | Endometrium | EEC | 3.48e-12 | -7.30e-01 | -0.2607 |
| 3040 | HBA2 | EEC-subject3 | Human | Endometrium | EEC | 1.84e-05 | -6.28e-01 | -0.2525 |
| 3040 | HBA2 | EEC-subject4 | Human | Endometrium | EEC | 5.60e-08 | -7.04e-01 | -0.2571 |
| 3040 | HBA2 | EEC-subject5 | Human | Endometrium | EEC | 7.69e-12 | -7.30e-01 | -0.249 |
| 3040 | HBA2 | GSM5276934 | Human | Endometrium | EEC | 1.69e-11 | -7.30e-01 | -0.0913 |
| 3040 | HBA2 | GSM5276935 | Human | Endometrium | EEC | 1.29e-08 | -7.10e-01 | -0.123 |
| 3040 | HBA2 | GSM5276937 | Human | Endometrium | EEC | 8.28e-09 | -7.30e-01 | -0.0897 |
| 3040 | HBA2 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 2.35e-07 | -7.30e-01 | -0.1869 |
| 3040 | HBA2 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 2.71e-06 | -7.30e-01 | -0.1875 |
| 3040 | HBA2 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.07e-07 | -7.30e-01 | -0.1883 |
| Page: 1 2 3 4 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0006979 | Colorectum | AD | response to oxidative stress | 145/3918 | 446/18723 | 5.16e-09 | 3.23e-07 | 145 |
| GO:0000302 | Colorectum | AD | response to reactive oxygen species | 78/3918 | 222/18723 | 6.17e-07 | 2.21e-05 | 78 |
| GO:0009636 | Colorectum | AD | response to toxic substance | 88/3918 | 262/18723 | 1.12e-06 | 3.72e-05 | 88 |
| GO:0042542 | Colorectum | AD | response to hydrogen peroxide | 52/3918 | 146/18723 | 2.83e-05 | 5.30e-04 | 52 |
| GO:0098754 | Colorectum | AD | detoxification | 53/3918 | 152/18723 | 4.63e-05 | 7.98e-04 | 53 |
| GO:0097237 | Colorectum | AD | cellular response to toxic substance | 44/3918 | 124/18723 | 1.24e-04 | 1.80e-03 | 44 |
| GO:1990748 | Colorectum | AD | cellular detoxification | 41/3918 | 116/18723 | 2.29e-04 | 2.97e-03 | 41 |
| GO:0072593 | Colorectum | AD | reactive oxygen species metabolic process | 73/3918 | 239/18723 | 2.79e-04 | 3.42e-03 | 73 |
| GO:0098869 | Colorectum | AD | cellular oxidant detoxification | 33/3918 | 101/18723 | 3.88e-03 | 2.72e-02 | 33 |
| GO:00069791 | Colorectum | SER | response to oxidative stress | 114/2897 | 446/18723 | 1.75e-08 | 1.28e-06 | 114 |
| GO:00003021 | Colorectum | SER | response to reactive oxygen species | 65/2897 | 222/18723 | 1.21e-07 | 7.29e-06 | 65 |
| GO:00096361 | Colorectum | SER | response to toxic substance | 71/2897 | 262/18723 | 8.63e-07 | 4.07e-05 | 71 |
| GO:00972371 | Colorectum | SER | cellular response to toxic substance | 40/2897 | 124/18723 | 2.28e-06 | 9.43e-05 | 40 |
| GO:00987541 | Colorectum | SER | detoxification | 46/2897 | 152/18723 | 3.02e-06 | 1.20e-04 | 46 |
| GO:19907481 | Colorectum | SER | cellular detoxification | 37/2897 | 116/18723 | 7.20e-06 | 2.48e-04 | 37 |
| GO:00425421 | Colorectum | SER | response to hydrogen peroxide | 42/2897 | 146/18723 | 3.10e-05 | 8.27e-04 | 42 |
| GO:00725931 | Colorectum | SER | reactive oxygen species metabolic process | 61/2897 | 239/18723 | 3.63e-05 | 9.39e-04 | 61 |
| GO:00988691 | Colorectum | SER | cellular oxidant detoxification | 31/2897 | 101/18723 | 8.73e-05 | 1.91e-03 | 31 |
| GO:0042743 | Colorectum | SER | hydrogen peroxide metabolic process | 17/2897 | 58/18723 | 5.50e-03 | 4.07e-02 | 17 |
| GO:00069795 | Colorectum | CRC | response to oxidative stress | 73/2078 | 446/18723 | 4.31e-04 | 6.34e-03 | 73 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| Page: 1 |
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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 |
| HBA2 | SNV | Missense_Mutation | rs33933481 | c.379G>T | p.Asp127Tyr | p.D127Y | P69905 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
| HBA2 | SNV | Missense_Mutation | novel | c.325A>G | p.Thr109Ala | p.T109A | P69905 | protein_coding | tolerated(0.05) | benign(0.185) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| HBA2 | SNV | Missense_Mutation | rs281864887 | c.343N>A | p.Pro115Thr | p.P115T | P69905 | protein_coding | deleterious(0.01) | benign(0.132) | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| HBA2 | SNV | Missense_Mutation | rs267607269 | c.344N>G | p.Pro115Arg | p.P115R | P69905 | protein_coding | deleterious(0.02) | benign(0.012) | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| HBA2 | SNV | Missense_Mutation | c.103N>A | p.Leu35Met | p.L35M | P69905 | protein_coding | tolerated(0.09) | benign(0.026) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| HBA2 | SNV | Missense_Mutation | rs3209323 | c.359C>T | p.Pro120Leu | p.P120L | P69905 | protein_coding | deleterious(0) | possibly_damaging(0.779) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| HBA2 | SNV | Missense_Mutation | c.374N>T | p.Ser125Phe | p.S125F | P69905 | protein_coding | deleterious(0) | possibly_damaging(0.773) | TCGA-05-5425-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Targeted Molecular therapy | gefitinib | PD | |
| HBA2 | SNV | Missense_Mutation | c.413N>T | p.Thr138Ile | p.T138I | P69905 | protein_coding | deleterious(0.04) | benign(0.028) | TCGA-78-7148-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| HBA2 | SNV | Missense_Mutation | novel | c.376N>G | p.Leu126Val | p.L126V | P69905 | protein_coding | tolerated(0.3) | benign(0.007) | TCGA-21-1081-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| HBA2 | SNV | Missense_Mutation | rs281864887 | c.343N>A | p.Pro115Thr | p.P115T | P69905 | protein_coding | deleterious(0.01) | benign(0.132) | TCGA-90-7964-01 | Lung | lung squamous cell carcinoma | Male | >=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 |
| 3040 | HBA2 | NA | negative modulator | CHEMBL18901 | EFAPROXIRAL |
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