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Gene: RSPRY1 |
Gene summary for RSPRY1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | RSPRY1 | Gene ID | 89970 |
| Gene name | ring finger and SPRY domain containing 1 | |
| Gene Alias | SEMDFA | |
| Cytomap | 16q13 | |
| Gene Type | protein-coding | GO ID | GO:0006464 | UniProtAcc | A0A024R6U0 |
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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 |
| 89970 | RSPRY1 | LZE4T | Human | Esophagus | ESCC | 1.87e-12 | 4.44e-01 | 0.0811 |
| 89970 | RSPRY1 | LZE7T | Human | Esophagus | ESCC | 2.16e-09 | 5.13e-01 | 0.0667 |
| 89970 | RSPRY1 | LZE8T | Human | Esophagus | ESCC | 8.61e-13 | 4.64e-01 | 0.067 |
| 89970 | RSPRY1 | LZE20T | Human | Esophagus | ESCC | 1.29e-07 | 1.40e-01 | 0.0662 |
| 89970 | RSPRY1 | LZE24T | Human | Esophagus | ESCC | 7.85e-18 | 4.39e-01 | 0.0596 |
| 89970 | RSPRY1 | P1T-E | Human | Esophagus | ESCC | 1.57e-08 | 3.36e-01 | 0.0875 |
| 89970 | RSPRY1 | P2T-E | Human | Esophagus | ESCC | 1.34e-18 | 3.82e-01 | 0.1177 |
| 89970 | RSPRY1 | P4T-E | Human | Esophagus | ESCC | 1.79e-34 | 6.81e-01 | 0.1323 |
| 89970 | RSPRY1 | P5T-E | Human | Esophagus | ESCC | 5.01e-13 | 2.21e-01 | 0.1327 |
| 89970 | RSPRY1 | P8T-E | Human | Esophagus | ESCC | 2.95e-34 | 6.30e-01 | 0.0889 |
| 89970 | RSPRY1 | P9T-E | Human | Esophagus | ESCC | 7.44e-15 | 2.83e-01 | 0.1131 |
| 89970 | RSPRY1 | P10T-E | Human | Esophagus | ESCC | 3.82e-28 | 5.94e-01 | 0.116 |
| 89970 | RSPRY1 | P11T-E | Human | Esophagus | ESCC | 3.95e-19 | 5.51e-01 | 0.1426 |
| 89970 | RSPRY1 | P12T-E | Human | Esophagus | ESCC | 4.00e-25 | 4.53e-01 | 0.1122 |
| 89970 | RSPRY1 | P15T-E | Human | Esophagus | ESCC | 1.92e-33 | 6.35e-01 | 0.1149 |
| 89970 | RSPRY1 | P16T-E | Human | Esophagus | ESCC | 5.50e-22 | 3.24e-01 | 0.1153 |
| 89970 | RSPRY1 | P17T-E | Human | Esophagus | ESCC | 1.70e-06 | 4.69e-01 | 0.1278 |
| 89970 | RSPRY1 | P19T-E | Human | Esophagus | ESCC | 5.79e-08 | 3.56e-01 | 0.1662 |
| 89970 | RSPRY1 | P20T-E | Human | Esophagus | ESCC | 2.27e-27 | 7.35e-01 | 0.1124 |
| 89970 | RSPRY1 | P21T-E | Human | Esophagus | ESCC | 9.85e-27 | 5.35e-01 | 0.1617 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| 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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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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 |
| RSPRY1 | insertion | Nonsense_Mutation | novel | c.634_635insTTCATAATGGCATCTGAGTGGGTTTAATCTGTTTAGTGATTCAAG | p.Lys212delinsIleHisAsnGlyIleTerValGlyLeuIleCysLeuValIleGlnGlu | p.K212delinsIHNGI*VGLICLVIQE | Q96DX4 | protein_coding | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| RSPRY1 | deletion | Frame_Shift_Del | novel | c.1726delT | p.Ser576HisfsTer29 | p.S576Hfs*29 | Q96DX4 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
| RSPRY1 | SNV | Missense_Mutation | rs757545989 | c.70N>A | p.Glu24Lys | p.E24K | Q96DX4 | protein_coding | tolerated_low_confidence(0.64) | benign(0.019) | TCGA-C5-A3HD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| RSPRY1 | SNV | Missense_Mutation | rs200607629 | c.140N>A | p.Arg47Gln | p.R47Q | Q96DX4 | protein_coding | deleterious(0.02) | possibly_damaging(0.449) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
| RSPRY1 | SNV | Missense_Mutation | c.910N>A | p.Glu304Lys | p.E304K | Q96DX4 | protein_coding | deleterious(0.01) | benign(0.219) | TCGA-Q1-A5R2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PR | |
| RSPRY1 | SNV | Missense_Mutation | c.1141N>A | p.Asp381Asn | p.D381N | Q96DX4 | protein_coding | tolerated(0.53) | benign(0.115) | TCGA-AA-3939-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| RSPRY1 | SNV | Missense_Mutation | c.1544N>T | p.Ala515Val | p.A515V | Q96DX4 | protein_coding | tolerated(0.08) | possibly_damaging(0.718) | TCGA-CM-5868-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD | |
| RSPRY1 | SNV | Missense_Mutation | c.550N>G | p.Leu184Val | p.L184V | Q96DX4 | protein_coding | tolerated(0.05) | benign(0.062) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RSPRY1 | SNV | Missense_Mutation | c.620N>A | p.Gly207Asp | p.G207D | Q96DX4 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-A5-A0GW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| RSPRY1 | SNV | Missense_Mutation | novel | c.811C>T | p.Arg271Trp | p.R271W | Q96DX4 | protein_coding | deleterious(0.02) | benign(0.394) | 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 |
| Page: 1 |
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