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Gene: SDHAF3 |
Gene summary for SDHAF3 |
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Gene information | Species | Human | Gene symbol | SDHAF3 | Gene ID | 57001 |
Gene name | succinate dehydrogenase complex assembly factor 3 | |
Gene Alias | ACN9 | |
Cytomap | 7q21.3 | |
Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | Q9NRP4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
57001 | SDHAF3 | P24T-E | Human | Esophagus | ESCC | 8.42e-23 | 5.03e-01 | 0.1287 |
57001 | SDHAF3 | P26T-E | Human | Esophagus | ESCC | 5.35e-51 | 9.77e-01 | 0.1276 |
57001 | SDHAF3 | P27T-E | Human | Esophagus | ESCC | 8.89e-44 | 9.12e-01 | 0.1055 |
57001 | SDHAF3 | P28T-E | Human | Esophagus | ESCC | 2.70e-39 | 6.88e-01 | 0.1149 |
57001 | SDHAF3 | P30T-E | Human | Esophagus | ESCC | 5.42e-37 | 1.09e+00 | 0.137 |
57001 | SDHAF3 | P31T-E | Human | Esophagus | ESCC | 2.43e-24 | 4.50e-01 | 0.1251 |
57001 | SDHAF3 | P32T-E | Human | Esophagus | ESCC | 5.56e-46 | 8.55e-01 | 0.1666 |
57001 | SDHAF3 | P36T-E | Human | Esophagus | ESCC | 1.08e-24 | 1.06e+00 | 0.1187 |
57001 | SDHAF3 | P37T-E | Human | Esophagus | ESCC | 9.85e-37 | 6.72e-01 | 0.1371 |
57001 | SDHAF3 | P38T-E | Human | Esophagus | ESCC | 9.56e-09 | 3.09e-01 | 0.127 |
57001 | SDHAF3 | P39T-E | Human | Esophagus | ESCC | 1.25e-25 | 4.34e-01 | 0.0894 |
57001 | SDHAF3 | P40T-E | Human | Esophagus | ESCC | 5.84e-10 | 3.73e-01 | 0.109 |
57001 | SDHAF3 | P42T-E | Human | Esophagus | ESCC | 9.83e-28 | 7.42e-01 | 0.1175 |
57001 | SDHAF3 | P44T-E | Human | Esophagus | ESCC | 1.54e-15 | 3.82e-01 | 0.1096 |
57001 | SDHAF3 | P47T-E | Human | Esophagus | ESCC | 2.87e-16 | 3.00e-01 | 0.1067 |
57001 | SDHAF3 | P48T-E | Human | Esophagus | ESCC | 2.26e-13 | 2.94e-01 | 0.0959 |
57001 | SDHAF3 | P49T-E | Human | Esophagus | ESCC | 1.47e-08 | 5.73e-01 | 0.1768 |
57001 | SDHAF3 | P52T-E | Human | Esophagus | ESCC | 8.19e-31 | 7.81e-01 | 0.1555 |
57001 | SDHAF3 | P54T-E | Human | Esophagus | ESCC | 2.36e-30 | 6.94e-01 | 0.0975 |
57001 | SDHAF3 | P57T-E | Human | Esophagus | ESCC | 1.45e-24 | 4.30e-01 | 0.0926 |
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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:0033108 | Colorectum | AD | mitochondrial respiratory chain complex assembly | 46/3918 | 93/18723 | 8.95e-10 | 6.91e-08 | 46 |
GO:0019318 | Colorectum | AD | hexose metabolic process | 77/3918 | 237/18723 | 1.96e-05 | 4.01e-04 | 77 |
GO:0044262 | Colorectum | AD | cellular carbohydrate metabolic process | 87/3918 | 283/18723 | 6.00e-05 | 1.01e-03 | 87 |
GO:0005996 | Colorectum | AD | monosaccharide metabolic process | 80/3918 | 257/18723 | 7.31e-05 | 1.17e-03 | 80 |
GO:0006006 | Colorectum | AD | glucose metabolic process | 62/3918 | 196/18723 | 2.76e-04 | 3.39e-03 | 62 |
GO:0043648 | Colorectum | AD | dicarboxylic acid metabolic process | 34/3918 | 96/18723 | 7.22e-04 | 7.28e-03 | 34 |
GO:0006109 | Colorectum | AD | regulation of carbohydrate metabolic process | 55/3918 | 178/18723 | 1.10e-03 | 1.01e-02 | 55 |
GO:0062012 | Colorectum | AD | regulation of small molecule metabolic process | 93/3918 | 334/18723 | 1.46e-03 | 1.24e-02 | 93 |
GO:00193183 | Colorectum | FAP | hexose metabolic process | 58/2622 | 237/18723 | 1.09e-05 | 3.08e-04 | 58 |
GO:00442621 | Colorectum | FAP | cellular carbohydrate metabolic process | 66/2622 | 283/18723 | 1.53e-05 | 4.01e-04 | 66 |
GO:00061092 | Colorectum | FAP | regulation of carbohydrate metabolic process | 46/2622 | 178/18723 | 1.99e-05 | 4.90e-04 | 46 |
GO:00620122 | Colorectum | FAP | regulation of small molecule metabolic process | 74/2622 | 334/18723 | 3.15e-05 | 7.13e-04 | 74 |
GO:00060063 | Colorectum | FAP | glucose metabolic process | 48/2622 | 196/18723 | 5.90e-05 | 1.16e-03 | 48 |
GO:00059963 | Colorectum | FAP | monosaccharide metabolic process | 59/2622 | 257/18723 | 6.79e-05 | 1.28e-03 | 59 |
GO:0010675 | Colorectum | FAP | regulation of cellular carbohydrate metabolic process | 35/2622 | 146/18723 | 8.41e-04 | 8.72e-03 | 35 |
GO:00436481 | Colorectum | FAP | dicarboxylic acid metabolic process | 24/2622 | 96/18723 | 2.88e-03 | 2.20e-02 | 24 |
GO:0010906 | Colorectum | FAP | regulation of glucose metabolic process | 27/2622 | 119/18723 | 6.87e-03 | 4.22e-02 | 27 |
GO:00442622 | Colorectum | CRC | cellular carbohydrate metabolic process | 49/2078 | 283/18723 | 1.06e-03 | 1.24e-02 | 49 |
GO:0033108110 | Esophagus | ESCC | mitochondrial respiratory chain complex assembly | 83/8552 | 93/18723 | 9.56e-19 | 1.05e-16 | 83 |
GO:00059969 | Esophagus | ESCC | monosaccharide metabolic process | 159/8552 | 257/18723 | 1.11e-07 | 1.81e-06 | 159 |
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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 |
SDHAF3 | SNV | Missense_Mutation | rs781174674 | c.70C>T | p.Pro24Ser | p.P24S | Q9NRP4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
SDHAF3 | SNV | Missense_Mutation | rs755073792 | c.208N>A | p.Glu70Lys | p.E70K | Q9NRP4 | protein_coding | tolerated(0.59) | benign(0.137) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
SDHAF3 | SNV | Missense_Mutation | c.134N>C | p.Val45Ala | p.V45A | Q9NRP4 | protein_coding | tolerated(0.89) | benign(0.005) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SDHAF3 | SNV | Missense_Mutation | novel | c.190T>G | p.Leu64Val | p.L64V | Q9NRP4 | protein_coding | deleterious(0.03) | possibly_damaging(0.848) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SDHAF3 | insertion | Frame_Shift_Ins | novel | c.372_373insCATGC | p.Phe125HisfsTer10 | p.F125Hfs*10 | Q9NRP4 | protein_coding | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
SDHAF3 | SNV | Missense_Mutation | rs755073792 | c.208G>A | p.Glu70Lys | p.E70K | Q9NRP4 | protein_coding | tolerated(0.59) | benign(0.137) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SDHAF3 | SNV | Missense_Mutation | c.188N>T | p.Ala63Val | p.A63V | Q9NRP4 | protein_coding | tolerated(0.89) | benign(0) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SDHAF3 | SNV | Missense_Mutation | rs755073792 | c.208N>A | p.Glu70Lys | p.E70K | Q9NRP4 | protein_coding | tolerated(0.59) | benign(0.137) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
SDHAF3 | SNV | Missense_Mutation | rs755073792 | c.208N>A | p.Glu70Lys | p.E70K | Q9NRP4 | protein_coding | tolerated(0.59) | benign(0.137) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SDHAF3 | SNV | Missense_Mutation | rs754390024 | c.41N>C | p.Lys14Thr | p.K14T | Q9NRP4 | protein_coding | deleterious(0) | benign(0.38) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | 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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