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Gene: AKAP12 |
Gene summary for AKAP12 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | AKAP12 | Gene ID | 9590 |
| Gene name | A-kinase anchoring protein 12 | |
| Gene Alias | AKAP250 | |
| Cytomap | 6q25.1 | |
| Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | Q02952 |
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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 |
| 9590 | AKAP12 | AEH-subject2 | Human | Endometrium | AEH | 1.15e-02 | 2.86e-02 | -0.2525 |
| 9590 | AKAP12 | AEH-subject3 | Human | Endometrium | AEH | 3.27e-05 | -1.46e-01 | -0.2576 |
| 9590 | AKAP12 | AEH-subject4 | Human | Endometrium | AEH | 2.27e-02 | 7.66e-02 | -0.2657 |
| 9590 | AKAP12 | AEH-subject5 | Human | Endometrium | AEH | 1.70e-03 | -1.33e-01 | -0.2953 |
| 9590 | AKAP12 | EEC-subject1 | Human | Endometrium | EEC | 4.33e-04 | -1.40e-01 | -0.2682 |
| 9590 | AKAP12 | EEC-subject2 | Human | Endometrium | EEC | 1.46e-05 | -3.60e-02 | -0.2607 |
| 9590 | AKAP12 | EEC-subject3 | Human | Endometrium | EEC | 1.67e-04 | -1.29e-01 | -0.2525 |
| 9590 | AKAP12 | EEC-subject4 | Human | Endometrium | EEC | 6.35e-05 | -1.50e-01 | -0.2571 |
| 9590 | AKAP12 | EEC-subject5 | Human | Endometrium | EEC | 2.27e-06 | -1.72e-01 | -0.249 |
| 9590 | AKAP12 | GSM5276934 | Human | Endometrium | EEC | 3.90e-37 | 8.73e-01 | -0.0913 |
| 9590 | AKAP12 | GSM5276937 | Human | Endometrium | EEC | 4.24e-57 | 1.31e+00 | -0.0897 |
| 9590 | AKAP12 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 5.49e-06 | -1.48e-01 | -0.1869 |
| 9590 | AKAP12 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 2.13e-05 | -2.03e-01 | -0.1875 |
| 9590 | AKAP12 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 1.12e-06 | -2.03e-01 | -0.1883 |
| 9590 | AKAP12 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 1.85e-09 | -1.96e-01 | -0.1934 |
| 9590 | AKAP12 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 2.65e-11 | -1.60e-01 | -0.1917 |
| 9590 | AKAP12 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 9.79e-09 | -1.65e-01 | -0.1916 |
| 9590 | AKAP12 | P4T-E | Human | Esophagus | ESCC | 8.68e-10 | 3.56e-01 | 0.1323 |
| 9590 | AKAP12 | P8T-E | Human | Esophagus | ESCC | 4.67e-07 | 3.46e-01 | 0.0889 |
| 9590 | AKAP12 | P11T-E | Human | Esophagus | ESCC | 1.86e-10 | 9.50e-01 | 0.1426 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| 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 |
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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:003461220 | Esophagus | ESCC | response to tumor necrosis factor | 149/8552 | 253/18723 | 1.47e-05 | 1.33e-04 | 149 |
| GO:003249619 | Esophagus | ESCC | response to lipopolysaccharide | 191/8552 | 343/18723 | 1.11e-04 | 7.73e-04 | 191 |
| GO:007135620 | Esophagus | ESCC | cellular response to tumor necrosis factor | 132/8552 | 229/18723 | 1.69e-04 | 1.11e-03 | 132 |
| GO:000166720 | Esophagus | ESCC | ameboidal-type cell migration | 250/8552 | 475/18723 | 1.22e-03 | 5.97e-03 | 250 |
| GO:00107619 | Esophagus | ESCC | fibroblast migration | 32/8552 | 47/18723 | 1.59e-03 | 7.43e-03 | 32 |
| GO:000223719 | Esophagus | ESCC | response to molecule of bacterial origin | 194/8552 | 363/18723 | 1.64e-03 | 7.61e-03 | 194 |
| GO:00343493 | Esophagus | ESCC | glial cell apoptotic process | 14/8552 | 17/18723 | 2.22e-03 | 9.78e-03 | 14 |
| GO:000181916 | Esophagus | ESCC | positive regulation of cytokine production | 244/8552 | 467/18723 | 2.29e-03 | 1.01e-02 | 244 |
| GO:003461218 | Oral cavity | OSCC | response to tumor necrosis factor | 143/7305 | 253/18723 | 1.09e-08 | 2.23e-07 | 143 |
| GO:007135618 | Oral cavity | OSCC | cellular response to tumor necrosis factor | 128/7305 | 229/18723 | 1.49e-07 | 2.49e-06 | 128 |
| GO:003249617 | Oral cavity | OSCC | response to lipopolysaccharide | 178/7305 | 343/18723 | 7.27e-07 | 1.03e-05 | 178 |
| GO:0034349 | Oral cavity | OSCC | glial cell apoptotic process | 16/7305 | 17/18723 | 3.07e-06 | 3.72e-05 | 16 |
| GO:00107618 | Oral cavity | OSCC | fibroblast migration | 33/7305 | 47/18723 | 1.43e-05 | 1.44e-04 | 33 |
| GO:000223717 | Oral cavity | OSCC | response to molecule of bacterial origin | 181/7305 | 363/18723 | 1.48e-05 | 1.49e-04 | 181 |
| GO:0034350 | Oral cavity | OSCC | regulation of glial cell apoptotic process | 11/7305 | 11/18723 | 3.17e-05 | 2.87e-04 | 11 |
| GO:000166719 | Oral cavity | OSCC | ameboidal-type cell migration | 228/7305 | 475/18723 | 3.46e-05 | 3.10e-04 | 228 |
| GO:00107623 | Oral cavity | OSCC | regulation of fibroblast migration | 24/7305 | 36/18723 | 7.18e-04 | 3.95e-03 | 24 |
| GO:000181910 | Oral cavity | OSCC | positive regulation of cytokine production | 213/7305 | 467/18723 | 1.93e-03 | 8.96e-03 | 213 |
| GO:00705556 | Oral cavity | OSCC | response to interleukin-1 | 73/7305 | 143/18723 | 2.23e-03 | 1.00e-02 | 73 |
| GO:00713473 | Oral cavity | OSCC | cellular response to interleukin-1 | 58/7305 | 113/18723 | 5.14e-03 | 2.01e-02 | 58 |
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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 |
| AKAP12 | SNV | Missense_Mutation | novel | c.1813G>A | p.Glu605Lys | p.E605K | Q02952 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| AKAP12 | SNV | Missense_Mutation | c.2143G>A | p.Asp715Asn | p.D715N | Q02952 | protein_coding | deleterious(0) | benign(0.397) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD | |
| AKAP12 | SNV | Missense_Mutation | c.799N>C | p.Glu267Gln | p.E267Q | Q02952 | protein_coding | tolerated(0.26) | possibly_damaging(0.543) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| AKAP12 | SNV | Missense_Mutation | novel | c.3718G>A | p.Glu1240Lys | p.E1240K | Q02952 | protein_coding | tolerated(0.16) | benign(0.007) | TCGA-A2-A0YD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
| AKAP12 | SNV | Missense_Mutation | novel | c.830N>A | p.Pro277His | p.P277H | Q02952 | protein_coding | deleterious(0) | possibly_damaging(0.662) | TCGA-A7-A6VW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
| AKAP12 | SNV | Missense_Mutation | c.1913N>A | p.Val638Asp | p.V638D | Q02952 | protein_coding | deleterious(0) | possibly_damaging(0.641) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR | |
| AKAP12 | SNV | Missense_Mutation | c.2130N>G | p.Asp710Glu | p.D710E | Q02952 | protein_coding | tolerated(0.41) | benign(0.003) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| AKAP12 | SNV | Missense_Mutation | novel | c.3154N>C | p.Glu1052Gln | p.E1052Q | Q02952 | protein_coding | tolerated(0.08) | benign(0.184) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| AKAP12 | SNV | Missense_Mutation | novel | c.386N>T | p.Ala129Val | p.A129V | Q02952 | protein_coding | tolerated(0.31) | benign(0.006) | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
| AKAP12 | SNV | Missense_Mutation | rs755923718 | c.5335N>T | p.Leu1779Phe | p.L1779F | Q02952 | protein_coding | tolerated_low_confidence(0.12) | benign(0.137) | TCGA-BH-A18Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 |
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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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