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Gene: ANKHD1 |
Gene summary for ANKHD1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ANKHD1 | Gene ID | 54882 |
| Gene name | ankyrin repeat and KH domain containing 1 | |
| Gene Alias | MASK | |
| Cytomap | 5q31.3 | |
| Gene Type | protein-coding | GO ID | GO:0002376 | UniProtAcc | Q8IWZ3 |
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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 |
| 54882 | ANKHD1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 7.99e-40 | 6.47e-01 | 0.0155 |
| 54882 | ANKHD1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.97e-41 | 9.33e-01 | -0.1808 |
| 54882 | ANKHD1 | HTA11_2951_2000001011 | Human | Colorectum | AD | 9.20e-14 | 6.52e-01 | 0.0216 |
| 54882 | ANKHD1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 3.65e-52 | 1.20e+00 | -0.0811 |
| 54882 | ANKHD1 | HTA11_78_2000001011 | Human | Colorectum | AD | 2.34e-67 | 1.45e+00 | -0.1088 |
| 54882 | ANKHD1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.29e-110 | 1.75e+00 | -0.1954 |
| 54882 | ANKHD1 | HTA11_411_2000001011 | Human | Colorectum | SER | 9.56e-24 | 1.29e+00 | -0.2602 |
| 54882 | ANKHD1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.45e-19 | 8.18e-01 | -0.2196 |
| 54882 | ANKHD1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.46e-22 | 6.47e-01 | -0.1207 |
| 54882 | ANKHD1 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.94e-40 | 1.04e+00 | -0.1526 |
| 54882 | ANKHD1 | HTA11_696_2000001011 | Human | Colorectum | AD | 9.72e-65 | 1.08e+00 | -0.1464 |
| 54882 | ANKHD1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.19e-76 | 1.14e+00 | -0.1001 |
| 54882 | ANKHD1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 4.62e-41 | 9.64e-01 | -0.059 |
| 54882 | ANKHD1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.27e-18 | 9.86e-01 | -0.1706 |
| 54882 | ANKHD1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.61e-16 | 7.32e-01 | -0.2061 |
| 54882 | ANKHD1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 6.82e-15 | 6.74e-01 | -0.1462 |
| 54882 | ANKHD1 | HTA11_546_2000001011 | Human | Colorectum | AD | 8.94e-38 | 1.14e+00 | -0.0842 |
| 54882 | ANKHD1 | HTA11_9341_2000001011 | Human | Colorectum | SER | 4.42e-10 | 8.53e-01 | -0.00410000000000005 |
| 54882 | ANKHD1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.30e-28 | 9.24e-01 | -0.0179 |
| 54882 | ANKHD1 | HTA11_866_3004761011 | Human | Colorectum | AD | 4.72e-44 | 8.78e-01 | 0.096 |
| Page: 1 2 3 4 5 6 7 8 9 10 |
| 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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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 |
| Page: 1 |
| 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 |
| ANKHD1 | SNV | Missense_Mutation | novel | c.6784N>T | p.His2262Tyr | p.H2262Y | Q8IWZ3 | protein_coding | tolerated_low_confidence(0.13) | possibly_damaging(0.684) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ANKHD1 | SNV | Missense_Mutation | novel | c.7490N>A | p.Gly2497Glu | p.G2497E | Q8IWZ3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.993) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ANKHD1 | SNV | Missense_Mutation | novel | c.556N>T | p.Ala186Ser | p.A186S | Q8IWZ3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| ANKHD1 | SNV | Missense_Mutation | c.1508N>C | p.Glu503Ala | p.E503A | Q8IWZ3 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD | |
| ANKHD1 | SNV | Missense_Mutation | novel | c.5150N>T | p.Asn1717Ile | p.N1717I | Q8IWZ3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ANKHD1 | SNV | Missense_Mutation | novel | c.1976C>G | p.Ala659Gly | p.A659G | Q8IWZ3 | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
| ANKHD1 | SNV | Missense_Mutation | novel | c.2653G>T | p.Asp885Tyr | p.D885Y | Q8IWZ3 | protein_coding | deleterious_low_confidence(0) | benign(0.188) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
| ANKHD1 | SNV | Missense_Mutation | rs776994725 | c.5462C>T | p.Thr1821Met | p.T1821M | Q8IWZ3 | protein_coding | deleterious_low_confidence(0) | benign(0.374) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| ANKHD1 | SNV | Missense_Mutation | c.1504N>A | p.Glu502Lys | p.E502K | Q8IWZ3 | protein_coding | tolerated(0.05) | probably_damaging(0.992) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| ANKHD1 | SNV | Missense_Mutation | rs775180361 | c.4448N>T | p.Ser1483Leu | p.S1483L | Q8IWZ3 | protein_coding | tolerated_low_confidence(0.74) | benign(0) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 |
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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 |
| Page: 1 |
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