|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for SPI1 |
 Gene summary |
| Gene information | Gene symbol | SPI1 | Gene ID | 6688 |
| Gene name | Spi-1 proto-oncogene | |
| Synonyms | OF|PU.1|SFPI1|SPI-1|SPI-A | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | transcription factor PU.131 kDa transforming proteinhematopoietic transcription factor PU.1spleen focus forming virus (SFFV) proviral integration oncogene spi1 | |
| Modification date | 20180527 | |
| UniProtAcc | P17947 | |
| Context | PubMed: SPI1 [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 |
| SPI1 | GO:0044027 | hypermethylation of CpG island | 20139074 |
| SPI1 | GO:0045814 | negative regulation of gene expression, epigenetic | 20139074 |
| SPI1 | GO:0045892 | negative regulation of transcription, DNA-templated | 20139074 |
| SPI1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12833137 |
| SPI1 | GO:0061614 | pri-miRNA transcription by RNA polymerase II | 20972335 |
Top |
Exon skipping events across known transcript of Ensembl for SPI1 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. |
 |
Top |
Gene isoform structures and expression levels for SPI1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SPI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70814 | 11 | 47376651:47377097:47380394:47380557:47381403:47381591 | 47380394:47380557 | ENSG00000066336.7 | ENST00000378538.3,ENST00000227163.4 |
| exon_skip_70820 | 11 | 47380394:47380557:47381403:47381591:47397183:47397280 | 47381403:47381591 | ENSG00000066336.7 | ENST00000533968.1,ENST00000378538.3,ENST00000227163.4 |
| exon_skip_70821 | 11 | 47381403:47381591:47397183:47397280:47399859:47399942 | 47397183:47397280 | ENSG00000066336.7 | ENST00000533968.1 |
| exon_skip_70822 | 11 | 47381403:47381591:47397183:47397283:47399859:47399942 | 47397183:47397283 | ENSG00000066336.7 | ENST00000227163.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SPI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70814 | 11 | 47376651:47377097:47380394:47380557:47381403:47381591 | 47380394:47380557 | ENSG00000066336.7 | ENST00000378538.3,ENST00000227163.4 |
| exon_skip_70820 | 11 | 47380394:47380557:47381403:47381591:47397183:47397280 | 47381403:47381591 | ENSG00000066336.7 | ENST00000378538.3,ENST00000227163.4,ENST00000533968.1 |
| exon_skip_70821 | 11 | 47381403:47381591:47397183:47397280:47399859:47399942 | 47397183:47397280 | ENSG00000066336.7 | ENST00000533968.1 |
| exon_skip_70822 | 11 | 47381403:47381591:47397183:47397283:47399859:47399942 | 47397183:47397283 | ENSG00000066336.7 | ENST00000227163.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SPI1 |
| 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 |
| ENST00000378538 | 47380394 | 47380557 | Frame-shift |
| ENST00000378538 | 47381403 | 47381591 | Frame-shift |
| 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 |
| ENST00000378538 | 47380394 | 47380557 | Frame-shift |
| ENST00000378538 | 47381403 | 47381591 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for SPI1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
Top |
SNVs in the skipped exons for SPI1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-A39Y-01 | exon_skip_70814 | 47380395 | 47380557 | 47380511 | 47380511 | Frame_Shift_Del | G | - | p.P126fs |
| SKCM | TCGA-EE-A20C-06 | exon_skip_70814 | 47380395 | 47380557 | 47380542 | 47380542 | Frame_Shift_Del | G | - | p.R116fs |
| SKCM | TCGA-BF-AAP2-01 | exon_skip_70821 | 47397184 | 47397280 | 47397241 | 47397241 | Nonsense_Mutation | G | A | p.Q29* |
| SKCM | TCGA-BF-AAP2-01 | exon_skip_70822 | 47397184 | 47397283 | 47397241 | 47397241 | Nonsense_Mutation | G | A | p.Q29* |
| - 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 |
| HEC151_ENDOMETRIUM | 47380395 | 47380557 | 47380463 | 47380463 | Frame_Shift_Del | G | - | p.P142fs |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47380395 | 47380557 | 47380440 | 47380440 | Missense_Mutation | C | T | p.A150T |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47380395 | 47380557 | 47380443 | 47380443 | Missense_Mutation | C | T | p.E149K |
| NCIH1770_LUNG | 47380395 | 47380557 | 47380466 | 47380466 | Missense_Mutation | G | A | p.P141L |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47380395 | 47380557 | 47380491 | 47380491 | Missense_Mutation | C | T | p.E133K |
| SKHEP1_LIVER | 47380395 | 47380557 | 47380499 | 47380499 | Missense_Mutation | C | T | p.S130N |
| SNU175_LARGE_INTESTINE | 47380395 | 47380557 | 47380515 | 47380515 | Missense_Mutation | A | G | p.S125P |
| SNU1040_LARGE_INTESTINE | 47380395 | 47380557 | 47380524 | 47380524 | Missense_Mutation | G | A | p.P122S |
| LMSU_STOMACH | 47380395 | 47380557 | 47380536 | 47380536 | Missense_Mutation | A | C | p.C118G |
| OVK18_OVARY | 47380395 | 47380557 | 47380551 | 47380551 | Missense_Mutation | A | G | p.Y113H |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47397184 | 47397280 | 47397231 | 47397231 | Missense_Mutation | G | A | p.T32M |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47397184 | 47397283 | 47397231 | 47397231 | Missense_Mutation | G | A | p.T32M |
| SKMEL1_SKIN | 47397184 | 47397280 | 47397231 | 47397231 | Missense_Mutation | G | A | p.T32M |
| SKMEL1_SKIN | 47397184 | 47397283 | 47397231 | 47397231 | Missense_Mutation | G | A | p.T32M |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47397184 | 47397280 | 47397237 | 47397237 | Missense_Mutation | C | T | p.R30H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47397184 | 47397283 | 47397237 | 47397237 | Missense_Mutation | C | T | p.R30H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPI1 |
| 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 SPI1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPI1 |
Top |
RelatedDrugs for SPI1 |
| 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 SPI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SPI1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| SPI1 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|