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Gene: ENSG00000072110 |
Summary for ACTN1 |
 Gene summary |
| Gene information | Ensembl ID | ENSG00000072110 | Gene symbol | ACTN1 |
| Gene name | actinin alpha 1 | |
| HGNC | 163 | |
| Entrez ID | 87 | |
| Gene type | protein_coding | |
| Synonyms | ACTN1| | |
| UniProtAcc | P12814 |
| Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| ENSG00000072110 | ACTN1 | DB06773 | Human calcitonin | BiotechDrug |
| ENSG00000072110 | ACTN1 | DB09130 | Copper | 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 ACTN1 |
| 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. |
 |
| 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 |
| ACTN1 | 7.08e+03 | 1.34e+00 | 1.71e-01 | 7.81e+00 | 5.80e-15 | 1.60e-13 | THCA |
| ACTN1 | 1.54e+04 | -1.99e+00 | 3.50e-01 | -5.69e+00 | 1.24e-08 | 1.56e-07 | BLCA |
| Differentially expressed gene analysis between tumor female and normal female samples. |
 |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| ACTN1 | 2.85e+04 | 1.03e+00 | 2.25e-01 | 4.59e+00 | 4.53e-06 | 4.13e-05 | HNSC |
| ACTN1 | 3.83e+03 | -1.54e+00 | 2.96e-01 | -5.20e+00 | 1.99e-07 | 8.38e-07 | KICH |
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Sex-biased somatic mutation for ACTN1 |
| ∗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 ACTN1 |
| 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 |
| 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 |
| 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 ACTN1 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
| Landscape of exon skipping events across multiple cancer types. |
 |
| 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 |
| BLCA | exon_skip_114045 | 8.48e-03 | 2.50e-01 | -4.23e+00 | 2.33e-05 | 9.20e-04 | -2.42e-01 |
| BLCA | exon_skip_114048 | 9.83e-01 | 8.78e-01 | 4.51e+00 | 6.37e-06 | 5.16e-04 | 1.05e-01 |
| 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 |
| BRCA | exon_skip_114046 | 8.25e-01 | 9.64e-01 | -1.37e+01 | 1.01e-42 | 2.20e-40 | -1.39e-01 |
| BLCA | exon_skip_114046 | 8.56e-01 | 9.72e-01 | -2.54e+00 | 1.10e-02 | 2.97e-02 | -1.16e-01 |
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RNA A-to-I editing events in TCGA for ACTN1 |
| ∗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 ACTN1 |
| TFs related to ACTN1. ∗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. |
| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| ACTN1 related gene. ∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
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Sex-biased RBP-ES network for ACTN1 |
| RBPs related to ES in ACTN1. ∗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 |
| STAD | SAMD4A | exon_skip_114063 | 6.93e+00 | 9.84e-01 | 6.40e+00 | 2.22e-03 | Male-biased |
| ACC | SRSF7 | exon_skip_114063 | 9.84e+00 | 9.91e-01 | 9.36e+00 | 6.64e-03 | Male-biased |
| UVM | RBM6 | exon_skip_114070 | 9.73e+00 | 1.27e-02 | 1.00e+01 | 9.85e-01 | Female-biased |
| THYM | RBM6 | exon_skip_114070 | 9.71e+00 | 1.06e-02 | 1.00e+01 | 9.87e-01 | Female-biased |
| LIHC | SAMD4A | exon_skip_114056 | 6.78e+00 | 9.81e-01 | 6.25e+00 | 3.19e-03 | Male-biased |
| CHOL | RBM6 | exon_skip_114070 | 9.94e+00 | 9.85e-01 | 9.56e+00 | 1.26e-02 | Male-biased |
| CHOL | SRSF7 | exon_skip_114063 | 1.01e+01 | 9.84e-01 | 9.71e+00 | 1.36e-02 | Male-biased |
| KIRP | G3BP2 | exon_skip_114069 | 9.39e+00 | 9.92e-01 | 8.99e+00 | 4.67e-03 | Male-biased |
| KIRP | PCBP2 | exon_skip_114064 | 8.06e+00 | 9.84e-01 | 7.70e+00 | 7.36e-03 | Male-biased |
| KIRP | RBM6 | exon_skip_114070 | 9.94e+00 | 9.94e-01 | 9.51e+00 | 3.72e-03 | Male-biased |
| ESCA | SAMD4A | exon_skip_114056 | 7.25e+00 | 9.85e-01 | 6.66e+00 | 3.64e-03 | Male-biased |
| THCA | RBM6 | exon_skip_114070 | 9.63e+00 | 1.15e-02 | 9.91e+00 | 9.86e-01 | Female-biased |
| THCA | SAMD4A | exon_skip_114056 | 6.90e+00 | 9.85e-01 | 6.39e+00 | 5.55e-04 | Male-biased |
| PCPG | SAMD4A | exon_skip_114056 | 6.44e+00 | 9.79e-04 | 6.97e+00 | 9.85e-01 | Female-biased |
| LGG | SAMD4A | exon_skip_114056 | 6.59e+00 | 3.56e-03 | 7.02e+00 | 9.83e-01 | Female-biased |
| GBM | G3BP2 | exon_skip_114069 | 9.32e+00 | 9.85e-01 | 9.00e+00 | 1.20e-02 | Male-biased |
| PAAD | SAMD4A | exon_skip_114056 | 6.13e+00 | 1.13e-04 | 6.82e+00 | 9.85e-01 | Female-biased |
| PAAD | SAMD4A | exon_skip_114063 | 6.06e+00 | 1.20e-03 | 6.54e+00 | 9.81e-01 | Female-biased |
| KICH | RBM6 | exon_skip_114070 | 9.89e+00 | 9.83e-01 | 9.60e+00 | 1.47e-02 | Male-biased |
| KICH | SRSF7 | exon_skip_114063 | 9.40e+00 | 5.22e-03 | 9.78e+00 | 9.92e-01 | Female-biased |
| BLCA | SAMD4A | exon_skip_114056 | 6.34e+00 | 2.48e-03 | 6.84e+00 | 9.82e-01 | Female-biased |
| SKCM | PCBP2 | exon_skip_114064 | 7.84e+00 | 9.05e-03 | 8.21e+00 | 9.83e-01 | Female-biased |
| HNSC | MATR3 | exon_skip_114053 | 7.34e+00 | 9.78e-03 | 7.68e+00 | 9.81e-01 | Female-biased |
| SARC | G3BP2 | exon_skip_114069 | 9.36e+00 | 9.87e-01 | 8.99e+00 | 9.84e-03 | Male-biased |
| ACTN1 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 |
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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 |
| rs12884060 | chr14:73026027:G:A | - | 0.104481627662462 | 0.0269913624793818 | LIHC | Female-baised eQTL |
| rs12372882 | chr14:73027907:C:T | - | 0.103492073133087 | 0.0324327010969325 | LIHC | Female-baised eQTL |
| rs61988077 | chr14:73026452:G:C | - | 0.101105445250442 | 0.0417246127804449 | LIHC | Female-baised eQTL |
| rs12889202 | chr14:73026551:G:C | - | 0.101105445250442 | 0.0417246127804449 | LIHC | Female-baised eQTL |
| rs7492580 | chr14:73028747:C:T | - | 0.101105445250442 | 0.0417246127804449 | LIHC | Female-baised eQTL |
| rs12050153 | chr14:73010909:G:A | - | 0.0951836476411942 | 0.0427551430187123 | LIHC | Female-baised eQTL |
| rs12892338 | chr14:73011886:A:G | - | 0.0951836476411942 | 0.0427551430187123 | LIHC | Female-baised eQTL |
| rs966824 | chr14:61733800:T:C | - | -0.165230784304252 | 0.00881588183183606 | LUSC | Female-baised eQTL |
| rs1555585 | chr14:61740129:T:C | - | -0.165116087515206 | 0.00885026661162797 | LUSC | Female-baised eQTL |
| rs1967773 | chr14:61741451:T:C | - | -0.165116087515206 | 0.00885026661162797 | LUSC | Female-baised eQTL |
| rs994740 | chr14:61748657:T:C | - | -0.161494226808364 | 0.00886893103456063 | LUSC | Female-baised eQTL |
| rs4902080 | chr14:61741287:T:C | - | -0.161371174301704 | 0.00891082362372692 | LUSC | Female-baised eQTL |
| rs10131386 | chr14:61687717:A:G | - | -0.150551867449798 | 0.0143286426948289 | LUSC | Female-baised eQTL |
| rs12896279 | chr14:61742940:G:A | - | -0.148213265931126 | 0.0185975033870953 | LUSC | Female-baised eQTL |
| rs8020184 | chr14:61742376:C:T | - | -0.150837828960962 | 0.0192914619596223 | LUSC | Female-baised eQTL |
| rs3783751 | chr14:61742624:C:G | - | -0.150837828960962 | 0.0192914619596223 | LUSC | Female-baised eQTL |
| rs10137529 | chr14:61743787:T:C | - | -0.150837828960962 | 0.0192914619596223 | LUSC | Female-baised eQTL |
| rs10148514 | chr14:61721103:C:T | - | -0.141691481333834 | 0.0211316201561229 | LUSC | Female-baised eQTL |
| rs6574379 | chr14:77515645:A:G | - | -0.117961081922536 | 0.0212356873117665 | LUSC | Female-baised eQTL |
| rs10149323 | chr14:77492472:G:A | - | 0.13671838972639 | 0.0217659688614936 | LUSC | Female-baised eQTL |
| rs7155181 | chr14:77512981:T:C | - | -0.121451194715722 | 0.0234849737348592 | LUSC | Female-baised eQTL |
| rs12433414 | chr14:77513200:C:G | - | -0.121451194715722 | 0.0234849737348592 | LUSC | Female-baised eQTL |
| rs11159270 | chr14:77513665:A:G | - | -0.121451194715722 | 0.0234849737348592 | LUSC | Female-baised eQTL |
| rs8010934 | chr14:77505071:C:T | - | -0.122142124785376 | 0.0254841630690189 | LUSC | Female-baised eQTL |
| rs4903589 | chr14:77505682:T:C | - | -0.122142124785376 | 0.0254841630690189 | LUSC | Female-baised eQTL |
| rs13379482 | chr14:77486080:A:G | - | 0.132743741561821 | 0.0260607589544286 | LUSC | Female-baised eQTL |
| rs7147867 | chr14:77514900:T:C | - | -0.114646770488274 | 0.0271763569107529 | LUSC | Female-baised eQTL |
| rs12436583 | chr14:77513171:T:C | - | -0.119252754876884 | 0.0360004667337716 | LUSC | Female-baised eQTL |
| Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs77012013 | chr14:72549230:T:G | - | 0.434598247328949 | 0.000221377097116211 | GBM | Male-baised eQTL |
| rs76317564 | chr14:72549231:T:C | - | 0.434598247328949 | 0.000221377097116211 | GBM | Male-baised eQTL |
| rs17117326 | chr14:72550418:T:C | - | 0.286334488899066 | 0.0229921219449035 | GBM | Male-baised eQTL |
| rs115576282 | chr14:61251447:C:T | - | 0.225569137591118 | 0.0416829550099259 | GBM | Male-baised eQTL |
| rs17107504 | chr14:78405505:T:A | - | 0.106180456080207 | 0.0449440725797201 | LGG | Male-baised eQTL |
| rs10151446 | chr14:64115632:G:A | - | 0.0551809770798677 | 0.0179825297740763 | KIRC | Male-baised eQTL |
| rs12587924 | chr14:64123928:G:A | - | 0.0538266225373871 | 0.0230057803263279 | KIRC | Male-baised eQTL |
| rs10483918 | chr14:78897229:T:C | - | 0.0666797896771534 | 0.0179109035007365 | BLCA | Male-baised eQTL |
| rs75595000 | chr14:71855091:G:C | - | 0.0801136895513046 | 0.0228938552134249 | BLCA | Male-baised eQTL |
| rs8016382 | chr14:59199095:C:T | - | 0.047716661378206 | 0.0341885938508372 | BLCA | Male-baised eQTL |
| rs17768054 | chr14:71864892:G:A | - | 0.0766544353497619 | 0.0353349806923186 | BLCA | Male-baised eQTL |
| rs730024 | chr14:78965039:T:C | - | -0.0584506939815375 | 0.0379703440160012 | BLCA | Male-baised eQTL |
| rs7160771 | chr14:78896399:A:G | - | 0.0521618379838262 | 0.0401022039544108 | BLCA | Male-baised eQTL |
| rs17108429 | chr14:78964252:G:A | - | -0.0584201633575145 | 0.0421952901416598 | BLCA | Male-baised eQTL |
| rs72721660 | chr14:75392810:C:T | - | 0.0766442475306531 | 0.0484412085062613 | BLCA | Male-baised eQTL |
| rs2357482 | chr14:64384759:A:C | - | -0.193347769906067 | 0.00155884683109509 | COAD | Male-baised eQTL |
| rs2983740 | chr14:64379120:G:A | - | -0.192508376598349 | 0.00169098951320542 | COAD | Male-baised eQTL |
| rs1256094 | chr14:64374826:C:T | - | -0.182536573596507 | 0.00326615076918958 | COAD | Male-baised eQTL |
| rs1256096 | chr14:64367692:C:T | - | 0.182536573596507 | 0.00326615076918958 | COAD | Male-baised eQTL |
| rs761897 | chr14:69005122:G:A | - | 0.0966900280839607 | 0.00371889701963287 | COAD | Male-baised eQTL |
| rs4902282 | chr14:64406001:G:A | - | -0.178538420698948 | 0.00461230717637641 | COAD | Male-baised eQTL |
| rs2983744 | chr14:64377047:C:G | - | -0.171404992324805 | 0.00605319040234508 | COAD | Male-baised eQTL |
| rs2093209 | chr14:64393166:C:G | - | -0.154646113357204 | 0.00892169184883601 | COAD | Male-baised eQTL |
| rs2983734 | chr14:64382353:T:C | - | -0.170167974064526 | 0.0240737675236504 | COAD | Male-baised eQTL |
| rs8022694 | chr14:64213029:T:C | - | -0.110020532714799 | 0.0340333883840453 | COAD | Male-baised eQTL |
| rs1256098 | chr14:64366211:T:C | - | 0.159280925511075 | 0.0386862629796824 | 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: ENSG00000072110 |
| CpG Site: cg26303870 | |
| Position to Gene: gene | |
| Male Effect: - | |
| Female Effect: -0.41869040681551 |
| 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 |
| cg26303870 | chr14:68976966 | gene | -0.41869040681551 | 9.7634510421572e-10 | -0.42376481133155464 | 1.553009836381921e-12 | 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 |
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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_114048 | chr14:68878988:68879069 | In-frame | rs10130623 | chr14:68441499:G:A | Distant downstream | -0.0725581590909091 | 0.00785260648513589 | SARC | 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 |
| 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 |
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Related disease information of ACTN1 |
| Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000072110 | ACTN1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| ENSG00000072110 | ACTN1 | C3554663 | BLEEDING DISORDER, PLATELET-TYPE, 15 | 1 | CTD_human |
