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Gene: CCDC171 |
Gene summary for CCDC171 |
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Gene information | Species | Human | Gene symbol | CCDC171 | Gene ID | 203238 |
Gene name | coiled-coil domain containing 171 | |
Gene Alias | C9orf93 | |
Cytomap | 9p22.3 | |
Gene Type | protein-coding | GO ID | NA | UniProtAcc | Q6TFL3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
203238 | CCDC171 | AEH-subject3 | Human | Endometrium | AEH | 3.82e-02 | 2.23e-01 | -0.2576 |
203238 | CCDC171 | AEH-subject4 | Human | Endometrium | AEH | 2.35e-04 | 3.26e-01 | -0.2657 |
203238 | CCDC171 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 2.09e-04 | -7.02e-02 | -0.1917 |
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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 |
CCDC171 | SNV | Missense_Mutation | c.650N>T | p.Arg217Ile | p.R217I | Q6TFL3 | protein_coding | tolerated(0.12) | probably_damaging(0.994) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CCDC171 | SNV | Missense_Mutation | novel | c.2423T>C | p.Val808Ala | p.V808A | Q6TFL3 | protein_coding | deleterious(0) | benign(0.169) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC171 | SNV | Missense_Mutation | c.2082A>C | p.Glu694Asp | p.E694D | Q6TFL3 | protein_coding | tolerated(0.17) | benign(0.007) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CCDC171 | SNV | Missense_Mutation | c.3566N>T | p.Gly1189Val | p.G1189V | Q6TFL3 | protein_coding | deleterious(0.03) | probably_damaging(0.993) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CCDC171 | SNV | Missense_Mutation | c.3583G>A | p.Glu1195Lys | p.E1195K | Q6TFL3 | protein_coding | deleterious(0) | possibly_damaging(0.636) | TCGA-D1-A16I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CCDC171 | SNV | Missense_Mutation | c.2547A>C | p.Lys849Asn | p.K849N | Q6TFL3 | protein_coding | tolerated(1) | benign(0) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CCDC171 | SNV | Missense_Mutation | novel | c.874N>T | p.Ala292Ser | p.A292S | Q6TFL3 | protein_coding | deleterious(0.04) | probably_damaging(0.994) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CCDC171 | SNV | Missense_Mutation | novel | c.3511N>G | p.Asn1171Asp | p.N1171D | Q6TFL3 | protein_coding | tolerated(0.09) | possibly_damaging(0.84) | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CCDC171 | SNV | Missense_Mutation | novel | c.1013N>C | p.Glu338Ala | p.E338A | Q6TFL3 | protein_coding | deleterious(0.01) | possibly_damaging(0.722) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC171 | SNV | Missense_Mutation | rs780511573 | c.3683N>A | p.Arg1228Gln | p.R1228Q | Q6TFL3 | protein_coding | tolerated(0.86) | benign(0.014) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | 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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