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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PHACTR4 |
 Gene summary |
| Gene information | Gene symbol | PHACTR4 | Gene ID | 65979 |
| Gene name | phosphatase and actin regulator 4 | |
| Synonyms | PPP1R124 | |
| Cytomap | 1p35.3 | |
| Type of gene | protein-coding | |
| Description | phosphatase and actin regulator 4protein phosphatase 1, regulatory subunit 124 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IZ21 | |
| Context | PubMed: PHACTR4 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for PHACTR4 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for PHACTR4 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PHACTR4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_3300 | 1 | 28696254:28696336:28733920:28733974:28784342:28784370 | 28733920:28733974 | ENSG00000204138.8 | ENST00000493669.1 |
| exon_skip_3301 | 1 | 28696254:28696336:28733920:28733974:28785595:28785769 | 28733920:28733974 | ENSG00000204138.8 | ENST00000463428.1 |
| exon_skip_3314 | 1 | 28733920:28733974:28784342:28784370:28785595:28785769 | 28784342:28784370 | ENSG00000204138.8 | ENST00000493669.1 |
| exon_skip_3316 | 1 | 28733920:28733974:28785595:28785769:28786722:28786803 | 28785595:28785769 | ENSG00000204138.8 | ENST00000463428.1,ENST00000373839.3 |
| exon_skip_3333 | 1 | 28785595:28785769:28786722:28786803:28792195:28792360 | 28786722:28786803 | ENSG00000204138.8 | ENST00000493669.1,ENST00000463428.1,ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3336 | 1 | 28792195:28792360:28792892:28793279:28800065:28800663 | 28792892:28793279 | ENSG00000204138.8 | ENST00000493669.1,ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3339 | 1 | 28792892:28793279:28800065:28800663:28802618:28802803 | 28800065:28800663 | ENSG00000204138.8 | ENST00000493669.1,ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3345 | 1 | 28800065:28800663:28802618:28802803:28806962:28807116 | 28802618:28802803 | ENSG00000204138.8 | ENST00000493669.1,ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3347 | 1 | 28802618:28802803:28806962:28807116:28815681:28815737 | 28806962:28807116 | ENSG00000204138.8 | ENST00000493669.1,ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3348 | 1 | 28806962:28807116:28815681:28815737:28817462:28817524 | 28815681:28815737 | ENSG00000204138.8 | ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3352 | 1 | 28815681:28815737:28816285:28816406:28817462:28817524 | 28816285:28816406 | ENSG00000204138.8 | ENST00000493669.1 |
| exon_skip_3353 | 1 | 28815681:28815737:28817462:28817524:28818161:28818299 | 28817462:28817524 | ENSG00000204138.8 | ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3359 | 1 | 28818161:28818299:28819526:28819603:28823045:28823668 | 28819526:28819603 | ENSG00000204138.8 | ENST00000373836.3,ENST00000373839.3 |
| exon_skip_3361 | 1 | 28819526:28819603:28820741:28820834:28823045:28823668 | 28820741:28820834 | ENSG00000204138.8 | ENST00000493669.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PHACTR4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_3300 | 1 | 28696254:28696336:28733920:28733974:28784342:28784370 | 28733920:28733974 | ENSG00000204138.8 | ENST00000493669.1 |
| exon_skip_3301 | 1 | 28696254:28696336:28733920:28733974:28785595:28785769 | 28733920:28733974 | ENSG00000204138.8 | ENST00000463428.1 |
| exon_skip_3314 | 1 | 28733920:28733974:28784342:28784370:28785595:28785769 | 28784342:28784370 | ENSG00000204138.8 | ENST00000493669.1 |
| exon_skip_3316 | 1 | 28733920:28733974:28785595:28785769:28786722:28786803 | 28785595:28785769 | ENSG00000204138.8 | ENST00000373839.3,ENST00000463428.1 |
| exon_skip_3333 | 1 | 28785595:28785769:28786722:28786803:28792195:28792360 | 28786722:28786803 | ENSG00000204138.8 | ENST00000373839.3,ENST00000463428.1,ENST00000493669.1,ENST00000373836.3 |
| exon_skip_3336 | 1 | 28792195:28792360:28792892:28793279:28800065:28800663 | 28792892:28793279 | ENSG00000204138.8 | ENST00000373839.3,ENST00000493669.1,ENST00000373836.3 |
| exon_skip_3339 | 1 | 28792892:28793279:28800065:28800663:28802618:28802803 | 28800065:28800663 | ENSG00000204138.8 | ENST00000373839.3,ENST00000493669.1,ENST00000373836.3 |
| exon_skip_3345 | 1 | 28800065:28800663:28802618:28802803:28806962:28807116 | 28802618:28802803 | ENSG00000204138.8 | ENST00000373839.3,ENST00000493669.1,ENST00000373836.3 |
| exon_skip_3347 | 1 | 28802618:28802803:28806962:28807116:28815681:28815737 | 28806962:28807116 | ENSG00000204138.8 | ENST00000373839.3,ENST00000493669.1,ENST00000373836.3 |
| exon_skip_3348 | 1 | 28806962:28807116:28815681:28815737:28817462:28817524 | 28815681:28815737 | ENSG00000204138.8 | ENST00000373839.3,ENST00000373836.3 |
| exon_skip_3352 | 1 | 28815681:28815737:28816285:28816406:28817462:28817524 | 28816285:28816406 | ENSG00000204138.8 | ENST00000493669.1 |
| exon_skip_3353 | 1 | 28815681:28815737:28817462:28817524:28818161:28818299 | 28817462:28817524 | ENSG00000204138.8 | ENST00000373839.3,ENST00000373836.3 |
| exon_skip_3359 | 1 | 28818161:28818299:28819526:28819603:28823045:28823668 | 28819526:28819603 | ENSG00000204138.8 | ENST00000373839.3,ENST00000373836.3 |
| exon_skip_3361 | 1 | 28819526:28819603:28820741:28820834:28823045:28823668 | 28820741:28820834 | ENSG00000204138.8 | ENST00000493669.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PHACTR4 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000373839 | 28800065 | 28800663 | Frame-shift |
| ENST00000373839 | 28802618 | 28802803 | Frame-shift |
| ENST00000373839 | 28806962 | 28807116 | Frame-shift |
| ENST00000373839 | 28815681 | 28815737 | Frame-shift |
| ENST00000373839 | 28817462 | 28817524 | Frame-shift |
| ENST00000373839 | 28819526 | 28819603 | Frame-shift |
| ENST00000373839 | 28785595 | 28785769 | In-frame |
| ENST00000373839 | 28786722 | 28786803 | In-frame |
| ENST00000373839 | 28792892 | 28793279 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000373839 | 28800065 | 28800663 | Frame-shift |
| ENST00000373839 | 28802618 | 28802803 | Frame-shift |
| ENST00000373839 | 28806962 | 28807116 | Frame-shift |
| ENST00000373839 | 28815681 | 28815737 | Frame-shift |
| ENST00000373839 | 28817462 | 28817524 | Frame-shift |
| ENST00000373839 | 28819526 | 28819603 | Frame-shift |
| ENST00000373839 | 28785595 | 28785769 | In-frame |
| ENST00000373839 | 28786722 | 28786803 | In-frame |
| ENST00000373839 | 28792892 | 28793279 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PHACTR4 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000373839 | 6207 | 702 | 28785595 | 28785769 | 278 | 451 | 5 | 63 |
| ENST00000373839 | 6207 | 702 | 28786722 | 28786803 | 452 | 532 | 63 | 90 |
| ENST00000373839 | 6207 | 702 | 28792892 | 28793279 | 698 | 1084 | 145 | 274 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000373839 | 6207 | 702 | 28785595 | 28785769 | 278 | 451 | 5 | 63 |
| ENST00000373839 | 6207 | 702 | 28786722 | 28786803 | 452 | 532 | 63 | 90 |
| ENST00000373839 | 6207 | 702 | 28792892 | 28793279 | 698 | 1084 | 145 | 274 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for PHACTR4 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
PHACTR4_COAD_exon_skip_3339_psi_boxplot.png |
PHACTR4_KIRC_exon_skip_3339_psi_boxplot.png |
PHACTR4_SKCM_exon_skip_3339_psi_boxplot.png |
PHACTR4_STAD_exon_skip_3339_psi_boxplot.png |
PHACTR4_TGCT_exon_skip_3339_psi_boxplot.png |
PHACTR4_UVM_exon_skip_3339_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_3316 | 28785596 | 28785769 | 28785673 | 28785673 | Frame_Shift_Del | A | - | p.K32fs |
| HNSC | TCGA-CV-7418-01 | exon_skip_3316 | 28785596 | 28785769 | 28785730 | 28785730 | Frame_Shift_Del | A | - | p.K53fs |
| PAAD | TCGA-IB-7644-01 | exon_skip_3316 | 28785596 | 28785769 | 28785730 | 28785730 | Frame_Shift_Del | A | - | p.K53fs |
| PRAD | TCGA-2A-A8VV-01 | exon_skip_3316 | 28785596 | 28785769 | 28785730 | 28785730 | Frame_Shift_Del | A | - | p.K53fs |
| THYM | TCGA-XU-A92O-01 | exon_skip_3316 | 28785596 | 28785769 | 28785730 | 28785730 | Frame_Shift_Del | A | - | p.K53fs |
| UCEC | TCGA-D1-A101-01 | exon_skip_3316 | 28785596 | 28785769 | 28785730 | 28785730 | Frame_Shift_Del | A | - | p.K61fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_3333 | 28786723 | 28786803 | 28786770 | 28786770 | Frame_Shift_Del | A | - | p.K80fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_3336 | 28792893 | 28793279 | 28792946 | 28792946 | Frame_Shift_Del | C | - | p.P164fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_3336 | 28792893 | 28793279 | 28793078 | 28793078 | Frame_Shift_Del | C | - | p.P208fs |
| STAD | TCGA-BR-4362-01 | exon_skip_3336 | 28792893 | 28793279 | 28793193 | 28793193 | Frame_Shift_Del | C | - | p.T256fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_3336 | 28792893 | 28793279 | 28793228 | 28793228 | Frame_Shift_Del | C | - | p.P259fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_3336 | 28792893 | 28793279 | 28793240 | 28793240 | Frame_Shift_Del | C | - | p.P263fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_3336 | 28792893 | 28793279 | 28793269 | 28793269 | Frame_Shift_Del | C | - | p.N271fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_3339 | 28800066 | 28800663 | 28800114 | 28800114 | Frame_Shift_Del | C | - | p.S291fs |
| COAD | TCGA-AY-6197-01 | exon_skip_3339 | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S344fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_3339 | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S344fs |
| STAD | TCGA-BR-8360-01 | exon_skip_3339 | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S354fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_3339 | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S354fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_3339 | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S354fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_3339 | 28800066 | 28800663 | 28800596 | 28800596 | Frame_Shift_Del | T | - | p.F452fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_3353 | 28817463 | 28817524 | 28817465 | 28817465 | Frame_Shift_Del | A | - | p.K607fs |
| STAD | TCGA-CG-5733-01 | exon_skip_3359 | 28819527 | 28819603 | 28819557 | 28819557 | Frame_Shift_Del | A | - | p.F692fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_3339 | 28800066 | 28800663 | 28800272 | 28800273 | Frame_Shift_Ins | - | C | p.S344fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_3339 | 28800066 | 28800663 | 28800272 | 28800273 | Frame_Shift_Ins | - | C | p.P344fs |
| LUAD | TCGA-50-5066-02 | exon_skip_3339 | 28800066 | 28800663 | 28800272 | 28800273 | Frame_Shift_Ins | - | C | p.P344fs |
| TGCT | TCGA-S6-A8JY-01 | exon_skip_3339 | 28800066 | 28800663 | 28800272 | 28800273 | Frame_Shift_Ins | - | C | p.P344fs |
| UVM | TCGA-VD-A8KO-01 | exon_skip_3339 | 28800066 | 28800663 | 28800272 | 28800273 | Frame_Shift_Ins | - | C | p.P344fs |
| UVM | TCGA-VD-A8KO-01 | exon_skip_3339 | 28800066 | 28800663 | 28800272 | 28800273 | Frame_Shift_Ins | - | C | p.S354fs |
| COAD | TCGA-A6-5665-01 | exon_skip_3339 | 28800066 | 28800663 | 28800457 | 28800458 | Frame_Shift_Ins | - | C | p.E405fs |
| KIRC | TCGA-EU-5905-01 | exon_skip_3316 | 28785596 | 28785769 | 28785764 | 28785764 | Nonsense_Mutation | C | A | p.S62* |
| KIRC | TCGA-EU-5905-01 | exon_skip_3316 | 28785596 | 28785769 | 28785764 | 28785764 | Nonsense_Mutation | C | A | p.S72X |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_3333 | 28786723 | 28786803 | 28786746 | 28786746 | Nonsense_Mutation | C | T | p.R82* |
| BLCA | TCGA-BT-A42F-01 | exon_skip_3339 | 28800066 | 28800663 | 28800147 | 28800147 | Nonsense_Mutation | C | G | p.S302* |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_3339 | 28800066 | 28800663 | 28800500 | 28800500 | Nonsense_Mutation | C | T | p.R420* |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_3339 | 28800066 | 28800663 | 28800500 | 28800500 | Nonsense_Mutation | C | T | p.R430X |
| UCEC | TCGA-B5-A11E-01 | exon_skip_3345 | 28802619 | 28802803 | 28802770 | 28802770 | Nonsense_Mutation | C | T | p.R535* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_3353 | 28817463 | 28817524 | 28817495 | 28817495 | Nonsense_Mutation | C | T | p.R627* |
| BLCA | TCGA-DK-A3IQ-01 | exon_skip_3359 | 28819527 | 28819603 | 28819542 | 28819542 | Nonsense_Mutation | G | T | p.E678* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_3301 exon_skip_3300 | 28733921 | 28733974 | 28733920 | 28733920 | Splice_Site | G | T | e1-1 |
| SKCM | TCGA-FS-A1ZP-06 | exon_skip_3316 | 28785596 | 28785769 | 28785771 | 28785771 | Splice_Site | T | G | . |
| HNSC | TCGA-CN-4723-01 | exon_skip_3347 | 28806963 | 28807116 | 28806962 | 28806962 | Splice_Site | G | A | p.S536_splice |
| STAD | TCGA-BR-6452-01 | exon_skip_3359 | 28819527 | 28819603 | 28819605 | 28819605 | Splice_Site | T | G | p.R698_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HU-A4GQ-01 |
| Cancer type: STAD | |
| ESID: exon_skip_3339 | |
| Skipped exon start: 28800066 | |
| Skipped exon end: 28800663 | |
| Mutation start: 28800273 | |
| Mutation end: 28800273 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.S354fs | |
exon_skip_102588_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_137953_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_28428_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_298309_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_299452_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_3339_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_454598_STAD_TCGA-HU-A4GQ-01.png | |
exon_skip_473424_STAD_TCGA-HU-A4GQ-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| EFO27_OVARY | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S344fs |
| SNU1040_LARGE_INTESTINE | 28800066 | 28800663 | 28800273 | 28800273 | Frame_Shift_Del | C | - | p.S344fs |
| DIFI_LARGE_INTESTINE | 28800066 | 28800663 | 28800293 | 28800297 | Frame_Shift_Del | ATACC | - | p.IP351fs |
| MFE296_ENDOMETRIUM | 28817463 | 28817524 | 28817465 | 28817465 | Frame_Shift_Del | A | - | p.K607fs |
| LS180_LARGE_INTESTINE | 28792893 | 28793279 | 28793192 | 28793193 | Frame_Shift_Ins | - | C | p.T246fs |
| CW2_LARGE_INTESTINE | 28800066 | 28800663 | 28800189 | 28800190 | Frame_Shift_Ins | - | A | p.TK316fs |
| ES6_BONE | 28802619 | 28802803 | 28802729 | 28802731 | In_Frame_Del | AGA | - | p.K512del |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28785596 | 28785769 | 28785670 | 28785670 | Missense_Mutation | A | G | p.T31A |
| TASK1_CENTRAL_NERVOUS_SYSTEM | 28785596 | 28785769 | 28785723 | 28785723 | Missense_Mutation | A | C | p.K48N |
| WM88_SKIN | 28785596 | 28785769 | 28785728 | 28785728 | Missense_Mutation | G | A | p.R50K |
| UMUC5_URINARY_TRACT | 28785596 | 28785769 | 28785753 | 28785753 | Missense_Mutation | T | G | p.F58L |
| C80_LARGE_INTESTINE | 28792893 | 28793279 | 28792913 | 28792913 | Missense_Mutation | A | G | p.N153D |
| JHU011_UPPER_AERODIGESTIVE_TRACT | 28792893 | 28793279 | 28793031 | 28793031 | Missense_Mutation | C | G | p.S192C |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28792893 | 28793279 | 28793081 | 28793081 | Missense_Mutation | G | A | p.A209T |
| M059J_CENTRAL_NERVOUS_SYSTEM | 28792893 | 28793279 | 28793154 | 28793154 | Missense_Mutation | C | T | p.T233I |
| COLO783_SKIN | 28792893 | 28793279 | 28793243 | 28793243 | Missense_Mutation | C | T | p.P263S |
| LNCAPCLONEFGC_PROSTATE | 28800066 | 28800663 | 28800150 | 28800150 | Missense_Mutation | C | T | p.T303I |
| WM278_SKIN | 28800066 | 28800663 | 28800279 | 28800279 | Missense_Mutation | C | A | p.P346Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28800066 | 28800663 | 28800312 | 28800312 | Missense_Mutation | G | A | p.R357H |
| A431_SKIN | 28800066 | 28800663 | 28800353 | 28800353 | Missense_Mutation | G | C | p.E371Q |
| RT4_URINARY_TRACT | 28800066 | 28800663 | 28800396 | 28800396 | Missense_Mutation | C | T | p.P385L |
| SNU61_LARGE_INTESTINE | 28800066 | 28800663 | 28800422 | 28800422 | Missense_Mutation | G | T | p.V394F |
| SW156_KIDNEY | 28800066 | 28800663 | 28800422 | 28800422 | Missense_Mutation | G | A | p.V394I |
| LS180_LARGE_INTESTINE | 28800066 | 28800663 | 28800466 | 28800466 | Missense_Mutation | A | G | p.I408M |
| NO10_CENTRAL_NERVOUS_SYSTEM | 28800066 | 28800663 | 28800512 | 28800512 | Missense_Mutation | G | A | p.A424T |
| HSC1_SKIN | 28800066 | 28800663 | 28800534 | 28800534 | Missense_Mutation | T | A | p.M431K |
| 42MGBA_CENTRAL_NERVOUS_SYSTEM | 28800066 | 28800663 | 28800537 | 28800537 | Missense_Mutation | C | T | p.T432I |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 28800066 | 28800663 | 28800592 | 28800592 | Missense_Mutation | C | G | p.D450E |
| AN3CA_ENDOMETRIUM | 28802619 | 28802803 | 28802678 | 28802678 | Missense_Mutation | C | T | p.T494I |
| HCC1187_BREAST | 28802619 | 28802803 | 28802736 | 28802736 | Missense_Mutation | G | T | p.E513D |
| HCC1806_BREAST | 28806963 | 28807116 | 28807062 | 28807062 | Missense_Mutation | A | G | p.K569R |
| SNUC5_LARGE_INTESTINE | 28806963 | 28807116 | 28807113 | 28807113 | Missense_Mutation | T | A | p.I586N |
| CAL29_URINARY_TRACT | 28817463 | 28817524 | 28817514 | 28817514 | Missense_Mutation | T | C | p.L623P |
| HUH28_BILIARY_TRACT | 28819527 | 28819603 | 28819564 | 28819564 | Missense_Mutation | C | G | p.S685C |
| CL40_LARGE_INTESTINE | 28819527 | 28819603 | 28819566 | 28819566 | Missense_Mutation | G | A | p.E686K |
| CA922_UPPER_AERODIGESTIVE_TRACT | 28819527 | 28819603 | 28819600 | 28819600 | Missense_Mutation | C | A | p.T697K |
| HT115_LARGE_INTESTINE | 28802619 | 28802803 | 28802619 | 28802619 | Splice_Site | T | C | p.V474V |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28806963 | 28807116 | 28807116 | 28807116 | Splice_Site | G | A | p.R587Q |
| GP2D_LARGE_INTESTINE | 28819527 | 28819603 | 28819602 | 28819602 | Splice_Site | C | T | p.R698C |
| GP5D_LARGE_INTESTINE | 28819527 | 28819603 | 28819602 | 28819602 | Splice_Site | C | T | p.R698C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHACTR4 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_3361 | 1 | 28819526:28819603:28820741:28820834:28823045:28823668 | 28820741:28820834 | ENST00000493669.1 | LGG | rs10799118 | chr1:28820834 | G/A | 4.25e-05 |
| exon_skip_3339 | 1 | 28792892:28793279:28800065:28800663:28802618:28802803 | 28800065:28800663 | ENST00000493669.1,ENST00000373836.3,ENST00000373839.3 | LGG | rs61785974 | chr1:28800380 | C/A | 5.56e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHACTR4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHACTR4 |
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RelatedDrugs for PHACTR4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PHACTR4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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