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Gene: ENSG00000135766 |
Summary for EGLN1 |
 Gene summary |
| Gene information | Ensembl ID | ENSG00000135766 | Gene symbol | EGLN1 |
| Gene name | egl-9 family hypoxia inducible factor 1 | |
| HGNC | 1232 | |
| Entrez ID | 54583 | |
| Gene type | protein_coding | |
| Synonyms | EGLN1|SM-20|PHD2|ZMYND6|HIFPH2 | |
| UniProtAcc | Q9GZT9 |
| Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| ENSG00000135766 | EGLN1 | DB00126 | Ascorbic acid | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB01592 | Iron | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB04847 | Roxadustat | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB07112 | N-[(4-HYDROXY-8-IODOISOQUINOLIN-3-YL)CARBONYL]GLYCINE | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB08687 | FG-2216 | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB14488 | Ferrous gluconate | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB14489 | Ferrous succinate | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB14490 | Ferrous ascorbate | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB14491 | Ferrous fumarate | SmallMoleculeDrug |
| ENSG00000135766 | EGLN1 | DB14501 | Ferrous glycine sulfate | SmallMoleculeDrug |
| Cancer therapeutic drugs associated with this gene(NCI). |
| Gene ID | Gene Name | Drug ID | Drug Name | Drug Type | Cancer |
Top |
Structure and expression level for EGLN1 |
| AS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure. ∗For more information on exon skipping events please check the ExonskipDB database. ∗For more information on exon skipping events please check the CAeditome database. |
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| Landscape of gene expressions across multiple cancer types. |
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| Differentially expressed gene analysis between tumor male and tumor female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor male and normal male samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor female and normal female samples. |
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| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| EGLN1 | 1.99e+03 | -1.00e+00 | 1.00e-01 | -9.98e+00 | 1.84e-23 | 4.70e-22 | COAD |
Top |
Sex-biased somatic mutation for EGLN1 |
| ∗For more information on exon skipping events please check the ExonskipDB database. |
| Gene ID | Cancer Type | Hugo Symbol | Male | Female | pval | or | ci.up | ci.low | adjPval |
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DNA methylation with beta values for EGLN1 |
| Landscape of DNA methylation across multiple cancer types. |
 |
| Differentially expressed CpG sites between male tumor and female tumor patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| ACC | cg16855929 | chr1:231425668 | CGI:chr1:231420935-231422701 | promoter | 6.42e-01 | 7.48e-01 | -2.48e+00 | 1.31e-02 | 2.93e-02 | -1.06e-01 |
| Differentially expressed CpG sites between male tumor and male normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| LUSC | cg20682143 | chr1:231425406 | CGI:chr1:231420935-231422701 | promoter | 5.89e-01 | 3.68e-01 | 3.34e+00 | 8.25e-04 | 2.29e-03 | 2.20e-01 |
| LUSC | cg16855929 | chr1:231425668 | CGI:chr1:231420935-231422701 | promoter | 8.30e-01 | 7.09e-01 | 3.41e+00 | 6.49e-04 | 1.96e-03 | 1.21e-01 |
| Differentially expressed CpG sites between female tumor and female normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
Top |
Exon skipping events with PSI in TCGA for EGLN1 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
| Landscape of exon skipping events across multiple cancer types. |
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| Differentially expressed exon skipping events between male tumor and female tumor patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between male tumor and male normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between female tumor and female normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
Top |
RNA A-to-I editing events in TCGA for EGLN1 |
| ∗Please access CAeditome for RNA editing annotation. |
| Differentially expressed RNA editing events between male tumor and female tumor patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between male tumor and male normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between female tumor and female normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Protein coding RNA editing(s). |
| Editing Position | Variant Type | Gene Symbol | Transcript ID | NTchange | AAchange |
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Sex-biased TF-Gene network for EGLN1 |
| TFs related to EGLN1. ∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
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| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| BLCA | ZNF235 | EGLN1 | 4.26e+00 | 9.84e-01 | 3.31e+00 | 5.63e-03 | Male-biased |
| BLCA | ZNF287 | EGLN1 | 4.26e+00 | 9.82e-01 | 3.41e+00 | 8.13e-03 | Male-biased |
| EGLN1 related gene. ∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
Top |
Sex-biased RBP-ES network for EGLN1 |
| RBPs related to ES in EGLN1. ∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
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| Cancer Type | RBP | Target ES | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| ACC | ELAVL2 | exon_skip_38079 | 9.27e+00 | 1.56e-02 | 9.63e+00 | 9.82e-01 | Female-biased |
| LUSC | SART3 | exon_skip_38085 | 8.93e+00 | 9.82e-01 | 8.59e+00 | 1.39e-02 | Male-biased |
| HNSC | SART3 | exon_skip_38085 | 8.97e+00 | 9.87e-01 | 8.61e+00 | 9.01e-03 | Male-biased |
| EGLN1 related ES. ∗Only the gene encode RBP might with this result. ∗For more information please check Sex-biased RBP-ES network in cancer. |
Top |
Sex-biased CeRNA regulation of gene |
| Sex-biased CeRNA regulation of gene. |
| Gene ID | ceRNA(lncRNA-miRNA-mRNA) | Group | Cancer Type |
Top |
Sex-biased eQTL regulation of gene |
| Sex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| eQTL | Description |
| Male-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs12041601 | chr1:230068193:G:A | - | 0.148157656836575 | 0.0169751629020694 | SARC | Female-baised eQTL |
| rs12747999 | chr1:228660958:C:A | - | 0.129705931512155 | 0.0201743612113802 | LUSC | Female-baised eQTL |
| rs75315310 | chr1:234981832:C:T | - | 0.0672881863730707 | 0.015288885751011 | LUAD | Female-baised eQTL |
| rs78183239 | chr1:234981224:T:C | - | 0.0672573635354697 | 0.0153164408305042 | LUAD | Female-baised eQTL |
| rs61836593 | chr1:239630356:A:C | - | 0.0679311323704222 | 0.0153800052419357 | LUAD | Female-baised eQTL |
| rs10495358 | chr1:234978847:A:G | - | 0.0620717868541899 | 0.024833106195646 | LUAD | Female-baised eQTL |
| rs1459223 | chr1:221408686:T:C | - | -0.0852825215120883 | 0.00619178626058552 | COAD | Female-baised eQTL |
| rs3101197 | chr1:221422771:A:G | - | -0.0804787101880105 | 0.0131682602491483 | COAD | Female-baised eQTL |
| rs4348762 | chr1:234556771:G:A | - | 0.0946372414384116 | 0.02521750127401 | COAD | Female-baised eQTL |
| Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs72745944 | chr1:223470185:G:A | - | 0.109516251479748 | 0.000359824027681856 | COAD | Male-baised eQTL |
| rs4546058 | chr1:223472560:T:A | - | 0.101296952701539 | 0.00133463579147724 | COAD | Male-baised eQTL |
| rs11581783 | chr1:223467512:C:T | - | 0.098818035595013 | 0.00200561114501129 | COAD | Male-baised eQTL |
| rs11586002 | chr1:240970404:T:C | - | 0.0606611550422851 | 0.0151079528138713 | COAD | Male-baised eQTL |
| rs17533651 | chr1:222783706:A:T | - | 0.0618297243119322 | 0.0170920177658114 | COAD | Male-baised eQTL |
| rs4287167 | chr1:223466909:C:T | - | -0.0656181045465665 | 0.0188784534586116 | COAD | Male-baised eQTL |
| rs11261282 | chr1:223467498:G:T | - | -0.0656181045465665 | 0.0188784534586116 | COAD | Male-baised eQTL |
| rs12741483 | chr1:223467864:C:T | - | -0.0656181045465665 | 0.0188784534586116 | COAD | Male-baised eQTL |
| rs3849295 | chr1:230540296:A:C | - | 0.0852172982518898 | 0.0197909830850249 | COAD | Male-baised eQTL |
| rs6426508 | chr1:228647119:T:A | - | -0.0600592780457808 | 0.0203813031467218 | COAD | Male-baised eQTL |
| rs4653993 | chr1:224070528:T:A | - | -0.0609477313865027 | 0.0204656249893399 | COAD | Male-baised eQTL |
| rs116800116 | chr1:224886575:G:A | - | 0.118388299633853 | 0.0206020360129175 | COAD | Male-baised eQTL |
| rs12044717 | chr1:224882351:G:A | - | 0.116855200096977 | 0.0212860089285542 | COAD | Male-baised eQTL |
| rs4653978 | chr1:228550745:G:A | - | 0.0590079458555476 | 0.0223608646319922 | COAD | Male-baised eQTL |
| rs12035781 | chr1:228555937:C:G | - | 0.0591114735930661 | 0.02238225827664 | COAD | Male-baised eQTL |
| rs12028536 | chr1:228556005:G:A | - | 0.0591114735930661 | 0.02238225827664 | COAD | Male-baised eQTL |
| rs10926378 | chr1:240925062:C:A | - | 0.0630285453575038 | 0.0232688483969552 | COAD | Male-baised eQTL |
| rs60733763 | chr1:228556369:C:A | - | 0.0588152566681469 | 0.02414028273784 | COAD | Male-baised eQTL |
| rs56709082 | chr1:228556372:C:A | - | 0.0588152566681469 | 0.02414028273784 | COAD | Male-baised eQTL |
| rs10802914 | chr1:240916693:G:A | - | 0.0626042408246017 | 0.0244848664659776 | COAD | Male-baised eQTL |
| rs942854 | chr1:228544530:T:C | - | 0.0583371189186772 | 0.0248879676025429 | COAD | Male-baised eQTL |
| rs7531670 | chr1:240203162:C:T | - | -0.068371234646552 | 0.0251330201807175 | COAD | Male-baised eQTL |
| rs10157103 | chr1:225801116:C:T | - | -0.0695154682396588 | 0.0273856373373692 | COAD | Male-baised eQTL |
| rs2790354 | chr1:237857280:T:C | - | 0.112142262662777 | 0.0274161224572701 | COAD | Male-baised eQTL |
| rs1011878 | chr1:228553355:A:G | - | 0.0579532644147015 | 0.0286653096223153 | COAD | Male-baised eQTL |
| rs1011879 | chr1:228553642:C:T | - | 0.0579532644147015 | 0.0286653096223153 | COAD | Male-baised eQTL |
| rs12410318 | chr1:230546234:A:T | - | 0.0889116424526388 | 0.0308420623119035 | COAD | Male-baised eQTL |
| rs149373918 | chr1:231123363:C:T | - | 0.0794700011580406 | 0.0332507835182138 | COAD | Male-baised eQTL |
| rs1339645 | chr1:237894724:T:A | - | 0.110355423038146 | 0.0375630025967532 | COAD | Male-baised eQTL |
| rs1591888 | chr1:237895185:C:T | - | 0.110355423038146 | 0.0375630025967532 | COAD | Male-baised eQTL |
| rs2298100 | chr1:237885025:A:G | - | -0.109526365176537 | 0.0406209040440233 | COAD | Male-baised eQTL |
| rs60871452 | chr1:223469862:C:T | - | 0.0614317395805252 | 0.0412592971712056 | COAD | Male-baised eQTL |
| rs2794812 | chr1:237880496:G:A | - | 0.0957423604735804 | 0.0465398593394917 | COAD | Male-baised eQTL |
| rs946581 | chr1:237880680:T:C | - | 0.0957423604735804 | 0.0465398593394917 | COAD | Male-baised eQTL |
| rs1361358 | chr1:237881117:C:T | - | 0.0957423604735804 | 0.0465398593394917 | COAD | Male-baised eQTL |
| rs1339648 | chr1:237879659:T:C | - | 0.0948557708771741 | 0.0476623180074666 | COAD | Male-baised eQTL |
| rs2096126 | chr1:237879978:G:A | - | 0.0948557708771741 | 0.0476623180074666 | COAD | Male-baised eQTL |
| rs9435838 | chr1:229313694:A:T | - | 0.0544024202280614 | 0.0476896550188425 | COAD | Male-baised eQTL |
| Opposite sex-biased eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Sex-biased Gene in Cancer | Cancer Type |
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Sex-biased eQTM regulation of gene |
| Sex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table). |
| eQTM | Description |
 | Gene ID: ENSG00000135766 |
| CpG Site: cg21875980 | |
| Position to Gene: gene | |
| Male Effect: - | |
| Female Effect: -0.436626526876933 |
| Male-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| Female-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg21875980 | chr1:231417764 | gene | -0.436626526876933 | 3.06062458439281e-17 | -0.5360809063308266 | 2.253829838595037e-20 | LUAD |
| Opposite sex-biased eQTM regulation. |
| CpG Site | CpG Postion | CpG Island | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Male Cor | Male P-value | Female Cor | Female P-value | Sex-biased Coding Gene | Cancer Type |
Top |
Sex-biased sQTL regulation of gene |
| Sex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTL | Description |
| Male-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs16841496 | chr1:230577494:A:C | Distant downstream | -0.024631705495059 | 0.0104802502668044 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs11122539 | chr1:230569600:A:C | Distant downstream | -0.0233467524349396 | 0.0192407321050852 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs3888630 | chr1:230574943:A:G | Distant downstream | -0.0230178606652399 | 0.0281217274857447 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs3761945 | chr1:230571022:G:A | Distant downstream | -0.0223194712855216 | 0.0319935037938258 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs10779846 | chr1:230570462:C:T | Distant downstream | -0.0223082073509114 | 0.0320011783910201 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs4846860 | chr1:230579384:A:G | Distant downstream | -0.0224045972833491 | 0.0354711090035575 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs886983 | chr1:230581428:A:G | Distant downstream | 0.0221646822818201 | 0.0474174738967663 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs4846984 | chr1:230579318:T:C | Distant downstream | -0.0218171429463045 | 0.0488746896734626 | LUAD | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs12402061 | chr1:231984897:T:A | Distant upstream | -0.0369996585557429 | 0.00735401889164234 | THCA | Female-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs374994482 | chr1:231995911:G:A | Distant upstream | -0.0340605950070956 | 0.0403039865973585 | THCA | Female-baised sQTL |
| Female-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs12086895 | chr1:232151398:G:T | Distant upstream | 0.0317141962158046 | 0.0447837383019736 | COAD | Male-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs73106938 | chr1:232309619:G:A | Distant upstream | -0.0385547763905564 | 0.0461486243784681 | COAD | Male-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs1887491 | chr1:230644229:G:C | Distant downstream | -0.0523143455961385 | 0.0472554130458351 | PAAD | Male-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs1887490 | chr1:230644248:A:G | Distant downstream | -0.0523143455961385 | 0.0472554130458351 | PAAD | Male-baised sQTL |
| exon_skip_38079 | chr1:231367568:231367636 | Frame-shift | rs12029374 | chr1:230646988:G:A | Distant downstream | -0.0523143455961385 | 0.0472554130458351 | PAAD | Male-baised sQTL |
| Opposite sex-biased sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Male Effect | Male FDR | Female Effect | Female FDR | Cancer Type |
Top |
Sex-biased sQTM regulation of gene |
| Sex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTM | Description |
| Male-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Female-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Opposite sex-biased sQTM regulation. |
| EX ID | EX Info | Skipped Exon | CPG Site | CPG Position | CPG Island | Position to EX Events | Male Effect | Male FDR | Female Effect | Female FDR | Male Correlation | Male P-value | Female Correlation | Female P-value | ORF_anno | Cancer Type |
Top |
Related disease information of EGLN1 |
| Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000135766 | EGLN1 | C0149504 | Encephalopathy, Toxic | 1 | CTD_human |
| ENSG00000135766 | EGLN1 | C0154659 | Toxic Encephalitis | 1 | CTD_human |
| ENSG00000135766 | EGLN1 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| ENSG00000135766 | EGLN1 | C1853286 | Erythrocytosis, Familial, 3 | 1 | CTD_human |
