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Gene: SPESP1 |
Gene summary for SPESP1 |
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Gene information | Species | Human | Gene symbol | SPESP1 | Gene ID | 246777 |
Gene name | sperm equatorial segment protein 1 | |
Gene Alias | ESP | |
Cytomap | 15q23 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q6UW49 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
246777 | SPESP1 | HCC2 | Human | Liver | HCC | 7.92e-14 | 2.79e+00 | 0.5341 |
246777 | SPESP1 | S014 | Human | Liver | HCC | 2.93e-19 | 5.69e-01 | 0.2254 |
246777 | SPESP1 | S015 | Human | Liver | HCC | 1.59e-19 | 7.28e-01 | 0.2375 |
246777 | SPESP1 | S016 | Human | Liver | HCC | 1.76e-21 | 5.86e-01 | 0.2243 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0061025 | Liver | HCC | membrane fusion | 88/7958 | 163/18723 | 1.98e-03 | 1.00e-02 | 88 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
SPESP1 | SNV | Missense_Mutation | c.748N>C | p.Tyr250His | p.Y250H | Q6UW49 | protein_coding | tolerated(0.05) | benign(0.007) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
SPESP1 | SNV | Missense_Mutation | c.670N>C | p.Asp224His | p.D224H | Q6UW49 | protein_coding | deleterious(0.01) | possibly_damaging(0.891) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
SPESP1 | SNV | Missense_Mutation | rs756017314 | c.52C>T | p.Pro18Ser | p.P18S | Q6UW49 | protein_coding | tolerated(0.47) | possibly_damaging(0.866) | TCGA-PL-A8LX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SPESP1 | SNV | Missense_Mutation | rs775466523 | c.134N>A | p.Arg45Gln | p.R45Q | Q6UW49 | protein_coding | deleterious(0.05) | benign(0.026) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SPESP1 | SNV | Missense_Mutation | c.814G>A | p.Glu272Lys | p.E272K | Q6UW49 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
SPESP1 | SNV | Missense_Mutation | c.969N>A | p.Met323Ile | p.M323I | Q6UW49 | protein_coding | deleterious(0.01) | benign(0.208) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
SPESP1 | insertion | Frame_Shift_Ins | rs774469242 | c.336_337insA | p.His115ThrfsTer27 | p.H115Tfs*27 | Q6UW49 | protein_coding | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | ||
SPESP1 | SNV | Missense_Mutation | c.617C>A | p.Thr206Asn | p.T206N | Q6UW49 | protein_coding | tolerated(0.33) | benign(0.006) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
SPESP1 | SNV | Missense_Mutation | c.1015A>G | p.Arg339Gly | p.R339G | Q6UW49 | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD | |
SPESP1 | SNV | Missense_Mutation | novel | c.799N>A | p.Leu267Ile | p.L267I | Q6UW49 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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