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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 GULP1 |
 Gene summary |
| Gene information | Gene symbol | GULP1 | Gene ID | 51454 |
| Gene name | GULP, engulfment adaptor PTB domain containing 1 | |
| Synonyms | CED-6|CED6|GULP | |
| Cytomap | 2q32.1-q32.2 | |
| Type of gene | protein-coding | |
| Description | PTB domain-containing engulfment adapter protein 1PTB domain adapter protein CED-6PTB domain adaptor protein CED-6cell death protein 6 homologengulfment adapter protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UBP9 | |
| Context | PubMed: GULP1 [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 |
| GULP1 | GO:0006911 | phagocytosis, engulfment | 11729193 |
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Exon skipping events across known transcript of Ensembl for GULP1 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 GULP1 |
| 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 GULP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_331628 | 2 | 189156766:189156893:189248489:189248616:189342385:189342457 | 189248489:189248616 | ENSG00000144366.11 | ENST00000409805.1,ENST00000410051.1,ENST00000409830.1 |
| exon_skip_331636 | 2 | 189157565:189157839:189248489:189248616:189342385:189342457 | 189248489:189248616 | ENSG00000144366.11 | ENST00000359135.3,ENST00000409637.3 |
| exon_skip_331640 | 2 | 189157558:189157907:189158926:189159120:189248489:189248616 | 189158926:189159120 | ENSG00000144366.11 | ENST00000409580.1 |
| exon_skip_331644 | 2 | 189248518:189248616:189331201:189331295:189342385:189342457 | 189331201:189331295 | ENSG00000144366.11 | ENST00000479019.1 |
| exon_skip_331646 | 2 | 189348157:189348219:189356162:189356321:189387482:189387554 | 189356162:189356321 | ENSG00000144366.11 | ENST00000479019.1 |
| exon_skip_331648 | 2 | 189348157:189348219:189387482:189387554:189393823:189393867 | 189387482:189387554 | ENSG00000144366.11 | ENST00000409843.1,ENST00000409927.1,ENST00000410051.1,ENST00000409580.1,ENST00000409609.1,ENST00000359135.3,ENST00000409637.3,ENST00000409830.1 |
| exon_skip_331656 | 2 | 189393898:189393922:189405907:189406045:189433965:189434082 | 189405907:189406045 | ENSG00000144366.11 | ENST00000476422.1,ENST00000409843.1,ENST00000409580.1,ENST00000409609.1,ENST00000359135.3,ENST00000409830.1,ENST00000495745.1 |
| exon_skip_331660 | 2 | 189434809:189434847:189447067:189447292:189448991:189449036 | 189447067:189447292 | ENSG00000144366.11 | ENST00000433052.1 |
| exon_skip_331664 | 2 | 189452581:189452676:189454466:189454477:189458666:189458738 | 189454466:189454477 | ENSG00000144366.11 | ENST00000409843.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GULP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_331628 | 2 | 189156766:189156893:189248489:189248616:189342385:189342457 | 189248489:189248616 | ENSG00000144366.11 | ENST00000409830.1,ENST00000410051.1,ENST00000409805.1 |
| exon_skip_331636 | 2 | 189157565:189157839:189248489:189248616:189342385:189342457 | 189248489:189248616 | ENSG00000144366.11 | ENST00000359135.3,ENST00000409637.3 |
| exon_skip_331644 | 2 | 189248518:189248616:189331201:189331295:189342385:189342457 | 189331201:189331295 | ENSG00000144366.11 | ENST00000479019.1 |
| exon_skip_331646 | 2 | 189348157:189348219:189356162:189356321:189387482:189387554 | 189356162:189356321 | ENSG00000144366.11 | ENST00000479019.1 |
| exon_skip_331648 | 2 | 189348157:189348219:189387482:189387554:189393823:189393867 | 189387482:189387554 | ENSG00000144366.11 | ENST00000409843.1,ENST00000409830.1,ENST00000410051.1,ENST00000409927.1,ENST00000359135.3,ENST00000409580.1,ENST00000409637.3,ENST00000409609.1 |
| exon_skip_331656 | 2 | 189393898:189393922:189405907:189406045:189433965:189434082 | 189405907:189406045 | ENSG00000144366.11 | ENST00000409843.1,ENST00000409830.1,ENST00000359135.3,ENST00000409580.1,ENST00000409609.1,ENST00000476422.1,ENST00000495745.1 |
| exon_skip_331660 | 2 | 189434809:189434847:189447067:189447292:189448991:189449036 | 189447067:189447292 | ENSG00000144366.11 | ENST00000433052.1 |
| exon_skip_331664 | 2 | 189452581:189452676:189454466:189454477:189458666:189458738 | 189454466:189454477 | ENSG00000144366.11 | ENST00000409843.1 |
| 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 GULP1 |
| 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 |
| ENST00000409580 | 189158926 | 189159120 | 5UTR-5UTR |
| ENST00000359135 | 189248489 | 189248616 | 5UTR-5UTR |
| ENST00000409830 | 189248489 | 189248616 | 5UTR-5UTR |
| ENST00000359135 | 189387482 | 189387554 | In-frame |
| ENST00000409580 | 189387482 | 189387554 | In-frame |
| ENST00000409609 | 189387482 | 189387554 | In-frame |
| ENST00000409830 | 189387482 | 189387554 | In-frame |
| ENST00000359135 | 189405907 | 189406045 | In-frame |
| ENST00000409580 | 189405907 | 189406045 | In-frame |
| ENST00000409609 | 189405907 | 189406045 | In-frame |
| ENST00000409830 | 189405907 | 189406045 | 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 |
| ENST00000359135 | 189248489 | 189248616 | 5UTR-5UTR |
| ENST00000409830 | 189248489 | 189248616 | 5UTR-5UTR |
| ENST00000359135 | 189387482 | 189387554 | In-frame |
| ENST00000409580 | 189387482 | 189387554 | In-frame |
| ENST00000409609 | 189387482 | 189387554 | In-frame |
| ENST00000409830 | 189387482 | 189387554 | In-frame |
| ENST00000359135 | 189405907 | 189406045 | In-frame |
| ENST00000409580 | 189405907 | 189406045 | In-frame |
| ENST00000409609 | 189405907 | 189406045 | In-frame |
| ENST00000409830 | 189405907 | 189406045 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GULP1 |
| 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 |
| ENST00000359135 | 3359 | 304 | 189387482 | 189387554 | 603 | 674 | 30 | 54 |
| ENST00000409580 | 3561 | 304 | 189387482 | 189387554 | 805 | 876 | 30 | 54 |
| ENST00000409609 | 1949 | 304 | 189387482 | 189387554 | 838 | 909 | 30 | 54 |
| ENST00000409830 | 1393 | 304 | 189387482 | 189387554 | 552 | 623 | 30 | 54 |
| ENST00000359135 | 3359 | 304 | 189405907 | 189406045 | 774 | 911 | 87 | 133 |
| ENST00000409580 | 3561 | 304 | 189405907 | 189406045 | 976 | 1113 | 87 | 133 |
| ENST00000409609 | 1949 | 304 | 189405907 | 189406045 | 1009 | 1146 | 87 | 133 |
| ENST00000409830 | 1393 | 304 | 189405907 | 189406045 | 723 | 860 | 87 | 133 |
| 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 |
| ENST00000359135 | 3359 | 304 | 189387482 | 189387554 | 603 | 674 | 30 | 54 |
| ENST00000409580 | 3561 | 304 | 189387482 | 189387554 | 805 | 876 | 30 | 54 |
| ENST00000409609 | 1949 | 304 | 189387482 | 189387554 | 838 | 909 | 30 | 54 |
| ENST00000409830 | 1393 | 304 | 189387482 | 189387554 | 552 | 623 | 30 | 54 |
| ENST00000359135 | 3359 | 304 | 189405907 | 189406045 | 774 | 911 | 87 | 133 |
| ENST00000409580 | 3561 | 304 | 189405907 | 189406045 | 976 | 1113 | 87 | 133 |
| ENST00000409609 | 1949 | 304 | 189405907 | 189406045 | 1009 | 1146 | 87 | 133 |
| ENST00000409830 | 1393 | 304 | 189405907 | 189406045 | 723 | 860 | 87 | 133 |
| 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 GULP1 |
| - 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-G3-A3CJ-01 | exon_skip_331656 | 189405908 | 189406045 | 189405943 | 189405943 | Frame_Shift_Del | T | - | p.S99fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_331656 | 189405908 | 189406045 | 189406038 | 189406038 | Frame_Shift_Del | A | - | p.E131fs |
| HNSC | TCGA-CN-A498-01 | exon_skip_331648 | 189387483 | 189387554 | 189387546 | 189387546 | Nonsense_Mutation | A | T | p.K52* |
| - 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 |
| SW684_SOFT_TISSUE | 189387483 | 189387554 | 189387492 | 189387492 | Missense_Mutation | A | T | p.S34C |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 189387483 | 189387554 | 189387532 | 189387532 | Missense_Mutation | G | A | p.R47K |
| EN_ENDOMETRIUM | 189387483 | 189387554 | 189387548 | 189387548 | Missense_Mutation | A | T | p.K52N |
| BT474_BREAST | 189405908 | 189406045 | 189405995 | 189405995 | Missense_Mutation | G | C | p.D117H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 189405908 | 189406045 | 189406023 | 189406023 | Missense_Mutation | A | T | p.Y126F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 189405908 | 189406045 | 189406023 | 189406023 | Missense_Mutation | A | T | p.Y126F |
| S117_SOFT_TISSUE | 189405908 | 189406045 | 189406023 | 189406023 | Missense_Mutation | A | T | p.Y126F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GULP1 |
| 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_331640 | 2 | 189157558:189157907:189158926:189159120:189248489:189248616 | 189158926:189159120 | ENST00000409580.1 | KIRC | rs7575702 | chr2:189159003 | G/A | 6.05e-06 |
| exon_skip_331640 | 2 | 189157558:189157907:189158926:189159120:189248489:189248616 | 189158926:189159120 | ENST00000409580.1 | LUSC | rs7575702 | chr2:189159003 | G/A | 7.40e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GULP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GULP1 |
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RelatedDrugs for GULP1 |
| 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 GULP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GULP1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| GULP1 | C0040128 | Thyroid Diseases | 1 | CTD_human |
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