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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 SAFB2 |
 Gene summary |
| Gene information | Gene symbol | SAFB2 | Gene ID | 9667 |
| Gene name | scaffold attachment factor B2 | |
| Synonyms | - | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | scaffold attachment factor B2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q14151 | |
| Context | PubMed: SAFB2 [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 SAFB2 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 SAFB2 |
| 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 SAFB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_313489 | 19 | 5587711:5587778:5587878:5587991:5590288:5590419 | 5587878:5587991 | ENSG00000130254.7 | ENST00000252542.4 |
| exon_skip_313492 | 19 | 5587878:5587991:5590288:5590419:5591758:5591804 | 5590288:5590419 | ENSG00000130254.7 | ENST00000252542.4,ENST00000589925.1 |
| exon_skip_313494 | 19 | 5593901:5594189:5595371:5595508:5598803:5598895 | 5595371:5595508 | ENSG00000130254.7 | ENST00000252542.4 |
| exon_skip_313500 | 19 | 5610005:5610106:5610649:5610699:5612550:5612578 | 5610649:5610699 | ENSG00000130254.7 | ENST00000591123.1 |
| exon_skip_313503 | 19 | 5610649:5610699:5611130:5611641:5612550:5612578 | 5611130:5611641 | ENSG00000130254.7 | ENST00000252542.4 |
| exon_skip_313505 | 19 | 5613475:5613538:5616138:5616346:5621319:5621407 | 5616138:5616346 | ENSG00000130254.7 | ENST00000591120.1 |
| exon_skip_313508 | 19 | 5616142:5616346:5616432:5616497:5621319:5621407 | 5616432:5616497 | ENSG00000130254.7 | ENST00000252542.4,ENST00000590262.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAFB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_313489 | 19 | 5587711:5587778:5587878:5587991:5590288:5590419 | 5587878:5587991 | ENSG00000130254.7 | ENST00000252542.4 |
| exon_skip_313492 | 19 | 5587878:5587991:5590288:5590419:5591758:5591804 | 5590288:5590419 | ENSG00000130254.7 | ENST00000252542.4,ENST00000589925.1 |
| exon_skip_313494 | 19 | 5593901:5594189:5595371:5595508:5598803:5598895 | 5595371:5595508 | ENSG00000130254.7 | ENST00000252542.4 |
| exon_skip_313500 | 19 | 5610005:5610106:5610649:5610699:5612550:5612578 | 5610649:5610699 | ENSG00000130254.7 | ENST00000591123.1 |
| exon_skip_313503 | 19 | 5610649:5610699:5611130:5611641:5612550:5612578 | 5611130:5611641 | ENSG00000130254.7 | ENST00000252542.4 |
| exon_skip_313505 | 19 | 5613475:5613538:5616138:5616346:5621319:5621407 | 5616138:5616346 | ENSG00000130254.7 | ENST00000591120.1 |
| exon_skip_313508 | 19 | 5616142:5616346:5616432:5616497:5621319:5621407 | 5616432:5616497 | ENSG00000130254.7 | ENST00000252542.4,ENST00000590262.1 |
| 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 SAFB2 |
| 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 |
| ENST00000252542 | 5587878 | 5587991 | Frame-shift |
| ENST00000252542 | 5590288 | 5590419 | Frame-shift |
| ENST00000252542 | 5595371 | 5595508 | Frame-shift |
| ENST00000252542 | 5611130 | 5611641 | Frame-shift |
| ENST00000252542 | 5616432 | 5616497 | 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 |
| ENST00000252542 | 5587878 | 5587991 | Frame-shift |
| ENST00000252542 | 5590288 | 5590419 | Frame-shift |
| ENST00000252542 | 5595371 | 5595508 | Frame-shift |
| ENST00000252542 | 5611130 | 5611641 | Frame-shift |
| ENST00000252542 | 5616432 | 5616497 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SAFB2 |
| 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 |
| 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 |
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SNVs in the skipped exons for SAFB2 |
| - 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 |
| STAD | TCGA-HU-A4H3-01 | exon_skip_313492 | 5590289 | 5590419 | 5590298 | 5590298 | Frame_Shift_Del | G | - | p.P839fs |
| COAD | TCGA-CM-6162-01 | exon_skip_313492 | 5590289 | 5590419 | 5590306 | 5590306 | Frame_Shift_Del | C | - | p.L837fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_313492 | 5590289 | 5590419 | 5590306 | 5590306 | Frame_Shift_Del | C | - | p.G836fs |
| COAD | TCGA-A6-6781-01 | exon_skip_313492 | 5590289 | 5590419 | 5590343 | 5590343 | Frame_Shift_Del | C | - | p.G824fs |
| COAD | TCGA-D5-6928-01 | exon_skip_313492 | 5590289 | 5590419 | 5590343 | 5590343 | Frame_Shift_Del | C | - | p.G824fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_313492 | 5590289 | 5590419 | 5590343 | 5590343 | Frame_Shift_Del | C | - | p.G824fs |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_313492 | 5590289 | 5590419 | 5590343 | 5590343 | Frame_Shift_Del | C | - | p.G824fs |
| UCEC | TCGA-D1-A176-01 | exon_skip_313492 | 5590289 | 5590419 | 5590343 | 5590343 | Frame_Shift_Del | C | - | p.G824fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_313494 | 5595372 | 5595508 | 5595419 | 5595420 | Frame_Shift_Del | CT | - | p.624_625del |
| STAD | TCGA-HU-A4GN-01 | exon_skip_313494 | 5595372 | 5595508 | 5595419 | 5595420 | Frame_Shift_Del | CT | - | p.E624fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_313500 | 5610650 | 5610699 | 5610693 | 5610693 | Frame_Shift_Del | A | - | p.F384fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_313505 | 5616139 | 5616346 | 5616208 | 5616208 | Frame_Shift_Del | A | - | p.C160fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_313505 | 5616139 | 5616346 | 5616221 | 5616221 | Frame_Shift_Del | A | - | p.L156fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_313492 | 5590289 | 5590419 | 5590342 | 5590343 | Frame_Shift_Ins | - | C | p.V824fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_313492 | 5590289 | 5590419 | 5590342 | 5590343 | Frame_Shift_Ins | - | C | p.V824fs |
| SKCM | TCGA-EE-A29S-06 | exon_skip_313492 | 5590289 | 5590419 | 5590342 | 5590343 | Frame_Shift_Ins | - | C | p.V824fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_313492 | 5590289 | 5590419 | 5590381 | 5590382 | Frame_Shift_Ins | - | G | p.R811fs |
| UCEC | TCGA-D1-A17D-01 | exon_skip_313505 | 5616139 | 5616346 | 5616281 | 5616281 | Nonsense_Mutation | G | A | p.R114* |
| COAD | TCGA-G4-6302-01 | exon_skip_313505 | 5616139 | 5616346 | 5616316 | 5616316 | Nonsense_Mutation | G | A | p.Q124X |
| - 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 |
| OC316_OVARY | 5590289 | 5590419 | 5590343 | 5590343 | Frame_Shift_Del | C | - | p.G824fs |
| HEC265_ENDOMETRIUM | 5595372 | 5595508 | 5595419 | 5595420 | Frame_Shift_Del | CT | - | p.E624fs |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5611131 | 5611641 | 5611372 | 5611374 | In_Frame_Del | CGC | - | p.G301del |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5587879 | 5587991 | 5587908 | 5587908 | Missense_Mutation | G | A | p.A870V |
| COLO783_SKIN | 5587879 | 5587991 | 5587918 | 5587919 | Missense_Mutation | CC | TT | p.866_867MD>IN |
| COLO783_SKIN | 5587879 | 5587991 | 5587918 | 5587918 | Missense_Mutation | C | T | p.D867N |
| COLO783_SKIN | 5587879 | 5587991 | 5587919 | 5587919 | Missense_Mutation | C | T | p.M866I |
| MELHO_SKIN | 5587879 | 5587991 | 5587932 | 5587932 | Missense_Mutation | C | A | p.W862L |
| PCI30_UPPER_AERODIGESTIVE_TRACT | 5587879 | 5587991 | 5587977 | 5587977 | Missense_Mutation | C | G | p.W847S |
| HCC1171_LUNG | 5590289 | 5590419 | 5590295 | 5590295 | Missense_Mutation | G | A | p.P840L |
| LB2241EBV_MATCHED_NORMAL_TISSUE | 5590289 | 5590419 | 5590344 | 5590344 | Missense_Mutation | C | A | p.G824C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5590289 | 5590419 | 5590403 | 5590403 | Missense_Mutation | C | T | p.R804H |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5595372 | 5595508 | 5595440 | 5595440 | Missense_Mutation | G | C | p.I617M |
| SNU1040_LARGE_INTESTINE | 5595372 | 5595508 | 5595489 | 5595489 | Missense_Mutation | C | T | p.R601H |
| TYKNU_OVARY | 5610650 | 5610699 | 5610668 | 5610668 | Missense_Mutation | T | C | p.I393V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 5610650 | 5610699 | 5610695 | 5610695 | Missense_Mutation | A | C | p.F384V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 5611131 | 5611641 | 5611159 | 5611159 | Missense_Mutation | T | C | p.T373A |
| NCIH650_LUNG | 5611131 | 5611641 | 5611179 | 5611179 | Missense_Mutation | G | A | p.P366L |
| HS706T_BONE | 5611131 | 5611641 | 5611219 | 5611219 | Missense_Mutation | C | T | p.G353R |
| SW48_LARGE_INTESTINE | 5611131 | 5611641 | 5611239 | 5611239 | Missense_Mutation | G | A | p.A346V |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 5611131 | 5611641 | 5611282 | 5611282 | Missense_Mutation | C | T | p.E332K |
| HEC1B_ENDOMETRIUM | 5611131 | 5611641 | 5611297 | 5611297 | Missense_Mutation | C | T | p.A327T |
| LNCAPCLONEFGC_PROSTATE | 5611131 | 5611641 | 5611476 | 5611476 | Missense_Mutation | T | C | p.E267G |
| SNUC2A_LARGE_INTESTINE | 5611131 | 5611641 | 5611482 | 5611482 | Missense_Mutation | G | A | p.P265L |
| CW2_LARGE_INTESTINE | 5611131 | 5611641 | 5611494 | 5611494 | Missense_Mutation | T | C | p.D261G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 5611131 | 5611641 | 5611579 | 5611579 | Missense_Mutation | T | C | p.S233G |
| HUCCT1_BILIARY_TRACT | 5616139 | 5616346 | 5616276 | 5616276 | Missense_Mutation | G | A | p.T137I |
| HUCCT1_BILIARY_TRACT | 5616139 | 5616346 | 5616280 | 5616280 | Missense_Mutation | C | T | p.E136K |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5616433 | 5616497 | 5616438 | 5616438 | Missense_Mutation | C | T | p.G112R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAFB2 |
| 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 SAFB2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAFB2 |
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RelatedDrugs for SAFB2 |
| 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 SAFB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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