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Gene: SYNJ2BP |
Gene summary for SYNJ2BP |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SYNJ2BP | Gene ID | 55333 |
| Gene name | synaptojanin 2 binding protein | |
| Gene Alias | ARIP2 | |
| Cytomap | 14q24.2 | |
| Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | A0A024R670 |
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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 |
| 55333 | SYNJ2BP | HTA11_3410_2000001011 | Human | Colorectum | AD | 8.84e-19 | 3.29e-01 | 0.0155 |
| 55333 | SYNJ2BP | HTA11_2487_2000001011 | Human | Colorectum | SER | 5.21e-27 | 6.21e-01 | -0.1808 |
| 55333 | SYNJ2BP | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.34e-04 | 3.63e-01 | 0.0216 |
| 55333 | SYNJ2BP | HTA11_1938_2000001011 | Human | Colorectum | AD | 9.20e-32 | 8.68e-01 | -0.0811 |
| 55333 | SYNJ2BP | HTA11_78_2000001011 | Human | Colorectum | AD | 4.35e-37 | 9.35e-01 | -0.1088 |
| 55333 | SYNJ2BP | HTA11_347_2000001011 | Human | Colorectum | AD | 5.32e-75 | 1.36e+00 | -0.1954 |
| 55333 | SYNJ2BP | HTA11_411_2000001011 | Human | Colorectum | SER | 6.42e-18 | 1.13e+00 | -0.2602 |
| 55333 | SYNJ2BP | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.50e-04 | 4.24e-01 | -0.2196 |
| 55333 | SYNJ2BP | HTA11_3361_2000001011 | Human | Colorectum | AD | 9.32e-14 | 3.70e-01 | -0.1207 |
| 55333 | SYNJ2BP | HTA11_83_2000001011 | Human | Colorectum | SER | 1.40e-25 | 7.53e-01 | -0.1526 |
| 55333 | SYNJ2BP | HTA11_696_2000001011 | Human | Colorectum | AD | 2.28e-38 | 6.50e-01 | -0.1464 |
| 55333 | SYNJ2BP | HTA11_866_2000001011 | Human | Colorectum | AD | 6.22e-41 | 6.75e-01 | -0.1001 |
| 55333 | SYNJ2BP | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.21e-41 | 7.96e-01 | -0.059 |
| 55333 | SYNJ2BP | HTA11_2992_2000001011 | Human | Colorectum | SER | 2.52e-10 | 6.04e-01 | -0.1706 |
| 55333 | SYNJ2BP | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.13e-12 | 4.78e-01 | -0.2061 |
| 55333 | SYNJ2BP | HTA11_5216_2000001011 | Human | Colorectum | SER | 2.49e-08 | 4.15e-01 | -0.1462 |
| 55333 | SYNJ2BP | HTA11_546_2000001011 | Human | Colorectum | AD | 1.50e-17 | 5.91e-01 | -0.0842 |
| 55333 | SYNJ2BP | HTA11_9341_2000001011 | Human | Colorectum | SER | 1.86e-06 | 4.03e-01 | -0.00410000000000005 |
| 55333 | SYNJ2BP | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.13e-21 | 7.58e-01 | -0.0179 |
| 55333 | SYNJ2BP | HTA11_866_3004761011 | Human | Colorectum | AD | 1.47e-27 | 5.72e-01 | 0.096 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| 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 | ||
| 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:0007163 | Colorectum | AD | establishment or maintenance of cell polarity | 77/3918 | 218/18723 | 5.72e-07 | 2.08e-05 | 77 |
| GO:0001667 | Colorectum | AD | ameboidal-type cell migration | 137/3918 | 475/18723 | 2.17e-05 | 4.33e-04 | 137 |
| GO:0090132 | Colorectum | AD | epithelium migration | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
| GO:0010632 | Colorectum | AD | regulation of epithelial cell migration | 88/3918 | 292/18723 | 1.19e-04 | 1.75e-03 | 88 |
| GO:0010631 | Colorectum | AD | epithelial cell migration | 104/3918 | 357/18723 | 1.33e-04 | 1.90e-03 | 104 |
| GO:0090130 | Colorectum | AD | tissue migration | 105/3918 | 365/18723 | 2.10e-04 | 2.77e-03 | 105 |
| GO:0045197 | Colorectum | AD | establishment or maintenance of epithelial cell apical/basal polarity | 20/3918 | 44/18723 | 2.26e-04 | 2.94e-03 | 20 |
| GO:0035088 | Colorectum | AD | establishment or maintenance of apical/basal cell polarity | 21/3918 | 49/18723 | 4.31e-04 | 4.82e-03 | 21 |
| GO:0061245 | Colorectum | AD | establishment or maintenance of bipolar cell polarity | 21/3918 | 49/18723 | 4.31e-04 | 4.82e-03 | 21 |
| GO:0043409 | Colorectum | AD | negative regulation of MAPK cascade | 57/3918 | 180/18723 | 4.61e-04 | 5.14e-03 | 57 |
| GO:0050673 | Colorectum | AD | epithelial cell proliferation | 119/3918 | 437/18723 | 8.75e-04 | 8.51e-03 | 119 |
| GO:0043542 | Colorectum | AD | endothelial cell migration | 78/3918 | 279/18723 | 2.97e-03 | 2.22e-02 | 78 |
| GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
| GO:00071631 | Colorectum | SER | establishment or maintenance of cell polarity | 60/2897 | 218/18723 | 3.45e-06 | 1.33e-04 | 60 |
| GO:00016671 | Colorectum | SER | ameboidal-type cell migration | 105/2897 | 475/18723 | 6.97e-05 | 1.59e-03 | 105 |
| GO:00901321 | Colorectum | SER | epithelium migration | 82/2897 | 360/18723 | 1.50e-04 | 2.93e-03 | 82 |
| GO:00106311 | Colorectum | SER | epithelial cell migration | 81/2897 | 357/18723 | 1.87e-04 | 3.44e-03 | 81 |
| GO:00901301 | Colorectum | SER | tissue migration | 82/2897 | 365/18723 | 2.40e-04 | 4.12e-03 | 82 |
| GO:00106321 | Colorectum | SER | regulation of epithelial cell migration | 68/2897 | 292/18723 | 2.72e-04 | 4.53e-03 | 68 |
| GO:00451971 | Colorectum | SER | establishment or maintenance of epithelial cell apical/basal polarity | 16/2897 | 44/18723 | 5.64e-04 | 7.83e-03 | 16 |
| Page: 1 2 3 4 5 6 7 |
| 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 |
| SYNJ2BP | insertion | In_Frame_Ins | novel | c.107_108insGAAGTTACTTGTTCAAAAAGCACAAGGCAGGAAGCAGCGAGG | p.Val36_Ser37insLysLeuLeuValGlnLysAlaGlnGlyArgLysGlnArgGly | p.V36_S37insKLLVQKAQGRKQRG | P57105 | protein_coding | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| SYNJ2BP | SNV | Missense_Mutation | novel | c.349N>A | p.Gly117Ser | p.G117S | P57105 | protein_coding | tolerated(0.55) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| SYNJ2BP | SNV | Missense_Mutation | c.377N>T | p.Pro126Leu | p.P126L | P57105 | protein_coding | tolerated(0.07) | benign(0.23) | TCGA-AA-3852-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| SYNJ2BP | SNV | Missense_Mutation | novel | c.379G>T | p.Val127Leu | p.V127L | P57105 | protein_coding | tolerated(0.46) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| SYNJ2BP | SNV | Missense_Mutation | c.331G>T | p.Gly111Cys | p.G111C | P57105 | protein_coding | tolerated(0.05) | benign(0.219) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SYNJ2BP | SNV | Missense_Mutation | c.329N>A | p.Arg110Gln | p.R110Q | P57105 | protein_coding | tolerated(0.24) | benign(0.015) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| SYNJ2BP | SNV | Missense_Mutation | novel | c.16G>A | p.Asp6Asn | p.D6N | P57105 | protein_coding | tolerated(0.42) | benign(0.013) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| SYNJ2BP | SNV | Missense_Mutation | novel | c.85N>A | p.Gly29Ser | p.G29S | P57105 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SYNJ2BP | SNV | Missense_Mutation | rs201847524 | c.256N>T | p.Arg86Cys | p.R86C | P57105 | protein_coding | deleterious(0.04) | probably_damaging(0.967) | TCGA-53-7624-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
| SYNJ2BP | SNV | Missense_Mutation | c.344N>A | p.Pro115Gln | p.P115Q | P57105 | protein_coding | tolerated(0.05) | possibly_damaging(0.462) | TCGA-78-7163-01 | Lung | lung 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 |
| Page: 1 |
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