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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 SURF2 |
Gene summary |
| Gene information | Gene symbol | SURF2 | Gene ID | 6835 |
| Gene name | surfeit 2 | |
| Synonyms | SURF-2 | |
| Cytomap | 9q34.2 | |
| Type of gene | protein-coding | |
| Description | surfeit locus protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15527 | |
| Context | PubMed: SURF2 [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 SURF2 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 SURF2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SURF2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_500755 | 9 | 136223789:136223944:136224586:136224690:136226825:136226900 | 136224586:136224690 | ENSG00000148291.5 | ENST00000371964.4 |
| exon_skip_500761 | 9 | 136223923:136224058:136224586:136224690:136226825:136226900 | 136224586:136224690 | ENSG00000148291.5 | ENST00000486887.1 |
| exon_skip_500762 | 9 | 136224586:136224690:136226825:136227005:136227140:136227310 | 136226825:136227005 | ENSG00000148291.5 | ENST00000371964.4 |
| exon_skip_500769 | 9 | 136226825:136227005:136227140:136227310:136227931:136228045 | 136227140:136227310 | ENSG00000148291.5 | ENST00000371964.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SURF2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_500755 | 9 | 136223789:136223944:136224586:136224690:136226825:136226900 | 136224586:136224690 | ENSG00000148291.5 | ENST00000371964.4 |
| exon_skip_500761 | 9 | 136223923:136224058:136224586:136224690:136226825:136226900 | 136224586:136224690 | ENSG00000148291.5 | ENST00000486887.1 |
| exon_skip_500762 | 9 | 136224586:136224690:136226825:136227005:136227140:136227310 | 136226825:136227005 | ENSG00000148291.5 | ENST00000371964.4 |
| exon_skip_500769 | 9 | 136226825:136227005:136227140:136227310:136227931:136228045 | 136227140:136227310 | ENSG00000148291.5 | ENST00000371964.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SURF2 |
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 |
| ENST00000371964 | 136224586 | 136224690 | Frame-shift |
| ENST00000371964 | 136227140 | 136227310 | Frame-shift |
| ENST00000371964 | 136226825 | 136227005 | 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 |
| ENST00000371964 | 136224586 | 136224690 | Frame-shift |
| ENST00000371964 | 136227140 | 136227310 | Frame-shift |
| ENST00000371964 | 136226825 | 136227005 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SURF2 |
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 |
| ENST00000371964 | 859 | 256 | 136226825 | 136227005 | 379 | 558 | 112 | 172 |
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 |
| ENST00000371964 | 859 | 256 | 136226825 | 136227005 | 379 | 558 | 112 | 172 |
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 |
| Q15527 | 112 | 172 | 1 | 256 | Chain | ID=PRO_0000072319;Note=Surfeit locus protein 2 |
| Q15527 | 112 | 172 | 142 | 143 | Sequence conflict | Note=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15527 | 112 | 172 | 160 | 160 | Sequence conflict | Note=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
| Q15527 | 112 | 172 | 1 | 256 | Chain | ID=PRO_0000072319;Note=Surfeit locus protein 2 |
| Q15527 | 112 | 172 | 142 | 143 | Sequence conflict | Note=DG->EA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15527 | 112 | 172 | 160 | 160 | Sequence conflict | Note=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for SURF2 |
- 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-A3A0-01 | exon_skip_500769 | 136227141 | 136227310 | 136227149 | 136227149 | Frame_Shift_Del | T | - | p.F176fs |
| HNSC | TCGA-CX-7082-01 | exon_skip_500769 | 136227141 | 136227310 | 136227265 | 136227266 | Frame_Shift_Del | GA | - | p.R214fs |
| HNSC | TCGA-CX-7082-01 | exon_skip_500769 | 136227141 | 136227310 | 136227265 | 136227266 | Frame_Shift_Del | GA | - | p.RR214fs |
| SARC | TCGA-QQ-A5VD-01 | exon_skip_500761 exon_skip_500755 | 136224587 | 136224690 | 136224672 | 136224672 | Nonsense_Mutation | C | T | p.Q107* |
- 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 |
| JHH6_LIVER | 136226826 | 136227005 | 136226922 | 136226932 | Frame_Shift_Del | GCCCGCGGGAA | - | p.RPRE145fs |
| SNUC4_LARGE_INTESTINE | 136224587 | 136224690 | 136224616 | 136224616 | Missense_Mutation | G | A | p.R88Q |
| JHH6_LIVER | 136226826 | 136227005 | 136226915 | 136226915 | Missense_Mutation | G | A | p.G143R |
| NCIH513_PLEURA | 136226826 | 136227005 | 136226921 | 136226921 | Missense_Mutation | C | T | p.R145C |
| NCIH1688_LUNG | 136226826 | 136227005 | 136226924 | 136226924 | Missense_Mutation | C | A | p.P146T |
| NCIH2172_LUNG | 136226826 | 136227005 | 136226925 | 136226925 | Missense_Mutation | C | A | p.P146Q |
| GP5D_LARGE_INTESTINE | 136227141 | 136227310 | 136227261 | 136227261 | Missense_Mutation | G | A | p.S213N |
| CHLA218_BONE | 136227141 | 136227310 | 136227262 | 136227262 | Missense_Mutation | C | G | p.S213R |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136227141 | 136227310 | 136227262 | 136227262 | Missense_Mutation | C | G | p.S213R |
| TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 136227141 | 136227310 | 136227267 | 136227267 | Missense_Mutation | G | A | p.R215K |
| COLO824_BREAST | 136224587 | 136224690 | 136224675 | 136224675 | Nonsense_Mutation | C | T | p.R108* |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 136226826 | 136227005 | 136227005 | 136227005 | Splice_Site | C | T | p.P173S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SURF2 |
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 SURF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SURF2 |
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RelatedDrugs for SURF2 |
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 SURF2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |