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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 |
| Page: 1 2 3 4 |
| 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:000166710 | Endometrium | AEH | ameboidal-type cell migration | 90/2100 | 475/18723 | 3.73e-07 | 1.57e-05 | 90 |
| GO:00434105 | Endometrium | AEH | positive regulation of MAPK cascade | 84/2100 | 480/18723 | 2.19e-05 | 4.25e-04 | 84 |
| GO:000223710 | Endometrium | AEH | response to molecule of bacterial origin | 65/2100 | 363/18723 | 9.00e-05 | 1.30e-03 | 65 |
| GO:003249610 | Endometrium | AEH | response to lipopolysaccharide | 62/2100 | 343/18723 | 9.82e-05 | 1.41e-03 | 62 |
| GO:00107616 | Endometrium | AEH | fibroblast migration | 14/2100 | 47/18723 | 4.51e-04 | 4.76e-03 | 14 |
| GO:007135610 | Endometrium | AEH | cellular response to tumor necrosis factor | 41/2100 | 229/18723 | 1.66e-03 | 1.36e-02 | 41 |
| GO:003461210 | Endometrium | AEH | response to tumor necrosis factor | 44/2100 | 253/18723 | 2.08e-03 | 1.61e-02 | 44 |
| GO:00018198 | Endometrium | AEH | positive regulation of cytokine production | 71/2100 | 467/18723 | 4.76e-03 | 3.02e-02 | 71 |
| GO:00705555 | Endometrium | AEH | response to interleukin-1 | 26/2100 | 143/18723 | 8.78e-03 | 4.78e-02 | 26 |
| GO:000166716 | Endometrium | EEC | ameboidal-type cell migration | 91/2168 | 475/18723 | 7.87e-07 | 2.80e-05 | 91 |
| GO:004341011 | Endometrium | EEC | positive regulation of MAPK cascade | 89/2168 | 480/18723 | 4.21e-06 | 1.08e-04 | 89 |
| GO:000223714 | Endometrium | EEC | response to molecule of bacterial origin | 68/2168 | 363/18723 | 3.96e-05 | 6.64e-04 | 68 |
| GO:003249614 | Endometrium | EEC | response to lipopolysaccharide | 65/2168 | 343/18723 | 4.04e-05 | 6.75e-04 | 65 |
| GO:007135615 | Endometrium | EEC | cellular response to tumor necrosis factor | 45/2168 | 229/18723 | 2.54e-04 | 2.94e-03 | 45 |
| GO:003461215 | Endometrium | EEC | response to tumor necrosis factor | 48/2168 | 253/18723 | 3.77e-04 | 4.03e-03 | 48 |
| GO:001076112 | Endometrium | EEC | fibroblast migration | 14/2168 | 47/18723 | 6.25e-04 | 6.14e-03 | 14 |
| GO:000181913 | Endometrium | EEC | positive regulation of cytokine production | 73/2168 | 467/18723 | 4.64e-03 | 2.97e-02 | 73 |
| GO:007055511 | Endometrium | EEC | response to interleukin-1 | 27/2168 | 143/18723 | 6.99e-03 | 4.01e-02 | 27 |
| GO:0051767 | Endometrium | EEC | nitric-oxide synthase biosynthetic process | 7/2168 | 21/18723 | 7.38e-03 | 4.15e-02 | 7 |
| GO:0051769 | Endometrium | EEC | regulation of nitric-oxide synthase biosynthetic process | 7/2168 | 21/18723 | 7.38e-03 | 4.15e-02 | 7 |
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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. |
| 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 |
| 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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