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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 IPO8 |
 Gene summary |
| Gene information | Gene symbol | IPO8 | Gene ID | 10526 |
| Gene name | importin 8 | |
| Synonyms | RANBP8 | |
| Cytomap | 12p11.21 | |
| Type of gene | protein-coding | |
| Description | importin-8RAN binding protein 8imp8ran-binding protein 8 | |
| Modification date | 20180523 | |
| UniProtAcc | O15397 | |
| Context | PubMed: IPO8 [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 IPO8 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 IPO8 |
| 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 IPO8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90919 | 12 | 30783405:30783891:30784828:30784945:30787016:30787220 | 30784828:30784945 | ENSG00000133704.5 | ENST00000544829.1,ENST00000256079.4 |
| exon_skip_90920 | 12 | 30784828:30784945:30787016:30787220:30789915:30790083 | 30787016:30787220 | ENSG00000133704.5 | ENST00000544829.1,ENST00000535598.1,ENST00000256079.4 |
| exon_skip_90923 | 12 | 30789915:30790121:30792448:30792669:30802070:30802166 | 30792448:30792669 | ENSG00000133704.5 | ENST00000544829.1,ENST00000256079.4 |
| exon_skip_90925 | 12 | 30814074:30814200:30815260:30815421:30816422:30816588 | 30815260:30815421 | ENSG00000133704.5 | ENST00000544829.1,ENST00000256079.4 |
| exon_skip_90926 | 12 | 30822201:30822216:30823895:30824030:30826923:30827008 | 30823895:30824030 | ENSG00000133704.5 | ENST00000544829.1,ENST00000542464.1,ENST00000256079.4 |
| exon_skip_90928 | 12 | 30833455:30833572:30834592:30834751:30837234:30837391 | 30834592:30834751 | ENSG00000133704.5 | ENST00000535989.1,ENST00000540979.1,ENST00000256079.4 |
| exon_skip_90932 | 12 | 30837368:30837391:30843429:30843482:30848497:30848803 | 30843429:30843482 | ENSG00000133704.5 | ENST00000540979.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IPO8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90919 | 12 | 30783405:30783891:30784828:30784945:30787016:30787220 | 30784828:30784945 | ENSG00000133704.5 | ENST00000256079.4,ENST00000544829.1 |
| exon_skip_90920 | 12 | 30784828:30784945:30787016:30787220:30789915:30790083 | 30787016:30787220 | ENSG00000133704.5 | ENST00000256079.4,ENST00000544829.1,ENST00000535598.1 |
| exon_skip_90923 | 12 | 30789915:30790121:30792448:30792669:30802070:30802166 | 30792448:30792669 | ENSG00000133704.5 | ENST00000256079.4,ENST00000544829.1 |
| exon_skip_90925 | 12 | 30814074:30814200:30815260:30815421:30816422:30816588 | 30815260:30815421 | ENSG00000133704.5 | ENST00000256079.4,ENST00000544829.1 |
| exon_skip_90926 | 12 | 30822201:30822216:30823895:30824030:30826923:30827008 | 30823895:30824030 | ENSG00000133704.5 | ENST00000256079.4,ENST00000544829.1,ENST00000542464.1 |
| exon_skip_90928 | 12 | 30833455:30833572:30834592:30834751:30837234:30837391 | 30834592:30834751 | ENSG00000133704.5 | ENST00000256079.4,ENST00000535989.1,ENST00000540979.1 |
| exon_skip_90932 | 12 | 30837368:30837391:30843429:30843482:30848497:30848803 | 30843429:30843482 | ENSG00000133704.5 | ENST00000540979.1 |
| 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 IPO8 |
| 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 |
| ENST00000256079 | 30792448 | 30792669 | Frame-shift |
| ENST00000256079 | 30815260 | 30815421 | Frame-shift |
| ENST00000256079 | 30784828 | 30784945 | In-frame |
| ENST00000256079 | 30787016 | 30787220 | In-frame |
| ENST00000256079 | 30823895 | 30824030 | In-frame |
| ENST00000256079 | 30834592 | 30834751 | 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 |
| ENST00000256079 | 30792448 | 30792669 | Frame-shift |
| ENST00000256079 | 30815260 | 30815421 | Frame-shift |
| ENST00000256079 | 30784828 | 30784945 | In-frame |
| ENST00000256079 | 30787016 | 30787220 | In-frame |
| ENST00000256079 | 30823895 | 30824030 | In-frame |
| ENST00000256079 | 30834592 | 30834751 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IPO8 |
| 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 |
| ENST00000256079 | 5342 | 1037 | 30834592 | 30834751 | 663 | 821 | 108 | 160 |
| ENST00000256079 | 5342 | 1037 | 30823895 | 30824030 | 1249 | 1383 | 303 | 348 |
| ENST00000256079 | 5342 | 1037 | 30787016 | 30787220 | 3035 | 3238 | 898 | 966 |
| ENST00000256079 | 5342 | 1037 | 30784828 | 30784945 | 3239 | 3355 | 966 | 1005 |
| 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 |
| ENST00000256079 | 5342 | 1037 | 30834592 | 30834751 | 663 | 821 | 108 | 160 |
| ENST00000256079 | 5342 | 1037 | 30823895 | 30824030 | 1249 | 1383 | 303 | 348 |
| ENST00000256079 | 5342 | 1037 | 30787016 | 30787220 | 3035 | 3238 | 898 | 966 |
| ENST00000256079 | 5342 | 1037 | 30784828 | 30784945 | 3239 | 3355 | 966 | 1005 |
| 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 |
| O15397 | 108 | 160 | 1 | 213 | Alternative sequence | ID=VSP_042574;Note=In isoform 2. MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQ->MESLTLK |
| O15397 | 108 | 160 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| O15397 | 303 | 348 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| O15397 | 898 | 966 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| O15397 | 898 | 966 | 923 | 928 | Compositional bias | Note=Poly-Glu |
| O15397 | 898 | 966 | 902 | 902 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692 |
| O15397 | 898 | 966 | 903 | 903 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692 |
| O15397 | 966 | 1005 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| 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 |
| O15397 | 108 | 160 | 1 | 213 | Alternative sequence | ID=VSP_042574;Note=In isoform 2. MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQ->MESLTLK |
| O15397 | 108 | 160 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| O15397 | 303 | 348 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| O15397 | 898 | 966 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
| O15397 | 898 | 966 | 923 | 928 | Compositional bias | Note=Poly-Glu |
| O15397 | 898 | 966 | 902 | 902 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692 |
| O15397 | 898 | 966 | 903 | 903 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692 |
| O15397 | 966 | 1005 | 1 | 1037 | Chain | ID=PRO_0000120752;Note=Importin-8 |
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SNVs in the skipped exons for IPO8 |
| - 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. |
IPO8_HNSC_exon_skip_90920_psi_boxplot.png |
IPO8_STAD_exon_skip_90928_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-G3-A3CJ-01 | exon_skip_90920 | 30787017 | 30787220 | 30787033 | 30787033 | Frame_Shift_Del | A | - | p.F961fs |
| HNSC | TCGA-DQ-7588-01 | exon_skip_90920 | 30787017 | 30787220 | 30787082 | 30787082 | Frame_Shift_Del | A | - | p.F945fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_90923 | 30792449 | 30792669 | 30792551 | 30792551 | Frame_Shift_Del | A | - | p.L798fs |
| HNSC | TCGA-F7-A61S-01 | exon_skip_90925 | 30815261 | 30815421 | 30815384 | 30815385 | Frame_Shift_Ins | - | A | p.T544fs |
| LUAD | TCGA-17-Z026-01 | exon_skip_90920 | 30787017 | 30787220 | 30787166 | 30787166 | Nonsense_Mutation | G | C | p.S917* |
| BLCA | TCGA-XF-A9SJ-01 | exon_skip_90923 | 30792449 | 30792669 | 30792627 | 30792627 | Nonsense_Mutation | G | A | p.R771* |
| STAD | TCGA-HU-A4H5-01 | exon_skip_90928 | 30834593 | 30834751 | 30834694 | 30834694 | Nonsense_Mutation | C | T | p.W127* |
| STAD | TCGA-HU-A4H5-01 | exon_skip_90928 | 30834593 | 30834751 | 30834694 | 30834694 | Nonsense_Mutation | C | T | p.W127X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HU-A4H5-01 |
| Cancer type: STAD | |
| ESID: exon_skip_90928 | |
| Skipped exon start: 30834593 | |
| Skipped exon end: 30834751 | |
| Mutation start: 30834694 | |
| Mutation end: 30834694 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W127X | |
| Sample: TCGA-HU-A4H5-01 |
| Cancer type: STAD | |
| ESID: exon_skip_90928 | |
| Skipped exon start: 30834593 | |
| Skipped exon end: 30834751 | |
| Mutation start: 30834694 | |
| Mutation end: 30834694 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W127* | |
exon_skip_90928_STAD_TCGA-HU-A4H5-01.png | |
 | Sample: TCGA-DQ-7588-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_90920 | |
| Skipped exon start: 30787017 | |
| Skipped exon end: 30787220 | |
| Mutation start: 30787082 | |
| Mutation end: 30787082 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.F945fs | |
exon_skip_90920_HNSC_TCGA-DQ-7588-01.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 |
| OVMIU_OVARY | 30784829 | 30784945 | 30784841 | 30784841 | Missense_Mutation | G | A | p.R1002W |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30784829 | 30784945 | 30784892 | 30784892 | Missense_Mutation | C | T | p.E985K |
| SNU1040_LARGE_INTESTINE | 30787017 | 30787220 | 30787020 | 30787020 | Missense_Mutation | T | C | p.I966V |
| SNU1040_LARGE_INTESTINE | 30787017 | 30787220 | 30787187 | 30787187 | Missense_Mutation | A | G | p.V910A |
| SW837_LARGE_INTESTINE | 30792449 | 30792669 | 30792497 | 30792497 | Missense_Mutation | G | A | p.T814I |
| HT29_LARGE_INTESTINE | 30792449 | 30792669 | 30792516 | 30792516 | Missense_Mutation | G | C | p.H808D |
| HCC2998_LARGE_INTESTINE | 30792449 | 30792669 | 30792530 | 30792530 | Missense_Mutation | C | T | p.R803Q |
| VAESBJ_SOFT_TISSUE | 30792449 | 30792669 | 30792621 | 30792621 | Missense_Mutation | C | T | p.V773I |
| HEC108_ENDOMETRIUM | 30815261 | 30815421 | 30815295 | 30815295 | Missense_Mutation | A | G | p.V574A |
| HGC27_STOMACH | 30823896 | 30824030 | 30823973 | 30823973 | Missense_Mutation | G | C | p.L323V |
| SU8686_PANCREAS | 30823896 | 30824030 | 30823978 | 30823978 | Missense_Mutation | C | T | p.R321H |
| OC316_OVARY | 30834593 | 30834751 | 30834641 | 30834641 | Missense_Mutation | C | T | p.S145N |
| OC314_OVARY | 30834593 | 30834751 | 30834641 | 30834641 | Missense_Mutation | C | T | p.S145N |
| KPNYS_AUTONOMIC_GANGLIA | 30784829 | 30784945 | 30784917 | 30784917 | Nonsense_Mutation | G | C | p.Y976* |
| NCIH23_LUNG | 30815261 | 30815421 | 30815306 | 30815306 | Nonsense_Mutation | G | T | p.Y570* |
| HCC1500_BREAST | 30843430 | 30843482 | 30843439 | 30843439 | Nonsense_Mutation | G | A | p.R53* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IPO8 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IPO8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IPO8 |
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RelatedDrugs for IPO8 |
| 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 IPO8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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