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Gene: RSPH1 |
Gene summary for RSPH1 |
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Gene information | Species | Human | Gene symbol | RSPH1 | Gene ID | 89765 |
Gene name | radial spoke head component 1 | |
Gene Alias | CT79 | |
Cytomap | 21q22.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q8WYR4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
89765 | RSPH1 | AEH-subject3 | Human | Endometrium | AEH | 6.66e-21 | 6.24e-01 | -0.2576 |
89765 | RSPH1 | AEH-subject4 | Human | Endometrium | AEH | 6.02e-08 | 4.34e-01 | -0.2657 |
89765 | RSPH1 | EEC-subject2 | Human | Endometrium | EEC | 6.01e-03 | 2.20e-01 | -0.2607 |
89765 | RSPH1 | EEC-subject4 | Human | Endometrium | EEC | 7.31e-13 | 5.40e-01 | -0.2571 |
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Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![]() | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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 |
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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 |
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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 |
RSPH1 | SNV | Missense_Mutation | novel | c.19N>C | p.Glu7Gln | p.E7Q | Q8WYR4 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-AC-A3W7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
RSPH1 | SNV | Missense_Mutation | novel | c.831N>T | p.Glu277Asp | p.E277D | Q8WYR4 | protein_coding | tolerated_low_confidence(0.42) | benign(0.001) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RSPH1 | SNV | Missense_Mutation | rs778123315 | c.692N>T | p.Thr231Met | p.T231M | Q8WYR4 | protein_coding | tolerated(0.23) | benign(0.075) | TCGA-BH-A1FH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
RSPH1 | deletion | Frame_Shift_Del | novel | c.183delN | p.Phe61LeufsTer82 | p.F61Lfs*82 | Q8WYR4 | protein_coding | TCGA-BH-A8FZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
RSPH1 | SNV | Missense_Mutation | c.208N>C | p.Glu70Gln | p.E70Q | Q8WYR4 | protein_coding | tolerated(0.22) | benign(0.066) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
RSPH1 | SNV | Missense_Mutation | c.568N>T | p.Asp190Tyr | p.D190Y | Q8WYR4 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
RSPH1 | SNV | Missense_Mutation | c.133N>A | p.Glu45Lys | p.E45K | Q8WYR4 | protein_coding | tolerated(0.07) | possibly_damaging(0.79) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
RSPH1 | SNV | Missense_Mutation | rs769151189 | c.301N>A | p.Gly101Ser | p.G101S | Q8WYR4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RSPH1 | SNV | Missense_Mutation | novel | c.815N>C | p.Asp272Ala | p.D272A | Q8WYR4 | protein_coding | deleterious_low_confidence(0.05) | possibly_damaging(0.476) | TCGA-AY-4070-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fu | PD |
RSPH1 | SNV | Missense_Mutation | rs758004402 | c.97N>T | p.Arg33Cys | p.R33C | Q8WYR4 | protein_coding | tolerated(0.06) | possibly_damaging(0.594) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <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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