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Gene: CFHR1 |
Gene summary for CFHR1 |
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Gene information | Species | Human | Gene symbol | CFHR1 | Gene ID | 3078 |
Gene name | complement factor H related 1 | |
Gene Alias | CFHL | |
Cytomap | 1q31.3 | |
Gene Type | protein-coding | GO ID | GO:0001906 | UniProtAcc | Q03591 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
3078 | CFHR1 | S41 | Human | Liver | Cirrhotic | 4.09e-13 | 2.31e-01 | -0.0343 |
3078 | CFHR1 | HCC1_Meng | Human | Liver | HCC | 7.77e-117 | 4.31e-01 | 0.0246 |
3078 | CFHR1 | cirrhotic1 | Human | Liver | Cirrhotic | 2.35e-06 | -2.19e-01 | 0.0202 |
3078 | CFHR1 | cirrhotic2 | Human | Liver | Cirrhotic | 1.08e-03 | -2.16e-01 | 0.0201 |
3078 | CFHR1 | cirrhotic3 | Human | Liver | Cirrhotic | 1.27e-07 | -2.08e-01 | 0.0215 |
3078 | CFHR1 | HCC1 | Human | Liver | HCC | 1.42e-33 | 4.74e+00 | 0.5336 |
3078 | CFHR1 | HCC2 | Human | Liver | HCC | 7.77e-05 | 2.03e+00 | 0.5341 |
3078 | CFHR1 | Pt13.a | Human | Liver | HCC | 3.33e-84 | 7.22e-01 | 0.021 |
3078 | CFHR1 | Pt13.b | Human | Liver | HCC | 5.88e-95 | 4.95e-01 | 0.0251 |
3078 | CFHR1 | Pt13.c | Human | Liver | HCC | 1.04e-07 | 2.95e-01 | 0.0076 |
3078 | CFHR1 | Pt14.a | Human | Liver | HCC | 1.47e-08 | 1.13e-01 | 0.0169 |
3078 | CFHR1 | Pt14.b | Human | Liver | HCC | 6.16e-32 | 6.23e-01 | 0.018 |
3078 | CFHR1 | Pt14.d | Human | Liver | HCC | 1.06e-33 | 2.87e-01 | 0.0143 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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:004440312 | Liver | Cirrhotic | biological process involved in symbiotic interaction | 131/4634 | 290/18723 | 2.00e-14 | 1.84e-12 | 131 |
GO:005109812 | Liver | Cirrhotic | regulation of binding | 148/4634 | 363/18723 | 9.14e-12 | 5.97e-10 | 148 |
GO:005170211 | Liver | Cirrhotic | biological process involved in interaction with symbiont | 48/4634 | 94/18723 | 3.41e-08 | 1.14e-06 | 48 |
GO:004339312 | Liver | Cirrhotic | regulation of protein binding | 83/4634 | 196/18723 | 4.44e-08 | 1.42e-06 | 83 |
GO:00511006 | Liver | Cirrhotic | negative regulation of binding | 63/4634 | 162/18723 | 4.54e-05 | 5.31e-04 | 63 |
GO:00320914 | Liver | Cirrhotic | negative regulation of protein binding | 40/4634 | 94/18723 | 1.14e-04 | 1.14e-03 | 40 |
GO:0019835 | Liver | Cirrhotic | cytolysis | 17/4634 | 32/18723 | 5.24e-04 | 4.14e-03 | 17 |
GO:005109822 | Liver | HCC | regulation of binding | 225/7958 | 363/18723 | 3.78e-14 | 2.37e-12 | 225 |
GO:004440322 | Liver | HCC | biological process involved in symbiotic interaction | 183/7958 | 290/18723 | 9.13e-13 | 4.59e-11 | 183 |
GO:004339322 | Liver | HCC | regulation of protein binding | 129/7958 | 196/18723 | 3.27e-11 | 1.26e-09 | 129 |
GO:00517022 | Liver | HCC | biological process involved in interaction with symbiont | 60/7958 | 94/18723 | 2.41e-05 | 2.54e-04 | 60 |
GO:005110012 | Liver | HCC | negative regulation of binding | 94/7958 | 162/18723 | 4.69e-05 | 4.50e-04 | 94 |
GO:003209112 | Liver | HCC | negative regulation of protein binding | 59/7958 | 94/18723 | 5.79e-05 | 5.34e-04 | 59 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa046102 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
hsa046103 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
hsa046104 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
hsa046105 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
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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 |
CFHR1 | SNV | Missense_Mutation | c.905G>A | p.Arg302Gln | p.R302Q | Q03591 | protein_coding | tolerated(0.3) | benign(0.119) | TCGA-A2-A0CR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR | |
CFHR1 | SNV | Missense_Mutation | c.628N>T | p.Pro210Ser | p.P210S | Q03591 | protein_coding | tolerated(0.09) | probably_damaging(0.999) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
CFHR1 | SNV | Missense_Mutation | c.860A>G | p.Lys287Arg | p.K287R | Q03591 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AR-A1AH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | PD | ||
CFHR1 | SNV | Missense_Mutation | c.990A>C | p.Arg330Ser | p.R330S | Q03591 | protein_coding | deleterious_low_confidence(0.02) | benign(0.206) | TCGA-C5-A7UE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
CFHR1 | SNV | Missense_Mutation | rs368662175 | c.809N>A | p.Arg270Gln | p.R270Q | Q03591 | protein_coding | tolerated(0.08) | benign(0.074) | TCGA-VS-A94W-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CFHR1 | SNV | Missense_Mutation | c.457N>T | p.Val153Leu | p.V153L | Q03591 | protein_coding | tolerated(0.06) | possibly_damaging(0.819) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CFHR1 | SNV | Missense_Mutation | c.510N>C | p.Glu170Asp | p.E170D | Q03591 | protein_coding | tolerated(0.29) | benign(0.11) | TCGA-AD-6548-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CFHR1 | SNV | Missense_Mutation | novel | c.269C>A | p.Pro90His | p.P90H | Q03591 | protein_coding | tolerated(0.05) | probably_damaging(0.999) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CFHR1 | SNV | Missense_Mutation | novel | c.611C>A | p.Ser204Tyr | p.S204Y | Q03591 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CFHR1 | SNV | Missense_Mutation | rs750664416 | c.790N>T | p.His264Tyr | p.H264Y | Q03591 | protein_coding | tolerated(0.08) | benign(0.389) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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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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