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Gene: POPDC3 |
Gene summary for POPDC3 |
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Gene information | Species | Human | Gene symbol | POPDC3 | Gene ID | 64208 |
Gene name | popeye domain containing 3 | |
Gene Alias | LGMDR26 | |
Cytomap | 6q21 | |
Gene Type | protein-coding | GO ID | GO:0007275 | UniProtAcc | Q9HBV1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
64208 | POPDC3 | P107T-E | Human | Esophagus | ESCC | 6.92e-57 | 1.29e+00 | 0.171 |
64208 | POPDC3 | P126T-E | Human | Esophagus | ESCC | 7.86e-04 | 3.96e-01 | 0.1125 |
64208 | POPDC3 | HCC1_Meng | Human | Liver | HCC | 5.82e-24 | 8.36e-02 | 0.0246 |
64208 | POPDC3 | S014 | Human | Liver | HCC | 5.98e-30 | 7.07e-01 | 0.2254 |
64208 | POPDC3 | S015 | Human | Liver | HCC | 1.51e-25 | 6.85e-01 | 0.2375 |
64208 | POPDC3 | S016 | Human | Liver | HCC | 6.12e-28 | 6.14e-01 | 0.2243 |
64208 | POPDC3 | C04 | Human | Oral cavity | OSCC | 1.53e-11 | 6.64e-01 | 0.2633 |
64208 | POPDC3 | C21 | Human | Oral cavity | OSCC | 1.28e-28 | 9.46e-01 | 0.2678 |
64208 | POPDC3 | C30 | Human | Oral cavity | OSCC | 5.91e-58 | 2.80e+00 | 0.3055 |
64208 | POPDC3 | C51 | Human | Oral cavity | OSCC | 5.03e-07 | 4.45e-01 | 0.2674 |
64208 | POPDC3 | C06 | Human | Oral cavity | OSCC | 2.57e-03 | 6.26e-01 | 0.2699 |
64208 | POPDC3 | C07 | Human | Oral cavity | OSCC | 1.43e-03 | 5.64e-01 | 0.2491 |
64208 | POPDC3 | SYSMH1 | Human | Oral cavity | OSCC | 1.58e-22 | 3.50e-01 | 0.1127 |
64208 | POPDC3 | SYSMH2 | Human | Oral cavity | OSCC | 1.78e-03 | 1.65e-01 | 0.2326 |
64208 | POPDC3 | SYSMH3 | Human | Oral cavity | OSCC | 2.88e-09 | 2.76e-01 | 0.2442 |
64208 | POPDC3 | P10_cSCC | Human | Skin | cSCC | 4.28e-10 | 2.86e-01 | 0.1017 |
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∗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:006053716 | Esophagus | ESCC | muscle tissue development | 211/8552 | 403/18723 | 3.84e-03 | 1.56e-02 | 211 |
GO:001470615 | Esophagus | ESCC | striated muscle tissue development | 197/8552 | 384/18723 | 1.46e-02 | 4.74e-02 | 197 |
GO:00605378 | Oral cavity | OSCC | muscle tissue development | 185/7305 | 403/18723 | 2.60e-03 | 1.14e-02 | 185 |
GO:00426927 | Oral cavity | OSCC | muscle cell differentiation | 175/7305 | 384/18723 | 4.79e-03 | 1.92e-02 | 175 |
GO:00147067 | Oral cavity | OSCC | striated muscle tissue development | 174/7305 | 384/18723 | 6.45e-03 | 2.40e-02 | 174 |
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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 |
POPDC3 | SNV | Missense_Mutation | c.141C>A | p.Phe47Leu | p.F47L | Q9HBV1 | protein_coding | tolerated(0.37) | benign(0.01) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
POPDC3 | SNV | Missense_Mutation | rs143330551 | c.383N>T | p.Thr128Met | p.T128M | Q9HBV1 | protein_coding | deleterious(0.03) | benign(0.003) | TCGA-D8-A1XO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
POPDC3 | SNV | Missense_Mutation | novel | c.415N>C | p.Glu139Gln | p.E139Q | Q9HBV1 | protein_coding | tolerated(0.27) | possibly_damaging(0.486) | TCGA-E2-A9RU-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
POPDC3 | SNV | Missense_Mutation | rs779659706 | c.37N>A | p.Asp13Asn | p.D13N | Q9HBV1 | protein_coding | tolerated(0.32) | benign(0.003) | TCGA-E2-A9RU-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
POPDC3 | SNV | Missense_Mutation | novel | c.553G>A | p.Glu185Lys | p.E185K | Q9HBV1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
POPDC3 | SNV | Missense_Mutation | rs757703112 | c.76G>A | p.Glu26Lys | p.E26K | Q9HBV1 | protein_coding | deleterious(0) | possibly_damaging(0.557) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
POPDC3 | insertion | In_Frame_Ins | novel | c.83_84insTTTACTTTGCATAACTGCGTATTTAGGAATTAAAAT | p.Ala28_Ile29insLeuLeuCysIleThrAlaTyrLeuGlyIleLysIle | p.A28_I29insLLCITAYLGIKI | Q9HBV1 | protein_coding | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | CR | |||
POPDC3 | SNV | Missense_Mutation | c.563C>T | p.Ser188Leu | p.S188L | Q9HBV1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
POPDC3 | SNV | Missense_Mutation | c.562T>A | p.Ser188Thr | p.S188T | Q9HBV1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EA-A43B-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
POPDC3 | SNV | Missense_Mutation | rs200001271 | c.623N>A | p.Arg208Gln | p.R208Q | Q9HBV1 | protein_coding | tolerated(0.15) | probably_damaging(0.938) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | 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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