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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 | novel | c.412N>A | p.Gln138Lys | p.Q138K | Q6TFL3 | protein_coding | tolerated(0.21) | benign(0.015) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CCDC171 | SNV | Missense_Mutation | novel | c.638N>T | p.Trp213Leu | p.W213L | Q6TFL3 | protein_coding | tolerated(0.34) | probably_damaging(0.991) | TCGA-AC-A3W5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
CCDC171 | SNV | Missense_Mutation | rs766978058 | c.3005N>A | p.Arg1002Gln | p.R1002Q | Q6TFL3 | protein_coding | tolerated(0.43) | benign(0.007) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC171 | SNV | Missense_Mutation | c.2477N>A | p.Thr826Asn | p.T826N | Q6TFL3 | protein_coding | deleterious(0.01) | possibly_damaging(0.73) | TCGA-AN-A0FT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
CCDC171 | SNV | Missense_Mutation | novel | c.3729N>T | p.Leu1243Phe | p.L1243F | Q6TFL3 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC171 | SNV | Missense_Mutation | rs143745985 | c.2969G>A | p.Arg990His | p.R990H | Q6TFL3 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-E9-A248-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
CCDC171 | SNV | Missense_Mutation | c.370C>G | p.Gln124Glu | p.Q124E | Q6TFL3 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
CCDC171 | deletion | Frame_Shift_Del | c.2930_2931delTT | p.Leu977ArgfsTer29 | p.L977Rfs*29 | Q6TFL3 | protein_coding | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |||
CCDC171 | deletion | Frame_Shift_Del | c.74delN | p.Ile25AsnfsTer26 | p.I25Nfs*26 | Q6TFL3 | protein_coding | TCGA-A2-A25D-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD | |||
CCDC171 | insertion | Nonsense_Mutation | novel | c.3730_3731insTGTA | p.Arg1244LeufsTer2 | p.R1244Lfs*2 | Q6TFL3 | protein_coding | TCGA-AR-A0U0-01 | Breast | breast invasive 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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