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Gene: L2HGDH |
Gene summary for L2HGDH |
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Gene information | Species | Human | Gene symbol | L2HGDH | Gene ID | 79944 |
Gene name | L-2-hydroxyglutarate dehydrogenase | |
Gene Alias | C14orf160 | |
Cytomap | 14q21.3 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | Q9H9P8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79944 | L2HGDH | P1T-E | Human | Esophagus | ESCC | 9.25e-04 | 1.97e-01 | 0.0875 |
79944 | L2HGDH | P2T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.13e-01 | 0.1177 |
79944 | L2HGDH | P4T-E | Human | Esophagus | ESCC | 8.24e-11 | 2.66e-01 | 0.1323 |
79944 | L2HGDH | P8T-E | Human | Esophagus | ESCC | 3.50e-02 | 7.41e-02 | 0.0889 |
79944 | L2HGDH | P10T-E | Human | Esophagus | ESCC | 4.12e-11 | 1.92e-01 | 0.116 |
79944 | L2HGDH | P11T-E | Human | Esophagus | ESCC | 5.90e-05 | 1.52e-01 | 0.1426 |
79944 | L2HGDH | P12T-E | Human | Esophagus | ESCC | 2.05e-07 | 1.37e-01 | 0.1122 |
79944 | L2HGDH | P15T-E | Human | Esophagus | ESCC | 4.41e-08 | 1.72e-01 | 0.1149 |
79944 | L2HGDH | P16T-E | Human | Esophagus | ESCC | 5.95e-08 | 1.32e-01 | 0.1153 |
79944 | L2HGDH | P17T-E | Human | Esophagus | ESCC | 3.94e-02 | 2.13e-01 | 0.1278 |
79944 | L2HGDH | P20T-E | Human | Esophagus | ESCC | 5.20e-04 | 1.40e-01 | 0.1124 |
79944 | L2HGDH | P21T-E | Human | Esophagus | ESCC | 7.30e-04 | 8.33e-02 | 0.1617 |
79944 | L2HGDH | P22T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.11e-01 | 0.1236 |
79944 | L2HGDH | P23T-E | Human | Esophagus | ESCC | 4.23e-05 | 1.31e-01 | 0.108 |
79944 | L2HGDH | P24T-E | Human | Esophagus | ESCC | 1.96e-05 | 1.47e-01 | 0.1287 |
79944 | L2HGDH | P26T-E | Human | Esophagus | ESCC | 9.35e-10 | 1.83e-01 | 0.1276 |
79944 | L2HGDH | P27T-E | Human | Esophagus | ESCC | 3.71e-15 | 2.98e-01 | 0.1055 |
79944 | L2HGDH | P28T-E | Human | Esophagus | ESCC | 1.76e-12 | 2.31e-01 | 0.1149 |
79944 | L2HGDH | P30T-E | Human | Esophagus | ESCC | 2.84e-08 | 3.18e-01 | 0.137 |
79944 | L2HGDH | P31T-E | Human | Esophagus | ESCC | 2.06e-08 | 1.57e-01 | 0.1251 |
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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:00436485 | Esophagus | ESCC | dicarboxylic acid metabolic process | 58/8552 | 96/18723 | 2.55e-03 | 1.09e-02 | 58 |
GO:00436482 | Liver | HCC | dicarboxylic acid metabolic process | 68/7958 | 96/18723 | 1.73e-08 | 4.14e-07 | 68 |
GO:00061031 | Liver | HCC | 2-oxoglutarate metabolic process | 14/7958 | 18/18723 | 2.57e-03 | 1.23e-02 | 14 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa006504 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
hsa006505 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
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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 |
L2HGDH | SNV | Missense_Mutation | novel | c.737A>C | p.Lys246Thr | p.K246T | Q9H9P8 | protein_coding | tolerated(0.07) | possibly_damaging(0.544) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
L2HGDH | SNV | Missense_Mutation | rs765823076 | c.1292G>A | p.Arg431His | p.R431H | Q9H9P8 | protein_coding | deleterious(0.05) | benign(0.077) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
L2HGDH | SNV | Missense_Mutation | novel | c.815N>A | p.Cys272Tyr | p.C272Y | Q9H9P8 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AP-A1DH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
L2HGDH | SNV | Missense_Mutation | rs765823076 | c.1292N>A | p.Arg431His | p.R431H | Q9H9P8 | protein_coding | deleterious(0.05) | benign(0.077) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
L2HGDH | SNV | Missense_Mutation | novel | c.529N>T | p.Pro177Ser | p.P177S | Q9H9P8 | protein_coding | deleterious(0.02) | probably_damaging(0.951) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
L2HGDH | SNV | Missense_Mutation | rs765823076 | c.1292N>A | p.Arg431His | p.R431H | Q9H9P8 | protein_coding | deleterious(0.05) | benign(0.077) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
L2HGDH | SNV | Missense_Mutation | rs765823076 | c.1292G>A | p.Arg431His | p.R431H | Q9H9P8 | protein_coding | deleterious(0.05) | benign(0.077) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
L2HGDH | SNV | Missense_Mutation | c.1349C>T | p.Ser450Phe | p.S450F | Q9H9P8 | protein_coding | deleterious(0) | possibly_damaging(0.861) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
L2HGDH | SNV | Missense_Mutation | rs767037296 | c.752G>A | p.Arg251Gln | p.R251Q | Q9H9P8 | protein_coding | tolerated(0.38) | benign(0.009) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
L2HGDH | SNV | Missense_Mutation | novel | c.1169N>T | p.Pro390Leu | p.P390L | Q9H9P8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | 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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