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Gene: RFC2 |
Gene summary for RFC2 |
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Gene information | Species | Human | Gene symbol | RFC2 | Gene ID | 5982 |
Gene name | replication factor C subunit 2 | |
Gene Alias | RFC40 | |
Cytomap | 7q11.23 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | P35250 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
5982 | RFC2 | C43 | Human | Oral cavity | OSCC | 6.89e-52 | 1.00e+00 | 0.1704 |
5982 | RFC2 | C46 | Human | Oral cavity | OSCC | 1.36e-41 | 9.91e-01 | 0.1673 |
5982 | RFC2 | C51 | Human | Oral cavity | OSCC | 1.39e-07 | 6.69e-01 | 0.2674 |
5982 | RFC2 | C57 | Human | Oral cavity | OSCC | 1.05e-11 | 6.58e-01 | 0.1679 |
5982 | RFC2 | C07 | Human | Oral cavity | OSCC | 1.82e-02 | 8.96e-01 | 0.2491 |
5982 | RFC2 | C08 | Human | Oral cavity | OSCC | 4.90e-26 | 9.09e-01 | 0.1919 |
5982 | RFC2 | C09 | Human | Oral cavity | OSCC | 2.22e-02 | 8.67e-02 | 0.1431 |
5982 | RFC2 | LN22 | Human | Oral cavity | OSCC | 2.71e-07 | 1.12e+00 | 0.1733 |
5982 | RFC2 | LN46 | Human | Oral cavity | OSCC | 9.85e-24 | 9.48e-01 | 0.1666 |
5982 | RFC2 | LP15 | Human | Oral cavity | LP | 1.67e-03 | 9.30e-01 | 0.2174 |
5982 | RFC2 | SYSMH2 | Human | Oral cavity | OSCC | 1.99e-10 | 5.75e-01 | 0.2326 |
5982 | RFC2 | SYSMH3 | Human | Oral cavity | OSCC | 2.15e-10 | 5.45e-01 | 0.2442 |
5982 | RFC2 | SYSMH5 | Human | Oral cavity | OSCC | 8.91e-03 | 2.07e-01 | 0.0647 |
5982 | RFC2 | P4_S8_cSCC | Human | Skin | cSCC | 5.22e-03 | 7.73e-02 | -0.3095 |
5982 | RFC2 | P5_S10_cSCC | Human | Skin | cSCC | 2.19e-03 | 1.58e-01 | -0.299 |
5982 | RFC2 | P1_cSCC | Human | Skin | cSCC | 4.53e-17 | 8.76e-01 | 0.0292 |
5982 | RFC2 | P2_cSCC | Human | Skin | cSCC | 1.17e-13 | 4.57e-01 | -0.024 |
5982 | RFC2 | P4_cSCC | Human | Skin | cSCC | 8.36e-25 | 7.53e-01 | -0.00290000000000005 |
5982 | RFC2 | P10_cSCC | Human | Skin | cSCC | 4.08e-31 | 8.48e-01 | 0.1017 |
5982 | RFC2 | male-WTA | Human | Thyroid | PTC | 1.17e-05 | 3.41e-02 | 0.1037 |
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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:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
GO:200057319 | Esophagus | ESCC | positive regulation of DNA biosynthetic process | 56/8552 | 66/18723 | 4.51e-11 | 1.45e-09 | 56 |
GO:2000278110 | Esophagus | ESCC | regulation of DNA biosynthetic process | 81/8552 | 106/18723 | 9.81e-11 | 2.96e-09 | 81 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:003250813 | Esophagus | ESCC | DNA duplex unwinding | 58/8552 | 84/18723 | 1.23e-05 | 1.14e-04 | 58 |
GO:0090329 | Esophagus | ESCC | regulation of DNA-dependent DNA replication | 30/8552 | 46/18723 | 5.91e-03 | 2.18e-02 | 30 |
GO:005105221 | Liver | HCC | regulation of DNA metabolic process | 198/7958 | 359/18723 | 7.62e-07 | 1.17e-05 | 198 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:005105411 | Liver | HCC | positive regulation of DNA metabolic process | 113/7958 | 201/18723 | 5.76e-05 | 5.33e-04 | 113 |
GO:200027812 | Liver | HCC | regulation of DNA biosynthetic process | 64/7958 | 106/18723 | 1.53e-04 | 1.23e-03 | 64 |
GO:00718975 | Liver | HCC | DNA biosynthetic process | 99/7958 | 180/18723 | 4.66e-04 | 3.08e-03 | 99 |
GO:003239211 | Liver | HCC | DNA geometric change | 54/7958 | 90/18723 | 6.04e-04 | 3.79e-03 | 54 |
GO:200057312 | Liver | HCC | positive regulation of DNA biosynthetic process | 41/7958 | 66/18723 | 1.02e-03 | 5.86e-03 | 41 |
GO:00325081 | Liver | HCC | DNA duplex unwinding | 49/7958 | 84/18723 | 2.46e-03 | 1.19e-02 | 49 |
GO:00062751 | Liver | HCC | regulation of DNA replication | 60/7958 | 107/18723 | 3.15e-03 | 1.46e-02 | 60 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0342022 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa034104 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa030304 | Esophagus | ESCC | DNA replication | 32/4205 | 36/8465 | 7.71e-07 | 5.06e-06 | 2.59e-06 | 32 |
hsa034304 | Esophagus | ESCC | Mismatch repair | 21/4205 | 23/8465 | 2.85e-05 | 1.35e-04 | 6.90e-05 | 21 |
hsa0342032 | Esophagus | ESCC | Nucleotide excision repair | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa0341011 | Esophagus | ESCC | Base excision repair | 38/4205 | 44/8465 | 3.59e-07 | 2.62e-06 | 1.34e-06 | 38 |
hsa0303011 | Esophagus | ESCC | DNA replication | 32/4205 | 36/8465 | 7.71e-07 | 5.06e-06 | 2.59e-06 | 32 |
hsa0343011 | Esophagus | ESCC | Mismatch repair | 21/4205 | 23/8465 | 2.85e-05 | 1.35e-04 | 6.90e-05 | 21 |
hsa034202 | Liver | HCC | Nucleotide excision repair | 41/4020 | 63/8465 | 3.59e-03 | 1.12e-02 | 6.22e-03 | 41 |
hsa034203 | Liver | HCC | Nucleotide excision repair | 41/4020 | 63/8465 | 3.59e-03 | 1.12e-02 | 6.22e-03 | 41 |
hsa034204 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
hsa03030 | Oral cavity | OSCC | DNA replication | 31/3704 | 36/8465 | 1.70e-07 | 1.19e-06 | 6.03e-07 | 31 |
hsa03410 | Oral cavity | OSCC | Base excision repair | 32/3704 | 44/8465 | 9.11e-05 | 3.25e-04 | 1.65e-04 | 32 |
hsa03430 | Oral cavity | OSCC | Mismatch repair | 19/3704 | 23/8465 | 1.55e-04 | 5.34e-04 | 2.72e-04 | 19 |
hsa0342011 | Oral cavity | OSCC | Nucleotide excision repair | 49/3704 | 63/8465 | 3.48e-08 | 2.91e-07 | 1.48e-07 | 49 |
hsa030301 | Oral cavity | OSCC | DNA replication | 31/3704 | 36/8465 | 1.70e-07 | 1.19e-06 | 6.03e-07 | 31 |
hsa034101 | Oral cavity | OSCC | Base excision repair | 32/3704 | 44/8465 | 9.11e-05 | 3.25e-04 | 1.65e-04 | 32 |
hsa034301 | Oral cavity | OSCC | Mismatch repair | 19/3704 | 23/8465 | 1.55e-04 | 5.34e-04 | 2.72e-04 | 19 |
hsa0342021 | Oral cavity | LP | Nucleotide excision repair | 37/2418 | 63/8465 | 5.14e-07 | 6.33e-06 | 4.08e-06 | 37 |
hsa030302 | Oral cavity | LP | DNA replication | 23/2418 | 36/8465 | 1.08e-05 | 7.79e-05 | 5.02e-05 | 23 |
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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 |
RFC2 | SNV | Missense_Mutation | novel | c.29N>T | p.Ala10Val | p.A10V | P35250 | protein_coding | tolerated_low_confidence(0.14) | benign(0) | TCGA-AR-A0TP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RFC2 | insertion | Nonsense_Mutation | novel | c.721_722insGGGTTTAGGGCATAGTTCCACCCAATGTGAAACCGGAGTGCAAGG | p.Ser241delinsTrpValTerGlyIleValProProAsnValLysProGluCysLysAla | p.S241delinsWV*GIVPPNVKPECKA | P35250 | protein_coding | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
RFC2 | insertion | Nonsense_Mutation | novel | c.1056_1057insTAGACCCACAAGCTCATCTCGGTTCTTCTAGAAGCCTGAAGGC | p.Ala353Ter | p.A353* | P35250 | protein_coding | TCGA-AO-A0JD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
RFC2 | SNV | Missense_Mutation | novel | c.350G>T | p.Arg117Met | p.R117M | P35250 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RFC2 | SNV | Missense_Mutation | c.1051C>G | p.Pro351Ala | p.P351A | P35250 | protein_coding | deleterious_low_confidence(0.03) | benign(0.012) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD | |
RFC2 | SNV | Missense_Mutation | c.735N>A | p.Phe245Leu | p.F245L | P35250 | protein_coding | tolerated(0.33) | benign(0) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD | |
RFC2 | SNV | Missense_Mutation | c.38T>C | p.Val13Ala | p.V13A | P35250 | protein_coding | tolerated_low_confidence(0.87) | benign(0) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
RFC2 | SNV | Missense_Mutation | c.583N>A | p.Asp195Asn | p.D195N | P35250 | protein_coding | tolerated(0.08) | benign(0.079) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
RFC2 | SNV | Missense_Mutation | novel | c.259C>A | p.Leu87Met | p.L87M | P35250 | protein_coding | tolerated(0.08) | possibly_damaging(0.612) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RFC2 | SNV | Missense_Mutation | novel | c.781C>A | p.Leu261Met | p.L261M | P35250 | protein_coding | tolerated(0.15) | benign(0.131) | TCGA-A5-A1OF-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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