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Gene: SPATA5L1 |
Gene summary for SPATA5L1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SPATA5L1 | Gene ID | 79029 |
| Gene name | spermatogenesis associated 5 like 1 | |
| Gene Alias | SPATA5L1 | |
| Cytomap | 15q21.1 | |
| Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q9BVQ7 |
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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 |
| 79029 | SPATA5L1 | P83T-E | Human | Esophagus | ESCC | 1.16e-16 | 4.56e-01 | 0.1738 |
| 79029 | SPATA5L1 | P84T-E | Human | Esophagus | ESCC | 1.42e-02 | 3.29e-01 | 0.0933 |
| 79029 | SPATA5L1 | P89T-E | Human | Esophagus | ESCC | 1.57e-04 | 3.94e-01 | 0.1752 |
| 79029 | SPATA5L1 | P91T-E | Human | Esophagus | ESCC | 3.16e-03 | 5.19e-01 | 0.1828 |
| 79029 | SPATA5L1 | P107T-E | Human | Esophagus | ESCC | 1.17e-15 | 3.29e-01 | 0.171 |
| 79029 | SPATA5L1 | P126T-E | Human | Esophagus | ESCC | 5.03e-03 | 3.87e-01 | 0.1125 |
| 79029 | SPATA5L1 | P127T-E | Human | Esophagus | ESCC | 4.02e-02 | 2.81e-02 | 0.0826 |
| 79029 | SPATA5L1 | P128T-E | Human | Esophagus | ESCC | 3.23e-13 | 5.11e-01 | 0.1241 |
| 79029 | SPATA5L1 | P130T-E | Human | Esophagus | ESCC | 2.89e-13 | 2.26e-01 | 0.1676 |
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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 |
| ∗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 |
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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 |
| SPATA5L1 | SNV | Missense_Mutation | c.1451N>G | p.Leu484Arg | p.L484R | Q9BVQ7 | protein_coding | deleterious(0) | possibly_damaging(0.866) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| SPATA5L1 | SNV | Missense_Mutation | rs548685321 | c.1349G>A | p.Arg450Gln | p.R450Q | Q9BVQ7 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SPATA5L1 | SNV | Missense_Mutation | c.1676N>T | p.Ala559Val | p.A559V | Q9BVQ7 | protein_coding | deleterious(0.02) | possibly_damaging(0.901) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| SPATA5L1 | SNV | Missense_Mutation | c.1282G>T | p.Asp428Tyr | p.D428Y | Q9BVQ7 | protein_coding | deleterious(0.03) | benign(0.163) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD | |
| SPATA5L1 | deletion | In_Frame_Del | novel | c.16_30delNNNNNNNNNNNNNNN | p.Asp6_Glu10del | p.D6_E10del | Q9BVQ7 | protein_coding | TCGA-A7-A4SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | ||
| SPATA5L1 | deletion | Frame_Shift_Del | novel | c.1184delN | p.Ala397GlnfsTer3 | p.A397Qfs*3 | Q9BVQ7 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| SPATA5L1 | SNV | Missense_Mutation | novel | c.1247N>T | p.Ala416Val | p.A416V | Q9BVQ7 | protein_coding | deleterious(0.01) | benign(0.312) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| SPATA5L1 | insertion | Frame_Shift_Ins | novel | c.1647_1651dupATTTC | p.Arg551HisfsTer43 | p.R551Hfs*43 | Q9BVQ7 | protein_coding | TCGA-C5-A7CJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | ||
| SPATA5L1 | insertion | Frame_Shift_Ins | novel | c.2210dupT | p.Leu737PhefsTer3 | p.L737Ffs*3 | Q9BVQ7 | protein_coding | TCGA-C5-A905-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | ||
| SPATA5L1 | deletion | In_Frame_Del | novel | c.494_499delNNNNNN | p.Ile165_Gly167delinsSer | p.I165_G167delinsS | Q9BVQ7 | protein_coding | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
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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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