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Gene: FANK1 |
Gene summary for FANK1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FANK1 | Gene ID | 92565 |
| Gene name | fibronectin type III and ankyrin repeat domains 1 | |
| Gene Alias | HSD13 | |
| Cytomap | 10q26.2 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q8TC84 |
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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 |
| 92565 | FANK1 | C21 | Human | Oral cavity | OSCC | 4.67e-03 | 1.85e-01 | 0.2678 |
| 92565 | FANK1 | C30 | Human | Oral cavity | OSCC | 6.66e-09 | 4.27e-01 | 0.3055 |
| 92565 | FANK1 | C08 | Human | Oral cavity | OSCC | 4.27e-09 | 1.69e-01 | 0.1919 |
| 92565 | FANK1 | LN38 | Human | Oral cavity | OSCC | 8.51e-03 | 5.99e-01 | 0.168 |
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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:00510907 | Oral cavity | OSCC | regulation of DNA-binding transcription factor activity | 221/7305 | 440/18723 | 9.06e-07 | 1.23e-05 | 221 |
| GO:00510917 | Oral cavity | OSCC | positive regulation of DNA-binding transcription factor activity | 134/7305 | 260/18723 | 2.52e-05 | 2.35e-04 | 134 |
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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 |
| FANK1 | SNV | Missense_Mutation | c.785C>G | p.Ser262Cys | p.S262C | Q8TC84 | protein_coding | deleterious(0.02) | probably_damaging(0.961) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| FANK1 | SNV | Missense_Mutation | c.749N>C | p.Arg250Thr | p.R250T | Q8TC84 | protein_coding | tolerated(0.06) | probably_damaging(0.998) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD | |
| FANK1 | SNV | Missense_Mutation | c.29C>T | p.Ser10Leu | p.S10L | Q8TC84 | protein_coding | deleterious_low_confidence(0.02) | benign(0) | TCGA-E2-A152-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | PD | |
| FANK1 | deletion | Frame_Shift_Del | c.54_108delNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Lys19AlafsTer49 | p.K19Afs*49 | Q8TC84 | protein_coding | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD | |||
| FANK1 | SNV | Missense_Mutation | c.785N>G | p.Ser262Cys | p.S262C | Q8TC84 | protein_coding | deleterious(0.02) | probably_damaging(0.961) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD | |
| FANK1 | SNV | Missense_Mutation | c.659G>A | p.Gly220Glu | p.G220E | Q8TC84 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| FANK1 | SNV | Missense_Mutation | rs373547952 | c.712N>A | p.Val238Ile | p.V238I | Q8TC84 | protein_coding | tolerated(0.22) | benign(0.094) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| FANK1 | SNV | Missense_Mutation | rs139083336 | c.251N>A | p.Arg84His | p.R84H | Q8TC84 | protein_coding | deleterious(0) | benign(0.248) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| FANK1 | SNV | Missense_Mutation | novel | c.439N>A | p.Ala147Thr | p.A147T | Q8TC84 | protein_coding | tolerated(0.08) | probably_damaging(0.909) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| FANK1 | SNV | Missense_Mutation | c.466T>C | p.Tyr156His | p.Y156H | Q8TC84 | protein_coding | tolerated(0.06) | possibly_damaging(0.844) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | 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 |
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