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Gene: MACF1 |
Gene summary for MACF1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MACF1 | Gene ID | 23499 |
| Gene name | microtubule actin crosslinking factor 1 | |
| Gene Alias | ABP620 | |
| Cytomap | 1p34.3 | |
| Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | Q6ZSD7 |
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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 |
| 23499 | MACF1 | CA_HPV_1 | Human | Cervix | CC | 1.75e-09 | -6.32e-03 | 0.0264 |
| 23499 | MACF1 | CA_HPV_2 | Human | Cervix | CC | 3.26e-04 | 2.58e-01 | 0.0391 |
| 23499 | MACF1 | CA_HPV_3 | Human | Cervix | CC | 3.75e-06 | 1.95e-01 | 0.0414 |
| 23499 | MACF1 | CCI_1 | Human | Cervix | CC | 3.10e-07 | 1.90e+00 | 0.528 |
| 23499 | MACF1 | CCI_3 | Human | Cervix | CC | 4.30e-07 | 8.53e-01 | 0.516 |
| 23499 | MACF1 | L1 | Human | Cervix | CC | 2.02e-03 | -2.11e-01 | 0.0802 |
| 23499 | MACF1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 5.53e-07 | -5.00e-01 | 0.0155 |
| 23499 | MACF1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.58e-02 | 3.33e-01 | -0.1954 |
| 23499 | MACF1 | HTA11_411_2000001011 | Human | Colorectum | SER | 7.52e-04 | 7.96e-01 | -0.2602 |
| 23499 | MACF1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.60e-06 | -4.24e-01 | -0.1207 |
| 23499 | MACF1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 3.32e-02 | -2.85e-01 | 0.3005 |
| 23499 | MACF1 | A001-C-207 | Human | Colorectum | FAP | 1.19e-03 | 7.55e-02 | 0.1278 |
| 23499 | MACF1 | A015-C-203 | Human | Colorectum | FAP | 3.23e-32 | -1.08e-01 | -0.1294 |
| 23499 | MACF1 | A015-C-204 | Human | Colorectum | FAP | 5.53e-03 | -3.77e-02 | -0.0228 |
| 23499 | MACF1 | A014-C-040 | Human | Colorectum | FAP | 8.51e-03 | -2.24e-01 | -0.1184 |
| 23499 | MACF1 | A002-C-201 | Human | Colorectum | FAP | 7.61e-10 | -5.76e-02 | 0.0324 |
| 23499 | MACF1 | A002-C-203 | Human | Colorectum | FAP | 7.70e-04 | -2.80e-02 | 0.2786 |
| 23499 | MACF1 | A001-C-119 | Human | Colorectum | FAP | 9.67e-17 | 3.38e-01 | -0.1557 |
| 23499 | MACF1 | A001-C-108 | Human | Colorectum | FAP | 2.71e-18 | 2.76e-01 | -0.0272 |
| 23499 | MACF1 | A002-C-205 | Human | Colorectum | FAP | 6.91e-27 | 6.46e-02 | -0.1236 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| 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 |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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:00486388 | Prostate | BPH | regulation of developmental growth | 74/3107 | 330/18723 | 3.43e-03 | 1.76e-02 | 74 |
| GO:00507706 | Prostate | BPH | regulation of axonogenesis | 39/3107 | 154/18723 | 3.65e-03 | 1.85e-02 | 39 |
| GO:00430017 | Prostate | BPH | Golgi to plasma membrane protein transport | 14/3107 | 40/18723 | 3.68e-03 | 1.85e-02 | 14 |
| GO:00507726 | Prostate | BPH | positive regulation of axonogenesis | 23/3107 | 79/18723 | 3.81e-03 | 1.91e-02 | 23 |
| GO:00457736 | Prostate | BPH | positive regulation of axon extension | 14/3107 | 42/18723 | 6.05e-03 | 2.78e-02 | 14 |
| GO:004819314 | Prostate | Tumor | Golgi vesicle transport | 105/3246 | 296/18723 | 3.55e-14 | 4.33e-12 | 105 |
| GO:002260418 | Prostate | Tumor | regulation of cell morphogenesis | 102/3246 | 309/18723 | 1.25e-11 | 9.49e-10 | 102 |
| GO:015011516 | Prostate | Tumor | cell-substrate junction organization | 46/3246 | 101/18723 | 4.27e-11 | 2.82e-09 | 46 |
| GO:004206019 | Prostate | Tumor | wound healing | 127/3246 | 422/18723 | 5.32e-11 | 3.41e-09 | 127 |
| GO:001605514 | Prostate | Tumor | Wnt signaling pathway | 131/3246 | 444/18723 | 1.16e-10 | 7.11e-09 | 131 |
| GO:019873814 | Prostate | Tumor | cell-cell signaling by wnt | 131/3246 | 446/18723 | 1.61e-10 | 9.69e-09 | 131 |
| GO:000704415 | Prostate | Tumor | cell-substrate junction assembly | 43/3246 | 95/18723 | 2.33e-10 | 1.34e-08 | 43 |
| GO:001604916 | Prostate | Tumor | cell growth | 137/3246 | 482/18723 | 7.01e-10 | 3.51e-08 | 137 |
| GO:003158916 | Prostate | Tumor | cell-substrate adhesion | 109/3246 | 363/18723 | 1.41e-09 | 6.71e-08 | 109 |
| GO:007265917 | Prostate | Tumor | protein localization to plasma membrane | 90/3246 | 284/18723 | 2.07e-09 | 8.99e-08 | 90 |
| GO:015011616 | Prostate | Tumor | regulation of cell-substrate junction organization | 34/3246 | 71/18723 | 2.86e-09 | 1.18e-07 | 34 |
| GO:003011114 | Prostate | Tumor | regulation of Wnt signaling pathway | 99/3246 | 328/18723 | 5.92e-09 | 2.34e-07 | 99 |
| GO:001081018 | Prostate | Tumor | regulation of cell-substrate adhesion | 73/3246 | 221/18723 | 9.68e-09 | 3.62e-07 | 73 |
| GO:009013217 | Prostate | Tumor | epithelium migration | 105/3246 | 360/18723 | 1.57e-08 | 5.62e-07 | 105 |
| GO:009013017 | Prostate | Tumor | tissue migration | 106/3246 | 365/18723 | 1.73e-08 | 6.10e-07 | 106 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 |
| 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 |
| MACF1 | SNV | Missense_Mutation | novel | c.7798N>G | p.Gln2600Glu | p.Q2600E | Q9UPN3 | protein_coding | tolerated(0.13) | benign(0.006) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| MACF1 | SNV | Missense_Mutation | c.8631N>C | p.Glu2877Asp | p.E2877D | Q9UPN3 | protein_coding | tolerated(0.1) | benign(0.054) | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| MACF1 | SNV | Missense_Mutation | rs761570070 | c.14837N>A | p.Arg4946Gln | p.R4946Q | Q9UPN3 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| MACF1 | SNV | Missense_Mutation | novel | c.6629N>T | p.Thr2210Ile | p.T2210I | Q9UPN3 | protein_coding | deleterious(0.04) | benign(0.211) | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
| MACF1 | SNV | Missense_Mutation | c.14091N>T | p.Lys4697Asn | p.K4697N | Q9UPN3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MACF1 | SNV | Missense_Mutation | novel | c.13989G>T | p.Lys4663Asn | p.K4663N | Q9UPN3 | protein_coding | tolerated(0.07) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MACF1 | SNV | Missense_Mutation | rs749774177 | c.14554N>A | p.Asp4852Asn | p.D4852N | Q9UPN3 | protein_coding | tolerated(0.08) | probably_damaging(0.937) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MACF1 | SNV | Missense_Mutation | c.12536N>A | p.Cys4179Tyr | p.C4179Y | Q9UPN3 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| MACF1 | SNV | Missense_Mutation | c.470N>A | p.Arg157His | p.R157H | Q9UPN3 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| MACF1 | SNV | Missense_Mutation | novel | c.5482N>C | p.Glu1828Gln | p.E1828Q | Q9UPN3 | protein_coding | tolerated(0.06) | possibly_damaging(0.521) | TCGA-BH-A0B6-01 | 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 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 |
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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 |
| Page: 1 |
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