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Gene: ANKS1B |
Gene summary for ANKS1B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ANKS1B | Gene ID | 56899 |
| Gene name | ankyrin repeat and sterile alpha motif domain containing 1B | |
| Gene Alias | AIDA | |
| Cytomap | 12q23.1 | |
| Gene Type | protein-coding | GO ID | GO:0007154 | UniProtAcc | B7Z9I9 |
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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 |
| 56899 | ANKS1B | AEH-subject1 | Human | Endometrium | AEH | 1.27e-13 | 3.50e-01 | -0.3059 |
| 56899 | ANKS1B | AEH-subject3 | Human | Endometrium | AEH | 2.38e-09 | 3.03e-01 | -0.2576 |
| 56899 | ANKS1B | AEH-subject4 | Human | Endometrium | AEH | 7.80e-05 | 2.67e-01 | -0.2657 |
| 56899 | ANKS1B | AEH-subject5 | Human | Endometrium | AEH | 9.88e-30 | 6.80e-01 | -0.2953 |
| 56899 | ANKS1B | EEC-subject1 | Human | Endometrium | EEC | 1.33e-27 | 6.25e-01 | -0.2682 |
| 56899 | ANKS1B | EEC-subject2 | Human | Endometrium | EEC | 3.95e-02 | 1.55e-01 | -0.2607 |
| 56899 | ANKS1B | EEC-subject4 | Human | Endometrium | EEC | 4.34e-04 | 2.18e-01 | -0.2571 |
| 56899 | ANKS1B | EEC-subject5 | Human | Endometrium | EEC | 2.69e-07 | 2.83e-01 | -0.249 |
| 56899 | ANKS1B | RNA-P17T-P17T-2 | Human | Lung | IAC | 1.63e-03 | 5.55e-01 | 0.3371 |
| 56899 | ANKS1B | RNA-P17T-P17T-4 | Human | Lung | IAC | 4.50e-10 | 9.22e-01 | 0.343 |
| 56899 | ANKS1B | RNA-P17T-P17T-6 | Human | Lung | IAC | 1.07e-03 | 6.18e-01 | 0.3385 |
| 56899 | ANKS1B | RNA-P17T-P17T-8 | Human | Lung | IAC | 7.12e-06 | 6.74e-01 | 0.3329 |
| 56899 | ANKS1B | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 1.00e-18 | 8.04e-01 | -0.2116 |
| 56899 | ANKS1B | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 4.54e-03 | 5.58e-01 | -0.1941 |
| 56899 | ANKS1B | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 2.57e-06 | 7.09e-01 | -0.2107 |
| 56899 | ANKS1B | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 3.81e-22 | 9.42e-01 | -0.2119 |
| 56899 | ANKS1B | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 2.33e-25 | 7.61e-01 | -0.0166 |
| 56899 | ANKS1B | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 2.70e-26 | 7.85e-01 | -0.0132 |
| 56899 | ANKS1B | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 2.37e-24 | 7.26e-01 | -0.013 |
| 56899 | ANKS1B | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 1.48e-21 | 7.40e-01 | -0.0121 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:00315032 | Lung | IAC | protein-containing complex localization | 42/2061 | 220/18723 | 2.60e-04 | 4.32e-03 | 42 |
| GO:003150311 | Lung | AIS | protein-containing complex localization | 39/1849 | 220/18723 | 2.24e-04 | 4.51e-03 | 39 |
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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 |
| ANKS1B | SNV | Missense_Mutation | c.814C>G | p.Gln272Glu | p.Q272E | Q7Z6G8 | protein_coding | deleterious(0) | possibly_damaging(0.874) | TCGA-A2-A0YL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD | |
| ANKS1B | SNV | Missense_Mutation | c.250N>G | p.Ser84Ala | p.S84A | Q7Z6G8 | protein_coding | tolerated(0.17) | benign(0.137) | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD | |
| ANKS1B | SNV | Missense_Mutation | c.814C>G | p.Gln272Glu | p.Q272E | Q7Z6G8 | protein_coding | deleterious(0) | possibly_damaging(0.874) | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD | |
| ANKS1B | SNV | Missense_Mutation | c.2671N>A | p.Glu891Lys | p.E891K | Q7Z6G8 | protein_coding | tolerated(0.15) | possibly_damaging(0.732) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD | |
| ANKS1B | SNV | Missense_Mutation | c.3624N>C | p.Lys1208Asn | p.K1208N | Q7Z6G8 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-D8-A1Y1-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | PD | |
| ANKS1B | SNV | Missense_Mutation | c.1771C>A | p.Gln591Lys | p.Q591K | Q7Z6G8 | protein_coding | tolerated(0.06) | benign(0) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| ANKS1B | SNV | Missense_Mutation | c.3587G>A | p.Gly1196Glu | p.G1196E | Q7Z6G8 | protein_coding | tolerated(0.11) | possibly_damaging(0.837) | TCGA-XX-A89A-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| ANKS1B | insertion | Frame_Shift_Ins | novel | c.2032dupA | p.Ser678LysfsTer47 | p.S678Kfs*47 | Q7Z6G8 | protein_coding | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| ANKS1B | deletion | Frame_Shift_Del | c.801delN | p.Glu268AsnfsTer18 | p.E268Nfs*18 | Q7Z6G8 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | |||
| ANKS1B | SNV | Missense_Mutation | c.3454G>C | p.Asp1152His | p.D1152H | Q7Z6G8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A2PL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | 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 |
| 56899 | ANKS1B | NA | ethanol | ALCOHOL | 31462767 | |
| 56899 | ANKS1B | NA | methamphetamine | METHAMPHETAMINE | 31462767 | |
| 56899 | ANKS1B | NA | heroin | DIACETYLMORPHINE | 31462767 | |
| 56899 | ANKS1B | NA | amisulpride | AMISULPRIDE | 28332719 |
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