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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:001063131 | Thyroid | ATC | epithelial cell migration | 169/6293 | 357/18723 | 4.21e-08 | 7.69e-07 | 169 |
| GO:009013031 | Thyroid | ATC | tissue migration | 171/6293 | 365/18723 | 8.55e-08 | 1.47e-06 | 171 |
| GO:009013231 | Thyroid | ATC | epithelium migration | 169/6293 | 360/18723 | 8.57e-08 | 1.47e-06 | 169 |
| GO:003150316 | Thyroid | ATC | protein-containing complex localization | 108/6293 | 220/18723 | 1.33e-06 | 1.69e-05 | 108 |
| GO:001063231 | Thyroid | ATC | regulation of epithelial cell migration | 137/6293 | 292/18723 | 1.44e-06 | 1.77e-05 | 137 |
| GO:004354231 | Thyroid | ATC | endothelial cell migration | 127/6293 | 279/18723 | 2.14e-05 | 1.91e-04 | 127 |
| GO:000721915 | Thyroid | ATC | Notch signaling pathway | 79/6293 | 172/18723 | 5.08e-04 | 2.96e-03 | 79 |
| GO:004340926 | Thyroid | ATC | negative regulation of MAPK cascade | 82/6293 | 180/18723 | 5.51e-04 | 3.19e-03 | 82 |
| GO:001059431 | Thyroid | ATC | regulation of endothelial cell migration | 102/6293 | 232/18723 | 6.17e-04 | 3.51e-03 | 102 |
| GO:004001316 | Thyroid | ATC | negative regulation of locomotion | 160/6293 | 391/18723 | 1.36e-03 | 7.07e-03 | 160 |
| GO:003508815 | Thyroid | ATC | establishment or maintenance of apical/basal cell polarity | 27/6293 | 49/18723 | 1.58e-03 | 7.99e-03 | 27 |
| GO:006124515 | Thyroid | ATC | establishment or maintenance of bipolar cell polarity | 27/6293 | 49/18723 | 1.58e-03 | 7.99e-03 | 27 |
| GO:003033616 | Thyroid | ATC | negative regulation of cell migration | 142/6293 | 344/18723 | 1.64e-03 | 8.22e-03 | 142 |
| GO:00457657 | Thyroid | ATC | regulation of angiogenesis | 141/6293 | 342/18723 | 1.80e-03 | 8.85e-03 | 141 |
| GO:19013427 | Thyroid | ATC | regulation of vasculature development | 143/6293 | 348/18723 | 1.95e-03 | 9.44e-03 | 143 |
| GO:005127117 | Thyroid | ATC | negative regulation of cellular component movement | 150/6293 | 367/18723 | 1.99e-03 | 9.54e-03 | 150 |
| GO:200014617 | Thyroid | ATC | negative regulation of cell motility | 147/6293 | 359/18723 | 2.01e-03 | 9.60e-03 | 147 |
| GO:004519715 | Thyroid | ATC | establishment or maintenance of epithelial cell apical/basal polarity | 24/6293 | 44/18723 | 3.39e-03 | 1.52e-02 | 24 |
| GO:0050673111 | Thyroid | ATC | epithelial cell proliferation | 174/6293 | 437/18723 | 3.49e-03 | 1.55e-02 | 174 |
| GO:0050678110 | Thyroid | ATC | regulation of epithelial cell proliferation | 151/6293 | 381/18723 | 7.47e-03 | 2.92e-02 | 151 |
| 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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