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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 SCRIB |
 Gene summary |
| Gene information | Gene symbol | SCRIB | Gene ID | 23513 |
| Gene name | scribbled planar cell polarity protein | |
| Synonyms | CRIB1|SCRB1|SCRIB1|Vartul | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | protein scribble homologscribbled homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q14160 | |
| Context | PubMed: SCRIB [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 |
| SCRIB | GO:0008283 | cell proliferation | 16965391 |
| SCRIB | GO:0045930 | negative regulation of mitotic cell cycle | 16965391 |
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Exon skipping events across known transcript of Ensembl for SCRIB 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 SCRIB |
| 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 SCRIB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_493821 | 8 | 144873558:144873610:144873835:144873910:144874045:144874083 | 144873835:144873910 | ENSG00000180900.12 | ENST00000356994.2 |
| exon_skip_493825 | 8 | 144873558:144873610:144874045:144874083:144874160:144874303 | 144874045:144874083 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000526832.1 |
| exon_skip_493826 | 8 | 144874160:144874303:144874389:144874571:144874654:144874801 | 144874389:144874571 | ENSG00000180900.12 | ENST00000525051.1 |
| exon_skip_493827 | 8 | 144874160:144874303:144874389:144874575:144874654:144874801 | 144874389:144874575 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000526832.1,ENST00000356994.2 |
| exon_skip_493830 | 8 | 144874778:144874805:144874877:144875037:144875145:144875253 | 144874877:144875037 | ENSG00000180900.12 | ENST00000525051.1,ENST00000546337.1,ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493845 | 8 | 144874877:144875037:144875145:144875253:144876069:144876132 | 144875145:144875253 | ENSG00000180900.12 | ENST00000546337.1,ENST00000320476.3,ENST00000377533.3,ENST00000526832.1,ENST00000356994.2 |
| exon_skip_493864 | 8 | 144877446:144877503:144877589:144877700:144885552:144885741 | 144877589:144877700 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000526832.1,ENST00000356994.2 |
| exon_skip_493869 | 8 | 144877594:144877700:144885552:144885741:144885816:144886110 | 144885552:144885741 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000526832.1,ENST00000356994.2 |
| exon_skip_493871 | 8 | 144885552:144885741:144885816:144886110:144886215:144886321 | 144885816:144886110 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000526832.1,ENST00000356994.2 |
| exon_skip_493876 | 8 | 144886215:144886326:144886737:144886995:144887103:144887184 | 144886737:144886995 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493882 | 8 | 144887124:144887184:144887281:144887605:144888576:144888654 | 144887281:144887605 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493885 | 8 | 144887421:144887605:144888576:144888654:144889093:144889183 | 144888576:144888654 | ENSG00000180900.12 | ENST00000320476.3,ENST00000531942.1,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493886 | 8 | 144888576:144888654:144889093:144889183:144890778:144890847 | 144889093:144889183 | ENSG00000180900.12 | ENST00000531942.1 |
| exon_skip_493890 | 8 | 144889093:144889183:144889721:144889784:144890778:144890847 | 144889721:144889784 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493893 | 8 | 144889721:144889784:144890778:144891195:144891720:144891827 | 144890778:144891195 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493899 | 8 | 144894986:144895131:144895199:144895274:144895480:144895544 | 144895199:144895274 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493900 | 8 | 144895806:144895896:144895987:144896066:144896170:144896288 | 144895987:144896066 | ENSG00000180900.12 | ENST00000320476.3,ENST00000377533.3,ENST00000356994.2 |
| exon_skip_493901 | 8 | 144895987:144896066:144896170:144896288:144897383:144897549 | 144896170:144896288 | ENSG00000180900.12 | ENST00000320476.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SCRIB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_493821 | 8 | 144873558:144873610:144873835:144873910:144874045:144874083 | 144873835:144873910 | ENSG00000180900.12 | ENST00000356994.2 |
| exon_skip_493825 | 8 | 144873558:144873610:144874045:144874083:144874160:144874303 | 144874045:144874083 | ENSG00000180900.12 | ENST00000320476.3,ENST00000526832.1,ENST00000377533.3 |
| exon_skip_493826 | 8 | 144874160:144874303:144874389:144874571:144874654:144874801 | 144874389:144874571 | ENSG00000180900.12 | ENST00000525051.1 |
| exon_skip_493827 | 8 | 144874160:144874303:144874389:144874575:144874654:144874801 | 144874389:144874575 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000526832.1,ENST00000377533.3 |
| exon_skip_493830 | 8 | 144874778:144874805:144874877:144875037:144875145:144875253 | 144874877:144875037 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000525051.1,ENST00000377533.3,ENST00000546337.1 |
| exon_skip_493845 | 8 | 144874877:144875037:144875145:144875253:144876069:144876132 | 144875145:144875253 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000526832.1,ENST00000377533.3,ENST00000546337.1 |
| exon_skip_493864 | 8 | 144877446:144877503:144877589:144877700:144885552:144885741 | 144877589:144877700 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000526832.1,ENST00000377533.3 |
| exon_skip_493869 | 8 | 144877594:144877700:144885552:144885741:144885816:144886110 | 144885552:144885741 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000526832.1,ENST00000377533.3 |
| exon_skip_493871 | 8 | 144885552:144885741:144885816:144886110:144886215:144886321 | 144885816:144886110 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000526832.1,ENST00000377533.3 |
| exon_skip_493876 | 8 | 144886215:144886326:144886737:144886995:144887103:144887184 | 144886737:144886995 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000377533.3 |
| exon_skip_493882 | 8 | 144887124:144887184:144887281:144887605:144888576:144888654 | 144887281:144887605 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000377533.3 |
| exon_skip_493885 | 8 | 144887421:144887605:144888576:144888654:144889093:144889183 | 144888576:144888654 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000377533.3,ENST00000531942.1 |
| exon_skip_493886 | 8 | 144888576:144888654:144889093:144889183:144890778:144890847 | 144889093:144889183 | ENSG00000180900.12 | ENST00000531942.1 |
| exon_skip_493890 | 8 | 144889093:144889183:144889721:144889784:144890778:144890847 | 144889721:144889784 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000377533.3 |
| exon_skip_493893 | 8 | 144889721:144889784:144890778:144891195:144891720:144891827 | 144890778:144891195 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000377533.3 |
| exon_skip_493899 | 8 | 144894986:144895131:144895199:144895274:144895480:144895544 | 144895199:144895274 | ENSG00000180900.12 | ENST00000356994.2,ENST00000320476.3,ENST00000377533.3 |
| 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 SCRIB |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SCRIB |
| 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 |
| 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 |
| 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 SCRIB |
| - 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. |
SCRIB_PCPG_exon_skip_493827_psi_boxplot.png |
SCRIB_STAD_exon_skip_493826_psi_boxplot.png |
SCRIB_STAD_exon_skip_493827_psi_boxplot.png |
SCRIB_THYM_exon_skip_493882_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-A39Y-01 | exon_skip_493830 | 144874878 | 144875037 | 144874940 | 144874940 | Frame_Shift_Del | C | - | p.G1372fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_493845 | 144875146 | 144875253 | 144875196 | 144875196 | Frame_Shift_Del | C | - | p.A1323fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_493845 | 144875146 | 144875253 | 144875243 | 144875243 | Frame_Shift_Del | G | - | p.P1308fs |
| SKCM | TCGA-WE-AA9Y-06 | exon_skip_493871 | 144885817 | 144886110 | 144886005 | 144886005 | Frame_Shift_Del | T | - | p.S1076fs |
| COAD | TCGA-AD-6889-01 | exon_skip_493876 | 144886738 | 144886995 | 144886852 | 144886852 | Frame_Shift_Del | G | - | p.T966fs |
| COAD | TCGA-AM-5820-01 | exon_skip_493876 | 144886738 | 144886995 | 144886852 | 144886852 | Frame_Shift_Del | G | - | p.T966fs |
| COAD | TCGA-D5-6540-01 | exon_skip_493876 | 144886738 | 144886995 | 144886852 | 144886852 | Frame_Shift_Del | G | - | p.T966fs |
| LGG | TCGA-DH-A66B-01 | exon_skip_493876 | 144886738 | 144886995 | 144886879 | 144886882 | Frame_Shift_Del | GGGA | - | p.956_957del |
| LGG | TCGA-DH-A66B-01 | exon_skip_493876 | 144886738 | 144886995 | 144886879 | 144886882 | Frame_Shift_Del | GGGA | - | p.PP955fs |
| THYM | TCGA-ZB-A96E-01 | exon_skip_493882 | 144887282 | 144887605 | 144887583 | 144887583 | Frame_Shift_Del | C | - | p.G790fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_493886 | 144889094 | 144889183 | 144889102 | 144889102 | Frame_Shift_Del | C | - | p.D755fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_493886 | 144889094 | 144889183 | 144889102 | 144889102 | Frame_Shift_Del | C | - | p.D755fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_493886 | 144889094 | 144889183 | 144889122 | 144889122 | Frame_Shift_Del | C | - | p.G747fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_493893 | 144890779 | 144891195 | 144890805 | 144890805 | Frame_Shift_Del | C | - | p.A697fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_493893 | 144890779 | 144891195 | 144890805 | 144890805 | Frame_Shift_Del | C | - | p.A697fs |
| BRCA | TCGA-AO-A0J5-01 | exon_skip_493893 | 144890779 | 144891195 | 144891156 | 144891156 | Frame_Shift_Del | C | - | p.D580fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_493900 | 144895988 | 144896066 | 144896028 | 144896028 | Frame_Shift_Del | C | - | p.A106fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_493901 | 144896171 | 144896288 | 144896281 | 144896281 | Frame_Shift_Del | A | - | p.F56fs |
| LUAD | TCGA-55-8091-01 | exon_skip_493901 | 144896171 | 144896288 | 144896281 | 144896281 | Frame_Shift_Del | A | - | p.F56fs |
| PCPG | TCGA-SP-A6QC-01 | exon_skip_493826 | 144874390 | 144874571 | 144874553 | 144874554 | Frame_Shift_Ins | - | C | p.PP1450fs |
| PCPG | TCGA-SP-A6QC-01 | exon_skip_493827 | 144874390 | 144874575 | 144874553 | 144874554 | Frame_Shift_Ins | - | C | p.PP1450fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_493826 | 144874390 | 144874571 | 144874553 | 144874554 | Frame_Shift_Ins | - | C | p.P1450fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_493827 | 144874390 | 144874575 | 144874553 | 144874554 | Frame_Shift_Ins | - | C | p.P1450fs |
| UCEC | TCGA-D1-A0ZO-01 | exon_skip_493901 | 144896171 | 144896288 | 144896280 | 144896281 | Frame_Shift_Ins | - | A | p.F56fs |
| UCS | TCGA-N9-A4Q4-01 | exon_skip_493869 | 144885553 | 144885741 | 144885555 | 144885555 | Nonsense_Mutation | C | A | p.E1201* |
| KICH | TCGA-KN-8433-01 | exon_skip_493893 | 144890779 | 144891195 | 144890886 | 144890886 | Nonsense_Mutation | G | A | p.Q670* |
| KICH | TCGA-KN-8433-01 | exon_skip_493893 | 144890779 | 144891195 | 144890886 | 144890886 | Nonsense_Mutation | G | A | p.Q670X |
| LIHC | TCGA-DD-A39Z-01 | exon_skip_493893 | 144890779 | 144891195 | 144890960 | 144890960 | Nonsense_Mutation | C | T | p.W645* |
| LIHC | TCGA-DD-A39Z-01 | exon_skip_493893 | 144890779 | 144891195 | 144890960 | 144890960 | Nonsense_Mutation | C | T | p.W645X |
| PCPG | TCGA-SR-A6MP-01 | exon_skip_493893 | 144890779 | 144891195 | 144891006 | 144891006 | Nonsense_Mutation | G | A | p.Q630* |
| PCPG | TCGA-SR-A6MP-01 | exon_skip_493893 | 144890779 | 144891195 | 144891006 | 144891006 | Nonsense_Mutation | G | A | p.Q630X |
| STAD | TCGA-HU-8602-01 | exon_skip_493826 | 144874390 | 144874571 | 144874388 | 144874388 | Splice_Site | A | G | p.R1505_splice |
| STAD | TCGA-HU-8602-01 | exon_skip_493827 | 144874390 | 144874575 | 144874388 | 144874388 | Splice_Site | A | G | p.R1505_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ZB-A96E-01 |
| Cancer type: THYM | |
| ESID: exon_skip_493882 | |
| Skipped exon start: 144887282 | |
| Skipped exon end: 144887605 | |
| Mutation start: 144887583 | |
| Mutation end: 144887583 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G790fs | |
exon_skip_493882_THYM_TCGA-ZB-A96E-01.png | |
 | Sample: TCGA-HU-8602-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493827 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874575 | |
| Mutation start: 144874388 | |
| Mutation end: 144874388 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.R1505_splice | |
| Sample: TCGA-HU-8602-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493826 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874571 | |
| Mutation start: 144874388 | |
| Mutation end: 144874388 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.R1505_splice | |
exon_skip_110606_STAD_TCGA-HU-8602-01.png | |
exon_skip_12723_STAD_TCGA-HU-8602-01.png | |
exon_skip_12741_STAD_TCGA-HU-8602-01.png | |
exon_skip_129202_STAD_TCGA-HU-8602-01.png | |
exon_skip_142361_STAD_TCGA-HU-8602-01.png | |
exon_skip_17013_STAD_TCGA-HU-8602-01.png | |
exon_skip_28391_STAD_TCGA-HU-8602-01.png | |
exon_skip_328529_STAD_TCGA-HU-8602-01.png | |
exon_skip_35193_STAD_TCGA-HU-8602-01.png | |
exon_skip_364609_STAD_TCGA-HU-8602-01.png | |
exon_skip_3733_STAD_TCGA-HU-8602-01.png | |
exon_skip_3734_STAD_TCGA-HU-8602-01.png | |
exon_skip_424540_STAD_TCGA-HU-8602-01.png | |
exon_skip_443675_STAD_TCGA-HU-8602-01.png | |
exon_skip_466134_STAD_TCGA-HU-8602-01.png | |
exon_skip_475115_STAD_TCGA-HU-8602-01.png | |
exon_skip_482067_STAD_TCGA-HU-8602-01.png | |
exon_skip_489785_STAD_TCGA-HU-8602-01.png | |
exon_skip_489794_STAD_TCGA-HU-8602-01.png | |
exon_skip_493826_STAD_TCGA-HU-8602-01.png | |
exon_skip_493827_STAD_TCGA-HU-8602-01.png | |
exon_skip_51385_STAD_TCGA-HU-8602-01.png | |
exon_skip_81726_STAD_TCGA-HU-8602-01.png | |
exon_skip_84502_STAD_TCGA-HU-8602-01.png | |
exon_skip_96034_STAD_TCGA-HU-8602-01.png | |
 | Sample: TCGA-CD-A4MG-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493827 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874575 | |
| Mutation start: 144874553 | |
| Mutation end: 144874554 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P1450fs | |
| Sample: TCGA-CD-A4MG-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493826 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874571 | |
| Mutation start: 144874553 | |
| Mutation end: 144874554 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P1450fs | |
exon_skip_126223_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_140893_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_149455_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_27769_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_373886_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_4028_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_434040_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_452918_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_460764_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_460769_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_464126_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_467032_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_477308_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_493826_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_493827_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_499045_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_63587_STAD_TCGA-CD-A4MG-01.png | |
exon_skip_74321_STAD_TCGA-CD-A4MG-01.png | |
 | Sample: TCGA-HU-8602-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493827 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874575 | |
| Mutation start: 144874388 | |
| Mutation end: 144874388 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.R1505_splice | |
| Sample: TCGA-HU-8602-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493826 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874571 | |
| Mutation start: 144874388 | |
| Mutation end: 144874388 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.R1505_splice | |
| exon_skip_110606_STAD_TCGA-HU-8602-01.png | |
| exon_skip_12723_STAD_TCGA-HU-8602-01.png | |
| exon_skip_12741_STAD_TCGA-HU-8602-01.png | |
| exon_skip_129202_STAD_TCGA-HU-8602-01.png | |
| exon_skip_142361_STAD_TCGA-HU-8602-01.png | |
| exon_skip_17013_STAD_TCGA-HU-8602-01.png | |
| exon_skip_28391_STAD_TCGA-HU-8602-01.png | |
| exon_skip_328529_STAD_TCGA-HU-8602-01.png | |
| exon_skip_35193_STAD_TCGA-HU-8602-01.png | |
| exon_skip_364609_STAD_TCGA-HU-8602-01.png | |
| exon_skip_3733_STAD_TCGA-HU-8602-01.png | |
| exon_skip_3734_STAD_TCGA-HU-8602-01.png | |
| exon_skip_424540_STAD_TCGA-HU-8602-01.png | |
| exon_skip_443675_STAD_TCGA-HU-8602-01.png | |
| exon_skip_466134_STAD_TCGA-HU-8602-01.png | |
| exon_skip_475115_STAD_TCGA-HU-8602-01.png | |
| exon_skip_482067_STAD_TCGA-HU-8602-01.png | |
| exon_skip_489785_STAD_TCGA-HU-8602-01.png | |
| exon_skip_489794_STAD_TCGA-HU-8602-01.png | |
| exon_skip_493826_STAD_TCGA-HU-8602-01.png | |
| exon_skip_493827_STAD_TCGA-HU-8602-01.png | |
| exon_skip_51385_STAD_TCGA-HU-8602-01.png | |
| exon_skip_81726_STAD_TCGA-HU-8602-01.png | |
| exon_skip_84502_STAD_TCGA-HU-8602-01.png | |
| exon_skip_96034_STAD_TCGA-HU-8602-01.png | |
 | Sample: TCGA-CD-A4MG-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493827 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874575 | |
| Mutation start: 144874553 | |
| Mutation end: 144874554 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P1450fs | |
| Sample: TCGA-CD-A4MG-01 |
| Cancer type: STAD | |
| ESID: exon_skip_493826 | |
| Skipped exon start: 144874390 | |
| Skipped exon end: 144874571 | |
| Mutation start: 144874553 | |
| Mutation end: 144874554 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.P1450fs | |
| exon_skip_126223_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_140893_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_149455_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_27769_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_373886_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_4028_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_434040_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_452918_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_460764_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_460769_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_464126_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_467032_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_477308_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_493826_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_493827_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_499045_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_63587_STAD_TCGA-CD-A4MG-01.png | |
| exon_skip_74321_STAD_TCGA-CD-A4MG-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 |
| SNU407_LARGE_INTESTINE | 144874878 | 144875037 | 144875032 | 144875032 | Frame_Shift_Del | G | - | p.P1341fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144885553 | 144885741 | 144885726 | 144885726 | Frame_Shift_Del | C | - | p.A1145fs |
| CW2_LARGE_INTESTINE | 144886738 | 144886995 | 144886852 | 144886852 | Frame_Shift_Del | G | - | p.P965fs |
| PACADD137_PANCREAS | 144886738 | 144886995 | 144886927 | 144886927 | Frame_Shift_Del | G | - | p.P940fs |
| IHH4_THYROID | 144874390 | 144874575 | 144874432 | 144874432 | Missense_Mutation | C | T | p.R1491Q |
| IHH4_THYROID | 144874390 | 144874571 | 144874432 | 144874432 | Missense_Mutation | C | T | p.R1491Q |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144874390 | 144874575 | 144874466 | 144874466 | Missense_Mutation | C | T | p.A1480T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144874390 | 144874571 | 144874466 | 144874466 | Missense_Mutation | C | T | p.A1480T |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144874390 | 144874575 | 144874507 | 144874507 | Missense_Mutation | C | T | p.R1466H |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144874390 | 144874571 | 144874507 | 144874507 | Missense_Mutation | C | T | p.R1466H |
| HEC59_ENDOMETRIUM | 144874390 | 144874575 | 144874508 | 144874508 | Missense_Mutation | G | A | p.R1466C |
| HEC59_ENDOMETRIUM | 144874390 | 144874571 | 144874508 | 144874508 | Missense_Mutation | G | A | p.R1466C |
| KYSE450_OESOPHAGUS | 144874390 | 144874575 | 144874552 | 144874552 | Missense_Mutation | G | A | p.P1451L |
| KYSE450_OESOPHAGUS | 144874390 | 144874571 | 144874552 | 144874552 | Missense_Mutation | G | A | p.P1451L |
| MEWO_SKIN | 144874390 | 144874575 | 144874556 | 144874556 | Missense_Mutation | G | A | p.P1450S |
| MEWO_SKIN | 144874390 | 144874571 | 144874556 | 144874556 | Missense_Mutation | G | A | p.P1450S |
| HEC108_ENDOMETRIUM | 144874390 | 144874575 | 144874564 | 144874564 | Missense_Mutation | G | A | p.A1447V |
| HEC108_ENDOMETRIUM | 144874390 | 144874571 | 144874564 | 144874564 | Missense_Mutation | G | A | p.A1447V |
| LS411N_LARGE_INTESTINE | 144874390 | 144874575 | 144874565 | 144874565 | Missense_Mutation | C | T | p.A1447T |
| LS411N_LARGE_INTESTINE | 144874390 | 144874571 | 144874565 | 144874565 | Missense_Mutation | C | T | p.A1447T |
| FUOV1_OVARY | 144874878 | 144875037 | 144874956 | 144874956 | Missense_Mutation | C | T | p.V1367M |
| NCIH2110_LUNG | 144874878 | 144875037 | 144874981 | 144874981 | Missense_Mutation | C | A | p.Q1358H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144874878 | 144875037 | 144875030 | 144875030 | Missense_Mutation | G | A | p.T1342M |
| SAOS2_BONE | 144875146 | 144875253 | 144875156 | 144875156 | Missense_Mutation | G | T | p.A1336D |
| SNU1_STOMACH | 144875146 | 144875253 | 144875156 | 144875156 | Missense_Mutation | G | A | p.A1336V |
| NCIH2228_LUNG | 144875146 | 144875253 | 144875187 | 144875187 | Missense_Mutation | C | G | p.A1326P |
| HCC1395_BREAST | 144875146 | 144875253 | 144875243 | 144875243 | Missense_Mutation | G | A | p.P1307L |
| HEC108_ENDOMETRIUM | 144875146 | 144875253 | 144875243 | 144875243 | Missense_Mutation | G | A | p.P1307L |
| HEC6_ENDOMETRIUM | 144875146 | 144875253 | 144875243 | 144875243 | Missense_Mutation | G | A | p.P1307L |
| HCC1395_BREAST | 144877590 | 144877700 | 144877600 | 144877600 | Missense_Mutation | C | T | p.G1235D |
| NCIH526_LUNG | 144885553 | 144885741 | 144885557 | 144885557 | Missense_Mutation | A | C | p.L1200R |
| SNU520_STOMACH | 144885553 | 144885741 | 144885564 | 144885564 | Missense_Mutation | C | T | p.A1198T |
| NCIH1915_LUNG | 144885553 | 144885741 | 144885566 | 144885566 | Missense_Mutation | T | A | p.D1197V |
| NCIH720_LUNG | 144885553 | 144885741 | 144885585 | 144885585 | Missense_Mutation | C | T | p.G1191S |
| OVCA433_OVARY | 144885553 | 144885741 | 144885612 | 144885612 | Missense_Mutation | C | T | p.D1182N |
| BPH1_PROSTATE | 144885553 | 144885741 | 144885687 | 144885687 | Missense_Mutation | G | C | p.L1157V |
| PC14_LUNG | 144885817 | 144886110 | 144885959 | 144885959 | Missense_Mutation | C | A | p.R1091M |
| SNUC2A_LARGE_INTESTINE | 144885817 | 144886110 | 144886032 | 144886032 | Missense_Mutation | G | A | p.R1067W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144885817 | 144886110 | 144886061 | 144886061 | Missense_Mutation | C | T | p.R1057H |
| IM95_STOMACH | 144885817 | 144886110 | 144886086 | 144886086 | Missense_Mutation | G | A | p.R1049C |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144885817 | 144886110 | 144886086 | 144886086 | Missense_Mutation | G | A | p.R1049C |
| HCC1569_BREAST | 144885817 | 144886110 | 144886101 | 144886101 | Missense_Mutation | G | A | p.R1044W |
| NCIH69_LUNG | 144885817 | 144886110 | 144886103 | 144886103 | Missense_Mutation | G | A | p.P1043L |
| TK10_KIDNEY | 144885817 | 144886110 | 144886103 | 144886103 | Missense_Mutation | G | A | p.P1043L |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 144886738 | 144886995 | 144886746 | 144886746 | Missense_Mutation | G | T | p.P1001T |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 144886738 | 144886995 | 144886799 | 144886799 | Missense_Mutation | C | A | p.G983V |
| SNU1_STOMACH | 144886738 | 144886995 | 144886832 | 144886832 | Missense_Mutation | G | C | p.T972S |
| IALM_LUNG | 144886738 | 144886995 | 144886862 | 144886862 | Missense_Mutation | G | A | p.S962F |
| 639V_URINARY_TRACT | 144886738 | 144886995 | 144886928 | 144886928 | Missense_Mutation | G | A | p.P940L |
| HS895T_FIBROBLAST | 144886738 | 144886995 | 144886970 | 144886970 | Missense_Mutation | G | T | p.A926D |
| HEC6_ENDOMETRIUM | 144887282 | 144887605 | 144887326 | 144887326 | Missense_Mutation | T | C | p.I876V |
| HT3_CERVIX | 144887282 | 144887605 | 144887343 | 144887343 | Missense_Mutation | C | T | p.R870K |
| SW48_LARGE_INTESTINE | 144887282 | 144887605 | 144887353 | 144887353 | Missense_Mutation | G | A | p.R867C |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144887282 | 144887605 | 144887403 | 144887403 | Missense_Mutation | G | A | p.P850L |
| MCC13_SKIN | 144887282 | 144887605 | 144887442 | 144887442 | Missense_Mutation | C | A | p.R837L |
| SNU520_STOMACH | 144887282 | 144887605 | 144887467 | 144887467 | Missense_Mutation | G | A | p.R829W |
| HCC1395_BREAST | 144887282 | 144887605 | 144887484 | 144887484 | Missense_Mutation | A | C | p.V823G |
| C10_LARGE_INTESTINE | 144887282 | 144887605 | 144887500 | 144887500 | Missense_Mutation | C | T | p.E818K |
| KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144887282 | 144887605 | 144887563 | 144887563 | Missense_Mutation | C | T | p.V797M |
| SF126_CENTRAL_NERVOUS_SYSTEM | 144888577 | 144888654 | 144888600 | 144888600 | Missense_Mutation | G | A | p.R775C |
| UWB1289_OVARY | 144888577 | 144888654 | 144888614 | 144888614 | Missense_Mutation | G | T | p.A770D |
| SNU407_LARGE_INTESTINE | 144889094 | 144889183 | 144889131 | 144889131 | Missense_Mutation | C | T | p.G744D |
| CCK81_LARGE_INTESTINE | 144889094 | 144889183 | 144889138 | 144889138 | Missense_Mutation | T | C | p.I742V |
| OC316_OVARY | 144890779 | 144891195 | 144890895 | 144890895 | Missense_Mutation | C | T | p.G667S |
| RKO_LARGE_INTESTINE | 144890779 | 144891195 | 144890895 | 144890895 | Missense_Mutation | C | A | p.G667C |
| OC314_OVARY | 144890779 | 144891195 | 144890895 | 144890895 | Missense_Mutation | C | T | p.G667S |
| LB831BLC_URINARY_TRACT | 144890779 | 144891195 | 144890928 | 144890928 | Missense_Mutation | G | A | p.R656W |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144890779 | 144891195 | 144890948 | 144890948 | Missense_Mutation | G | A | p.P649L |
| SW982_SOFT_TISSUE | 144890779 | 144891195 | 144891004 | 144891004 | Missense_Mutation | C | A | p.Q630H |
| SKLU1_LUNG | 144890779 | 144891195 | 144891035 | 144891035 | Missense_Mutation | G | T | p.P620H |
| JHUEM7_ENDOMETRIUM | 144890779 | 144891195 | 144891084 | 144891084 | Missense_Mutation | G | A | p.R604C |
| SBC5_LUNG | 144890779 | 144891195 | 144891108 | 144891108 | Missense_Mutation | G | A | p.P596S |
| SNU1040_LARGE_INTESTINE | 144890779 | 144891195 | 144891180 | 144891180 | Missense_Mutation | C | T | p.A572T |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144890779 | 144891195 | 144891188 | 144891188 | Missense_Mutation | A | G | p.V569A |
| HCT116_LARGE_INTESTINE | 144895200 | 144895274 | 144895207 | 144895207 | Missense_Mutation | A | G | p.L212P |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144895988 | 144896066 | 144896004 | 144896004 | Missense_Mutation | C | G | p.G114R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144895988 | 144896066 | 144896060 | 144896060 | Missense_Mutation | G | T | p.P95H |
| SNU1040_LARGE_INTESTINE | 144887282 | 144887605 | 144887524 | 144887524 | Nonsense_Mutation | G | A | p.R810* |
| HEC59_ENDOMETRIUM | 144895200 | 144895274 | 144895233 | 144895233 | Nonsense_Mutation | C | T | p.W203* |
| 22RV1_PROSTATE | 144875146 | 144875253 | 144875146 | 144875146 | Splice_Site | C | A | p.Q1339H |
| HCT15_LARGE_INTESTINE | 144888577 | 144888654 | 144888653 | 144888653 | Splice_Site | C | T | p.G757D |
| SCC9_UPPER_AERODIGESTIVE_TRACT | 144895200 | 144895274 | 144895131 | 144895198 | Splice_Site | CCTGCAGGTGGGCAGAGAGTCAGAGCGCGGATGGGCACGAAGCAGGGGGCCAGCCCCACCCTGACTCA | - | p.*215fs |
| NCIBL2009_MATCHED_NORMAL_TISSUE | 144895200 | 144895274 | 144895200 | 144895200 | Splice_Site | C | T | p.P214P |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144895200 | 144895274 | 144895201 | 144895201 | Splice_Site | G | A | p.P214L |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 144896171 | 144896288 | 144896172 | 144896172 | Splice_Site | G | A | p.N92N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SCRIB |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SCRIB |
 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SCRIB |
Top |
RelatedDrugs for SCRIB |
| 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 |
Top |
RelatedDiseases for SCRIB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SCRIB | C3891448 | NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | 1 | UNIPROT |
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