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Gene: ANKRD13B |
Gene summary for ANKRD13B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ANKRD13B | Gene ID | 124930 |
| Gene name | ankyrin repeat domain 13B | |
| Gene Alias | ANKRD13B | |
| Cytomap | 17q11.2 | |
| Gene Type | protein-coding | GO ID | GO:0002090 | UniProtAcc | A0A024QZ29 |
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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 |
| 124930 | ANKRD13B | C30 | Human | Oral cavity | OSCC | 4.66e-17 | 6.38e-01 | 0.3055 |
| 124930 | ANKRD13B | C38 | Human | Oral cavity | OSCC | 3.51e-15 | 1.01e+00 | 0.172 |
| 124930 | ANKRD13B | SYSMH3 | Human | Oral cavity | OSCC | 6.46e-04 | 1.74e-01 | 0.2442 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:003010016 | Oral cavity | OSCC | regulation of endocytosis | 121/7305 | 211/18723 | 4.74e-08 | 8.80e-07 | 121 |
| GO:000689810 | Oral cavity | OSCC | receptor-mediated endocytosis | 125/7305 | 244/18723 | 6.56e-05 | 5.32e-04 | 125 |
| GO:004311210 | Oral cavity | OSCC | receptor metabolic process | 88/7305 | 166/18723 | 1.68e-04 | 1.15e-03 | 88 |
| GO:004825910 | Oral cavity | OSCC | regulation of receptor-mediated endocytosis | 58/7305 | 110/18723 | 2.37e-03 | 1.05e-02 | 58 |
| GO:00316239 | Oral cavity | OSCC | receptor internalization | 56/7305 | 113/18723 | 1.44e-02 | 4.69e-02 | 56 |
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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 |
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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 |
| ANKRD13B | SNV | Missense_Mutation | c.206N>T | p.Ala69Val | p.A69V | Q86YJ7 | protein_coding | deleterious(0.03) | benign(0.363) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR | |
| ANKRD13B | insertion | Nonsense_Mutation | novel | c.488_489insCACTCAGTAGGTGTTTCATAAATATTTGTTGAAAGAAT | p.Arg163SerfsTer4 | p.R163Sfs*4 | Q86YJ7 | protein_coding | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| ANKRD13B | SNV | Missense_Mutation | novel | c.1180N>A | p.Ala394Thr | p.A394T | Q86YJ7 | protein_coding | deleterious(0) | probably_damaging(0.951) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ANKRD13B | SNV | Missense_Mutation | novel | c.1265N>T | p.Pro422Leu | p.P422L | Q86YJ7 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| ANKRD13B | SNV | Missense_Mutation | c.1045G>C | p.Glu349Gln | p.E349Q | Q86YJ7 | protein_coding | tolerated(0.09) | benign(0.043) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD | |
| ANKRD13B | SNV | Missense_Mutation | c.753N>C | p.Glu251Asp | p.E251D | Q86YJ7 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-FU-A3YQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| ANKRD13B | SNV | Missense_Mutation | novel | c.1513N>A | p.Asp505Asn | p.D505N | Q86YJ7 | protein_coding | tolerated(0.09) | benign(0.406) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| ANKRD13B | SNV | Missense_Mutation | c.1750N>T | p.Arg584Trp | p.R584W | Q86YJ7 | protein_coding | deleterious(0.01) | benign(0.12) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ANKRD13B | SNV | Missense_Mutation | c.323G>A | p.Arg108Gln | p.R108Q | Q86YJ7 | protein_coding | tolerated(0.09) | possibly_damaging(0.506) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD | |
| ANKRD13B | SNV | Missense_Mutation | c.1054A>G | p.Asn352Asp | p.N352D | Q86YJ7 | protein_coding | tolerated(0.52) | benign(0.021) | TCGA-AU-6004-01 | Colorectum | colon adenocarcinoma | 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 |
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