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Gene: JSRP1 |
Gene summary for JSRP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | JSRP1 | Gene ID | 126306 |
| Gene name | junctional sarcoplasmic reticulum protein 1 | |
| Gene Alias | JP-45 | |
| Cytomap | 19p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q96MG2 |
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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 |
| 126306 | JSRP1 | LP16 | Human | Oral cavity | LP | 4.44e-03 | 1.00e+00 | 0.1055 |
| 126306 | JSRP1 | SYSMH5 | Human | Oral cavity | OSCC | 1.86e-02 | 2.77e-01 | 0.0647 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:005123518 | Oral cavity | OSCC | maintenance of location | 182/7305 | 327/18723 | 6.16e-10 | 1.58e-08 | 182 |
| GO:005165120 | Oral cavity | OSCC | maintenance of location in cell | 121/7305 | 214/18723 | 1.39e-07 | 2.32e-06 | 121 |
| GO:005123519 | Oral cavity | LP | maintenance of location | 111/4623 | 327/18723 | 9.62e-05 | 1.20e-03 | 111 |
| GO:0051651110 | Oral cavity | LP | maintenance of location in cell | 74/4623 | 214/18723 | 7.18e-04 | 6.41e-03 | 74 |
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| 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 |
| JSRP1 | SNV | Missense_Mutation | novel | c.777N>C | p.Glu259Asp | p.E259D | Q96MG2 | protein_coding | tolerated(0.09) | probably_damaging(0.915) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| JSRP1 | SNV | Missense_Mutation | novel | c.586N>A | p.Glu196Lys | p.E196K | Q96MG2 | protein_coding | tolerated(0.18) | benign(0.007) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| JSRP1 | SNV | Missense_Mutation | c.671N>A | p.Arg224Gln | p.R224Q | Q96MG2 | protein_coding | tolerated(0.19) | benign(0.014) | TCGA-AA-3866-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| JSRP1 | SNV | Missense_Mutation | rs150323105 | c.40G>A | p.Gly14Ser | p.G14S | Q96MG2 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| JSRP1 | SNV | Missense_Mutation | rs539381800 | c.802N>T | p.Arg268Trp | p.R268W | Q96MG2 | protein_coding | tolerated(0.07) | benign(0.094) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| JSRP1 | SNV | Missense_Mutation | c.736C>T | p.Arg246Trp | p.R246W | Q96MG2 | protein_coding | deleterious(0.02) | probably_damaging(0.928) | TCGA-D5-6536-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | 5-fu | SD | |
| JSRP1 | SNV | Missense_Mutation | novel | c.976N>A | p.Ala326Thr | p.A326T | Q96MG2 | protein_coding | tolerated(0.15) | benign(0.011) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| JSRP1 | SNV | Missense_Mutation | novel | c.751N>T | p.Arg251Trp | p.R251W | Q96MG2 | protein_coding | deleterious(0.01) | possibly_damaging(0.859) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
| JSRP1 | SNV | Missense_Mutation | novel | c.4T>C | p.Ser2Pro | p.S2P | Q96MG2 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.858) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| JSRP1 | SNV | Missense_Mutation | novel | c.220G>T | p.Gly74Trp | p.G74W | Q96MG2 | protein_coding | deleterious(0.02) | possibly_damaging(0.853) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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 |
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