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Gene: RFLNA |
Gene summary for RFLNA |
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Gene information | Species | Human | Gene symbol | RFLNA | Gene ID | 144347 |
Gene name | refilin A | |
Gene Alias | CFM2 | |
Cytomap | 12q24.31 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q6ZTI6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
144347 | RFLNA | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.26e-07 | 3.67e-01 | -0.1808 |
144347 | RFLNA | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.76e-03 | 2.88e-01 | -0.0811 |
144347 | RFLNA | HTA11_78_2000001011 | Human | Colorectum | AD | 1.02e-03 | 2.87e-01 | -0.1088 |
144347 | RFLNA | HTA11_347_2000001011 | Human | Colorectum | AD | 4.08e-19 | 5.05e-01 | -0.1954 |
144347 | RFLNA | HTA11_411_2000001011 | Human | Colorectum | SER | 3.34e-10 | 1.05e+00 | -0.2602 |
144347 | RFLNA | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.18e-02 | 7.58e-01 | -0.2196 |
144347 | RFLNA | HTA11_83_2000001011 | Human | Colorectum | SER | 8.08e-05 | 3.18e-01 | -0.1526 |
144347 | RFLNA | HTA11_696_2000001011 | Human | Colorectum | AD | 1.46e-08 | 2.27e-01 | -0.1464 |
144347 | RFLNA | HTA11_866_2000001011 | Human | Colorectum | AD | 2.59e-07 | 2.21e-01 | -0.1001 |
144347 | RFLNA | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.42e-03 | 2.80e-01 | -0.059 |
144347 | RFLNA | Pat02-B | Human | Stomach | GC | 2.76e-15 | 2.87e-01 | 0.0368 |
144347 | RFLNA | Pat03-B | Human | Stomach | GC | 3.11e-06 | 1.63e-01 | 0.3693 |
144347 | RFLNA | Pat04-B | Human | Stomach | GC | 4.50e-11 | 2.85e-01 | -0.1483 |
144347 | RFLNA | Pat05-B | Human | Stomach | GC | 1.71e-06 | 2.34e-01 | -0.0353 |
144347 | RFLNA | Pat06-B | Human | Stomach | GC | 1.30e-23 | 4.26e-01 | -0.1961 |
144347 | RFLNA | Pat09-B | Human | Stomach | GC | 2.69e-06 | 2.27e-01 | -0.0359 |
144347 | RFLNA | Pat10-B | Human | Stomach | GC | 2.54e-05 | 3.40e-01 | 0.084 |
144347 | RFLNA | Pat11-B | Human | Stomach | GC | 9.76e-13 | 3.39e-01 | -0.182 |
144347 | RFLNA | Pat12-B | Human | Stomach | GC | 8.43e-08 | 2.28e-01 | 0.0325 |
144347 | RFLNA | Pat15-B | Human | Stomach | GC | 2.25e-21 | 4.56e-01 | -0.0778 |
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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 |
Breast | Precancer | ![]() |
Breast | IDC | ![]() |
Breast | DCIS | ![]() |
Cervix | CC | ![]() |
Cervix | HSIL_HPV | ![]() |
∗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:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:0061572 | Colorectum | AD | actin filament bundle organization | 60/3918 | 161/18723 | 1.33e-06 | 4.23e-05 | 60 |
GO:0001503 | Colorectum | AD | ossification | 106/3918 | 408/18723 | 7.68e-03 | 4.64e-02 | 106 |
GO:00070151 | Colorectum | SER | actin filament organization | 134/2897 | 442/18723 | 1.39e-15 | 5.70e-13 | 134 |
GO:00615721 | Colorectum | SER | actin filament bundle organization | 48/2897 | 161/18723 | 2.97e-06 | 1.19e-04 | 48 |
GO:00015031 | Colorectum | SER | ossification | 82/2897 | 408/18723 | 6.76e-03 | 4.78e-02 | 82 |
GO:00070156 | Stomach | GC | actin filament organization | 67/1159 | 442/18723 | 7.96e-12 | 2.20e-09 | 67 |
GO:00615726 | Stomach | GC | actin filament bundle organization | 30/1159 | 161/18723 | 5.07e-08 | 3.40e-06 | 30 |
GO:000701511 | Stomach | CAG with IM | actin filament organization | 62/1050 | 442/18723 | 2.23e-11 | 4.96e-09 | 62 |
GO:006157211 | Stomach | CAG with IM | actin filament bundle organization | 28/1050 | 161/18723 | 8.23e-08 | 5.77e-06 | 28 |
GO:000701521 | Stomach | CSG | actin filament organization | 62/1034 | 442/18723 | 1.18e-11 | 2.70e-09 | 62 |
GO:006157221 | Stomach | CSG | actin filament bundle organization | 28/1034 | 161/18723 | 5.97e-08 | 4.39e-06 | 28 |
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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 |
RFLNA | SNV | Missense_Mutation | c.161N>T | p.Ser54Ile | p.S54I | Q6ZTI6 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-EK-A2RC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
RFLNA | SNV | Missense_Mutation | c.11G>A | p.Arg4Gln | p.R4Q | Q6ZTI6 | protein_coding | tolerated(0.07) | possibly_damaging(0.811) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RFLNA | SNV | Missense_Mutation | rs763653764 | c.197N>A | p.Arg66His | p.R66H | Q6ZTI6 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
RFLNA | SNV | Missense_Mutation | rs763653764 | c.197N>A | p.Arg66His | p.R66H | Q6ZTI6 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RFLNA | SNV | Missense_Mutation | novel | c.388C>A | p.Leu130Met | p.L130M | Q6ZTI6 | protein_coding | tolerated(0.09) | benign(0.01) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
RFLNA | SNV | Missense_Mutation | novel | c.32G>A | p.Gly11Glu | p.G11E | Q6ZTI6 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RFLNA | SNV | Missense_Mutation | rs777966549 | c.332G>A | p.Arg111His | p.R111H | Q6ZTI6 | protein_coding | deleterious(0.02) | benign(0.023) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RFLNA | SNV | Missense_Mutation | rs763653764 | c.197G>A | p.Arg66His | p.R66H | Q6ZTI6 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
RFLNA | deletion | Frame_Shift_Del | novel | c.377delN | p.Ser128AlafsTer64 | p.S128Afs*64 | Q6ZTI6 | protein_coding | TCGA-AJ-A3OL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD | ||
RFLNA | SNV | Missense_Mutation | c.85N>A | p.Glu29Lys | p.E29K | Q6ZTI6 | protein_coding | tolerated(0.07) | possibly_damaging(0.495) | TCGA-55-8092-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
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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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