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Gene: HNF1A |
Gene summary for HNF1A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | HNF1A | Gene ID | 6927 |
| Gene name | HNF1 homeobox A | |
| Gene Alias | HNF-1A | |
| Cytomap | 12q24.31 | |
| Gene Type | protein-coding | GO ID | GO:0001889 | UniProtAcc | E0YMI7 |
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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 |
| 6927 | HNF1A | HCC1_Meng | Human | Liver | HCC | 4.18e-29 | 3.11e-02 | 0.0246 |
| 6927 | HNF1A | HCC2_Meng | Human | Liver | HCC | 4.17e-02 | -5.34e-03 | 0.0107 |
| 6927 | HNF1A | HCC1 | Human | Liver | HCC | 1.90e-03 | 4.37e+00 | 0.5336 |
| 6927 | HNF1A | HCC2 | Human | Liver | HCC | 1.91e-02 | 3.24e+00 | 0.5341 |
| 6927 | HNF1A | S014 | Human | Liver | HCC | 2.74e-08 | 4.45e-01 | 0.2254 |
| 6927 | HNF1A | S015 | Human | Liver | HCC | 5.75e-09 | 4.82e-01 | 0.2375 |
| 6927 | HNF1A | S016 | Human | Liver | HCC | 1.45e-05 | 3.85e-01 | 0.2243 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease |
| ∗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:000188922 | Liver | HCC | liver development | 108/7958 | 147/18723 | 2.16e-14 | 1.41e-12 | 108 |
| GO:006100822 | Liver | HCC | hepaticobiliary system development | 109/7958 | 150/18723 | 5.72e-14 | 3.42e-12 | 109 |
| GO:004873222 | Liver | HCC | gland development | 242/7958 | 436/18723 | 2.26e-08 | 5.28e-07 | 242 |
| GO:00063671 | Liver | HCC | transcription initiation from RNA polymerase II promoter | 52/7958 | 77/18723 | 7.87e-06 | 9.27e-05 | 52 |
| GO:0006352 | Liver | HCC | DNA-templated transcription, initiation | 78/7958 | 130/18723 | 4.19e-05 | 4.11e-04 | 78 |
| GO:004259322 | Liver | HCC | glucose homeostasis | 137/7958 | 258/18723 | 3.59e-04 | 2.49e-03 | 137 |
| GO:20001421 | Liver | HCC | regulation of DNA-templated transcription, initiation | 28/7958 | 40/18723 | 4.01e-04 | 2.71e-03 | 28 |
| GO:00602601 | Liver | HCC | regulation of transcription initiation from RNA polymerase II promoter | 24/7958 | 33/18723 | 4.24e-04 | 2.85e-03 | 24 |
| GO:003350022 | Liver | HCC | carbohydrate homeostasis | 137/7958 | 259/18723 | 4.45e-04 | 2.98e-03 | 137 |
| GO:2000144 | Liver | HCC | positive regulation of DNA-templated transcription, initiation | 21/7958 | 31/18723 | 4.01e-03 | 1.76e-02 | 21 |
| GO:0008643 | Liver | HCC | carbohydrate transport | 80/7958 | 152/18723 | 7.34e-03 | 2.92e-02 | 80 |
| GO:003559212 | Liver | HCC | establishment of protein localization to extracellular region | 176/7958 | 360/18723 | 7.96e-03 | 3.15e-02 | 176 |
| GO:0060261 | Liver | HCC | positive regulation of transcription initiation from RNA polymerase II promoter | 17/7958 | 25/18723 | 8.94e-03 | 3.45e-02 | 17 |
| GO:000930612 | Liver | HCC | protein secretion | 175/7958 | 359/18723 | 9.32e-03 | 3.57e-02 | 175 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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. |
| Page: 1 |
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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 |
| HNF1A | SNV | Missense_Mutation | c.378C>A | p.His126Gln | p.H126Q | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD | ||
| HNF1A | SNV | Missense_Mutation | c.653A>G | p.Tyr218Cys | p.Y218C | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| HNF1A | SNV | Missense_Mutation | c.686N>A | p.Arg229Gln | p.R229Q | protein_coding | deleterious(0) | possibly_damaging(0.787) | TCGA-BH-A0W5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | CR | ||
| HNF1A | SNV | Missense_Mutation | c.360N>T | p.Lys120Asn | p.K120N | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | ||
| HNF1A | SNV | Missense_Mutation | rs371717826 | c.1136N>A | p.Pro379His | p.P379H | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-LL-A9Q3-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Immunotherapy | herceptin | CR | |
| HNF1A | SNV | Missense_Mutation | rs886039544 | c.779N>T | p.Thr260Met | p.T260M | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| HNF1A | SNV | Missense_Mutation | rs137853240 | c.955N>A | p.Gly319Ser | p.G319S | protein_coding | deleterious(0.04) | possibly_damaging(0.637) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| HNF1A | SNV | Missense_Mutation | rs760640415 | c.833N>A | p.Arg278Gln | p.R278Q | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| HNF1A | SNV | Missense_Mutation | novel | c.1013N>A | p.Gly338Asp | p.G338D | protein_coding | tolerated(0.05) | benign(0.373) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| HNF1A | SNV | Missense_Mutation | rs373857078 | c.1777G>A | p.Ala593Thr | p.A593T | protein_coding | tolerated_low_confidence(0.36) | benign(0) | TCGA-AA-A01P-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
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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 |
| 6927 | HNF1A | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR | N/A | 26961851,25434466,25076298 | ||
| 6927 | HNF1A | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR | Norleucine | NORLEUCINE | ||
| 6927 | HNF1A | CLINICALLY ACTIONABLE, TRANSCRIPTION FACTOR | opioids | 26233334 |
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