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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 SPOPL |
 Gene summary |
| Gene information | Gene symbol | SPOPL | Gene ID | 339745 |
| Gene name | speckle type BTB/POZ protein like | |
| Synonyms | BTBD33 | |
| Cytomap | 2q22.1 | |
| Type of gene | protein-coding | |
| Description | speckle-type POZ protein-likeHIB homolog 2roadkill homolog 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6IQ16 | |
| Context | PubMed: SPOPL [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 SPOPL 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 SPOPL |
| 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 SPOPL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_330082 | 2 | 139259501:139259689:139307726:139307864:139308052:139308174 | 139307726:139307864 | ENSG00000144228.4 | ENST00000430968.1 |
| exon_skip_330086 | 2 | 139307726:139307864:139308052:139308174:139308472:139308624 | 139308052:139308174 | ENSG00000144228.4 | ENST00000420679.1,ENST00000280098.4 |
| exon_skip_330087 | 2 | 139307726:139307864:139308052:139308174:139308543:139308624 | 139308052:139308174 | ENSG00000144228.4 | ENST00000430968.1 |
| exon_skip_330090 | 2 | 139308543:139308624:139310123:139310251:139316591:139316769 | 139310123:139310251 | ENSG00000144228.4 | ENST00000280098.4 |
| exon_skip_330093 | 2 | 139310127:139310251:139312008:139312105:139316591:139316682 | 139312008:139312105 | ENSG00000144228.4 | ENST00000420679.1 |
| exon_skip_330097 | 2 | 139322277:139322420:139322509:139322563:139326505:139326700 | 139322509:139322563 | ENSG00000144228.4 | ENST00000420679.1,ENST00000280098.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPOPL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_330082 | 2 | 139259501:139259689:139307726:139307864:139308052:139308174 | 139307726:139307864 | ENSG00000144228.4 | ENST00000430968.1 |
| exon_skip_330086 | 2 | 139307726:139307864:139308052:139308174:139308472:139308624 | 139308052:139308174 | ENSG00000144228.4 | ENST00000280098.4,ENST00000420679.1 |
| exon_skip_330087 | 2 | 139307726:139307864:139308052:139308174:139308543:139308624 | 139308052:139308174 | ENSG00000144228.4 | ENST00000430968.1 |
| exon_skip_330090 | 2 | 139308543:139308624:139310123:139310251:139316591:139316769 | 139310123:139310251 | ENSG00000144228.4 | ENST00000280098.4 |
| exon_skip_330093 | 2 | 139310127:139310251:139312008:139312105:139316591:139316682 | 139312008:139312105 | ENSG00000144228.4 | ENST00000420679.1 |
| exon_skip_330097 | 2 | 139322277:139322420:139322509:139322563:139326505:139326700 | 139322509:139322563 | ENSG00000144228.4 | ENST00000280098.4,ENST00000420679.1 |
| 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 SPOPL |
| 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 |
| ENST00000280098 | 139308052 | 139308174 | Frame-shift |
| ENST00000280098 | 139310123 | 139310251 | Frame-shift |
| ENST00000280098 | 139322509 | 139322563 | 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 |
| ENST00000280098 | 139308052 | 139308174 | Frame-shift |
| ENST00000280098 | 139310123 | 139310251 | Frame-shift |
| ENST00000280098 | 139322509 | 139322563 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPOPL |
| 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 |
| ENST00000280098 | 6042 | 392 | 139322509 | 139322563 | 1360 | 1413 | 327 | 344 |
| 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 |
| ENST00000280098 | 6042 | 392 | 139322509 | 139322563 | 1360 | 1413 | 327 | 344 |
| 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 |
| Q6IQ16 | 327 | 344 | 1 | 392 | Chain | ID=PRO_0000274588;Note=Speckle-type POZ protein-like |
| 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 |
| Q6IQ16 | 327 | 344 | 1 | 392 | Chain | ID=PRO_0000274588;Note=Speckle-type POZ protein-like |
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SNVs in the skipped exons for SPOPL |
| - 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. |
| - 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-A1EG-01 | exon_skip_330087 exon_skip_330086 | 139308053 | 139308174 | 139308068 | 139308068 | Frame_Shift_Del | T | - | p.F32fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330087 exon_skip_330086 | 139308053 | 139308174 | 139308092 | 139308092 | Frame_Shift_Del | A | - | p.N40fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330090 | 139310124 | 139310251 | 139310171 | 139310171 | Frame_Shift_Del | A | - | p.K135fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_330090 | 139310124 | 139310251 | 139310171 | 139310171 | Frame_Shift_Del | A | - | p.K135fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330090 | 139310124 | 139310251 | 139310171 | 139310171 | Frame_Shift_Del | A | - | p.K135fs |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_330087 exon_skip_330086 | 139308053 | 139308174 | 139308107 | 139308107 | Nonsense_Mutation | C | T | p.R45* |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_330087 exon_skip_330086 | 139308053 | 139308174 | 139308107 | 139308107 | Nonsense_Mutation | C | T | p.R45X |
| COAD | TCGA-AZ-4315-01 | exon_skip_330090 | 139310124 | 139310251 | 139310141 | 139310141 | Nonsense_Mutation | C | T | p.R124X |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_330090 | 139310124 | 139310251 | 139310141 | 139310141 | Nonsense_Mutation | C | T | p.R124* |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_330090 | 139310124 | 139310251 | 139310141 | 139310141 | Nonsense_Mutation | C | T | p.R124* |
| LUSC | TCGA-37-5819-01 | exon_skip_330090 | 139310124 | 139310251 | 139310249 | 139310249 | Nonsense_Mutation | G | T | p.E160* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 139310124 | 139310251 | 139310220 | 139310221 | Frame_Shift_Del | TA | - | p.L150fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 139310124 | 139310251 | 139310217 | 139310218 | Frame_Shift_Ins | - | CC | p.LL149fs |
| CW2_LARGE_INTESTINE | 139307727 | 139307864 | 139307803 | 139307803 | Missense_Mutation | C | T | p.T6I |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 139307727 | 139307864 | 139307862 | 139307862 | Missense_Mutation | C | G | p.Q26E |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139308053 | 139308174 | 139308108 | 139308108 | Missense_Mutation | G | A | p.R45Q |
| NCIH889_LUNG | 139308053 | 139308174 | 139308120 | 139308120 | Missense_Mutation | G | A | p.G49D |
| SCABER_URINARY_TRACT | 139308053 | 139308174 | 139308155 | 139308155 | Missense_Mutation | C | G | p.P61A |
| SNU1105_CENTRAL_NERVOUS_SYSTEM | 139310124 | 139310251 | 139310130 | 139310130 | Missense_Mutation | A | G | p.Q120R |
| IALM_LUNG | 139322510 | 139322563 | 139322524 | 139322524 | Missense_Mutation | G | T | p.R332L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 139322510 | 139322563 | 139322560 | 139322560 | Missense_Mutation | G | A | p.S344N |
| S117_SOFT_TISSUE | 139322510 | 139322563 | 139322560 | 139322560 | Missense_Mutation | G | A | p.S344N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPOPL |
| 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 SPOPL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPOPL |
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RelatedDrugs for SPOPL |
| 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 SPOPL |
| 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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