|
||||||
|
 | |
| |
| |
| |
| 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 SSBP2 |
 Gene summary |
| Gene information | Gene symbol | SSBP2 | Gene ID | 23635 |
| Gene name | single stranded DNA binding protein 2 | |
| Synonyms | HSPC116|SOSS-B2 | |
| Cytomap | 5q14.1 | |
| Type of gene | protein-coding | |
| Description | single-stranded DNA-binding protein 2sequence-specific single-stranded-DNA-binding protein 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P81877 | |
| Context | PubMed: SSBP2 [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 |
Top |
Exon skipping events across known transcript of Ensembl for SSBP2 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 SSBP2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SSBP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443015 | 5 | 80716291:80716352:80724403:80724502:80733248:80733277 | 80724403:80724502 | ENSG00000145687.11 | ENST00000513785.1,ENST00000504985.1,ENST00000510060.1,ENST00000505980.1,ENST00000320672.4,ENST00000504136.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443016 | 5 | 80733248:80733277:80736376:80736455:80738471:80738542 | 80736376:80736455 | ENSG00000145687.11 | ENST00000504985.1,ENST00000510060.1,ENST00000505980.1,ENST00000509053.1,ENST00000320672.4,ENST00000504136.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443026 | 5 | 80736376:80736455:80738471:80738542:80742686:80742741 | 80738471:80738542 | ENSG00000145687.11 | ENST00000504985.1,ENST00000510060.1,ENST00000505980.1,ENST00000509053.1,ENST00000320672.4,ENST00000512923.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443032 | 5 | 80738471:80738542:80742686:80742741:80744608:80744644 | 80742686:80742741 | ENSG00000145687.11 | ENST00000504985.1,ENST00000509743.2,ENST00000505980.1,ENST00000509053.1,ENST00000320672.4,ENST00000512923.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443036 | 5 | 80742687:80742741:80744608:80744644:80756873:80756922 | 80744608:80744644 | ENSG00000145687.11 | ENST00000507655.1,ENST00000504985.1,ENST00000509743.2,ENST00000505980.1,ENST00000509053.1,ENST00000320672.4,ENST00000512923.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443038 | 5 | 80756873:80756922:80762792:80762860:80769518:80769589 | 80762792:80762860 | ENSG00000145687.11 | ENST00000507655.1,ENST00000509743.2,ENST00000505980.1,ENST00000509053.1,ENST00000320672.4,ENST00000512923.1,ENST00000514493.1 |
| exon_skip_443039 | 5 | 80756873:80756922:80762792:80762884:80769518:80769589 | 80762792:80762884 | ENSG00000145687.11 | ENST00000504985.1,ENST00000515395.1 |
| exon_skip_443040 | 5 | 80770314:80770381:80785068:80785128:80809446:80809536 | 80785068:80785128 | ENSG00000145687.11 | ENST00000507655.1,ENST00000504985.1,ENST00000509743.2,ENST00000504174.1,ENST00000320672.4,ENST00000507472.1,ENST00000512923.1,ENST00000512098.1,ENST00000509013.2 |
| exon_skip_443042 | 5 | 80770314:80770381:80785068:80785128:80911291:80911376 | 80785068:80785128 | ENSG00000145687.11 | ENST00000509053.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443043 | 5 | 80770314:80770381:80809446:80809536:80911291:80911376 | 80809446:80809536 | ENSG00000145687.11 | ENST00000505980.1 |
| exon_skip_443045 | 5 | 80785068:80785128:80809446:80809536:80911291:80911376 | 80809446:80809536 | ENSG00000145687.11 | ENST00000507655.1,ENST00000509743.2,ENST00000504174.1,ENST00000320672.4,ENST00000507472.1,ENST00000512098.1,ENST00000509013.2 |
| exon_skip_443050 | 5 | 80809476:80809536:80911291:80911376:80932375:80932437 | 80911291:80911376 | ENSG00000145687.11 | ENST00000507655.1,ENST00000505980.1,ENST00000504174.1,ENST00000320672.4,ENST00000512098.1,ENST00000509013.2 |
| exon_skip_443057 | 5 | 80911304:80911376:80932375:80932437:80946085:80946158 | 80932375:80932437 | ENSG00000145687.11 | ENST00000507655.1,ENST00000505980.1,ENST00000506960.1,ENST00000504174.1,ENST00000509053.1,ENST00000320672.4,ENST00000512098.1,ENST00000509013.2,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443060 | 5 | 80932375:80932437:80946085:80946158:81046799:81046835 | 80946085:80946158 | ENSG00000145687.11 | ENST00000508912.1,ENST00000505980.1,ENST00000506960.1,ENST00000509053.1,ENST00000515395.1,ENST00000514493.1 |
| exon_skip_443061 | 5 | 80946085:80946158:81006496:81006587:81046799:81046835 | 81006496:81006587 | ENSG00000145687.11 | ENST00000509013.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SSBP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443015 | 5 | 80716291:80716352:80724403:80724502:80733248:80733277 | 80724403:80724502 | ENSG00000145687.11 | ENST00000320672.4,ENST00000514493.1,ENST00000504985.1,ENST00000510060.1,ENST00000505980.1,ENST00000515395.1,ENST00000513785.1,ENST00000504136.1 |
| exon_skip_443016 | 5 | 80733248:80733277:80736376:80736455:80738471:80738542 | 80736376:80736455 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509053.1,ENST00000514493.1,ENST00000504985.1,ENST00000510060.1,ENST00000505980.1,ENST00000515395.1,ENST00000504136.1 |
| exon_skip_443026 | 5 | 80736376:80736455:80738471:80738542:80742686:80742741 | 80738471:80738542 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509053.1,ENST00000514493.1,ENST00000504985.1,ENST00000512923.1,ENST00000510060.1,ENST00000505980.1,ENST00000515395.1 |
| exon_skip_443032 | 5 | 80738471:80738542:80742686:80742741:80744608:80744644 | 80742686:80742741 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509053.1,ENST00000514493.1,ENST00000504985.1,ENST00000512923.1,ENST00000505980.1,ENST00000515395.1,ENST00000509743.2 |
| exon_skip_443036 | 5 | 80742687:80742741:80744608:80744644:80756873:80756922 | 80744608:80744644 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509053.1,ENST00000514493.1,ENST00000504985.1,ENST00000512923.1,ENST00000505980.1,ENST00000515395.1,ENST00000509743.2,ENST00000507655.1 |
| exon_skip_443038 | 5 | 80756873:80756922:80762792:80762860:80769518:80769589 | 80762792:80762860 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509053.1,ENST00000514493.1,ENST00000512923.1,ENST00000505980.1,ENST00000509743.2,ENST00000507655.1 |
| exon_skip_443039 | 5 | 80756873:80756922:80762792:80762884:80769518:80769589 | 80762792:80762884 | ENSG00000145687.11 | ENST00000504985.1,ENST00000515395.1 |
| exon_skip_443040 | 5 | 80770314:80770381:80785068:80785128:80809446:80809536 | 80785068:80785128 | ENSG00000145687.11 | ENST00000320672.4,ENST00000504985.1,ENST00000512923.1,ENST00000509743.2,ENST00000507655.1,ENST00000507472.1,ENST00000509013.2,ENST00000504174.1,ENST00000512098.1 |
| exon_skip_443042 | 5 | 80770314:80770381:80785068:80785128:80911291:80911376 | 80785068:80785128 | ENSG00000145687.11 | ENST00000509053.1,ENST00000514493.1,ENST00000515395.1 |
| exon_skip_443043 | 5 | 80770314:80770381:80809446:80809536:80911291:80911376 | 80809446:80809536 | ENSG00000145687.11 | ENST00000505980.1 |
| exon_skip_443045 | 5 | 80785068:80785128:80809446:80809536:80911291:80911376 | 80809446:80809536 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509743.2,ENST00000507655.1,ENST00000507472.1,ENST00000509013.2,ENST00000504174.1,ENST00000512098.1 |
| exon_skip_443049 | 5 | 80785068:80785128:80911291:80911376:80932375:80932437 | 80911291:80911376 | ENSG00000145687.11 | ENST00000509053.1,ENST00000514493.1,ENST00000515395.1 |
| exon_skip_443050 | 5 | 80809476:80809536:80911291:80911376:80932375:80932437 | 80911291:80911376 | ENSG00000145687.11 | ENST00000320672.4,ENST00000505980.1,ENST00000507655.1,ENST00000509013.2,ENST00000504174.1,ENST00000512098.1 |
| exon_skip_443052 | 5 | 80809446:80809536:80911291:80911376:81046799:81046835 | 80911291:80911376 | ENSG00000145687.11 | ENST00000507472.1 |
| exon_skip_443057 | 5 | 80911304:80911376:80932375:80932437:80946085:80946158 | 80932375:80932437 | ENSG00000145687.11 | ENST00000320672.4,ENST00000509053.1,ENST00000514493.1,ENST00000505980.1,ENST00000515395.1,ENST00000507655.1,ENST00000509013.2,ENST00000504174.1,ENST00000512098.1,ENST00000506960.1 |
| exon_skip_443060 | 5 | 80932375:80932437:80946085:80946158:81046799:81046835 | 80946085:80946158 | ENSG00000145687.11 | ENST00000509053.1,ENST00000514493.1,ENST00000505980.1,ENST00000515395.1,ENST00000506960.1,ENST00000508912.1 |
| exon_skip_443061 | 5 | 80946085:80946158:81006496:81006587:81046799:81046835 | 81006496:81006587 | ENSG00000145687.11 | ENST00000509013.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SSBP2 |
| 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 |
| ENST00000320672 | 80736376 | 80736455 | Frame-shift |
| ENST00000320672 | 80738471 | 80738542 | Frame-shift |
| ENST00000320672 | 80742686 | 80742741 | Frame-shift |
| ENST00000320672 | 80762792 | 80762860 | Frame-shift |
| ENST00000320672 | 80911291 | 80911376 | Frame-shift |
| ENST00000320672 | 80932375 | 80932437 | Frame-shift |
| ENST00000320672 | 80724403 | 80724502 | In-frame |
| ENST00000320672 | 80744608 | 80744644 | In-frame |
| ENST00000320672 | 80785068 | 80785128 | In-frame |
| ENST00000320672 | 80809446 | 80809536 | 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 |
| ENST00000320672 | 80736376 | 80736455 | Frame-shift |
| ENST00000320672 | 80738471 | 80738542 | Frame-shift |
| ENST00000320672 | 80742686 | 80742741 | Frame-shift |
| ENST00000320672 | 80762792 | 80762860 | Frame-shift |
| ENST00000320672 | 80911291 | 80911376 | Frame-shift |
| ENST00000320672 | 80932375 | 80932437 | Frame-shift |
| ENST00000320672 | 80724403 | 80724502 | In-frame |
| ENST00000320672 | 80744608 | 80744644 | In-frame |
| ENST00000320672 | 80785068 | 80785128 | In-frame |
| ENST00000320672 | 80809446 | 80809536 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SSBP2 |
| 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 |
| ENST00000320672 | 8797 | 361 | 80809446 | 80809536 | 494 | 583 | 94 | 124 |
| ENST00000320672 | 8797 | 361 | 80785068 | 80785128 | 584 | 643 | 124 | 144 |
| ENST00000320672 | 8797 | 361 | 80744608 | 80744644 | 899 | 934 | 229 | 241 |
| ENST00000320672 | 8797 | 361 | 80724403 | 80724502 | 1169 | 1267 | 319 | 352 |
| 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 |
| ENST00000320672 | 8797 | 361 | 80809446 | 80809536 | 494 | 583 | 94 | 124 |
| ENST00000320672 | 8797 | 361 | 80785068 | 80785128 | 584 | 643 | 124 | 144 |
| ENST00000320672 | 8797 | 361 | 80744608 | 80744644 | 899 | 934 | 229 | 241 |
| ENST00000320672 | 8797 | 361 | 80724403 | 80724502 | 1169 | 1267 | 319 | 352 |
| 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 SSBP2 |
| - 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-A1EG-01 | exon_skip_443057 | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443057 | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_443057 | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| STAD | TCGA-B7-A5TI-01 | exon_skip_443057 | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_443057 | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_443015 | 80724404 | 80724502 | 80724434 | 80724435 | Frame_Shift_Ins | - | C | p.G350fs |
| SKCM | TCGA-EE-A182-06 | exon_skip_443040 exon_skip_443042 | 80785069 | 80785128 | 80785071 | 80785071 | Nonsense_Mutation | G | A | p.Q144* |
| HNSC | TCGA-BB-A5HU-01 | exon_skip_443043 exon_skip_443045 | 80809447 | 80809536 | 80809449 | 80809449 | Nonsense_Mutation | G | A | p.Q124* |
| BLCA | TCGA-K4-A54R-01 | exon_skip_443050 | 80911292 | 80911376 | 80911320 | 80911320 | Nonsense_Mutation | G | T | p.S85* |
| COAD | TCGA-AA-3660-01 | exon_skip_443050 | 80911292 | 80911376 | 80911291 | 80911291 | Splice_Site | C | T | . |
| BLCA | TCGA-G2-A2EJ-01 | exon_skip_443050 | 80911292 | 80911376 | 80911377 | 80911377 | Splice_Site | C | G | p.C66_splice |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| HCC1569_BREAST | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| OVK18_OVARY | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| LB1047RCC_KIDNEY | 80932376 | 80932437 | 80932421 | 80932421 | Frame_Shift_Del | T | - | p.N51fs |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80736377 | 80736455 | 80736412 | 80736412 | Missense_Mutation | C | T | p.G298E |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80738472 | 80738542 | 80738477 | 80738477 | Missense_Mutation | G | A | p.P282S |
| LNCAPCLONEFGC_PROSTATE | 80738472 | 80738542 | 80738495 | 80738495 | Missense_Mutation | G | A | p.P276S |
| PEO1_OVARY | 80738472 | 80738542 | 80738508 | 80738508 | Missense_Mutation | T | A | p.L271F |
| RF48_STOMACH | 80742687 | 80742741 | 80742735 | 80742735 | Missense_Mutation | G | T | p.P244T |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 80762793 | 80762884 | 80762807 | 80762807 | Missense_Mutation | C | T | p.M208I |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 80762793 | 80762860 | 80762807 | 80762807 | Missense_Mutation | C | T | p.M208I |
| GP2D_LARGE_INTESTINE | 80809447 | 80809536 | 80809451 | 80809451 | Missense_Mutation | A | T | p.F123Y |
| GP5D_LARGE_INTESTINE | 80809447 | 80809536 | 80809451 | 80809451 | Missense_Mutation | A | T | p.F123Y |
| NCIH1573_LUNG | 80932376 | 80932437 | 80932433 | 80932433 | Missense_Mutation | C | A | p.R47I |
| HT55_LARGE_INTESTINE | 80946086 | 80946158 | 80946139 | 80946140 | Nonsense_Mutation | CA | TC | p.27_28YE>*K |
| HT55_LARGE_INTESTINE | 80946086 | 80946158 | 80946140 | 80946140 | Nonsense_Mutation | A | C | p.Y27* |
| NCIH684_LIVER | 80762793 | 80762884 | 80762793 | 80762793 | Splice_Site | A | G | p.M213T |
| NCIH684_LIVER | 80762793 | 80762860 | 80762793 | 80762793 | Splice_Site | A | G | p.M213T |
| HEC251_ENDOMETRIUM | 80809447 | 80809536 | 80809535 | 80809535 | Splice_Site | C | A | p.S95I |
| CAL78_BONE | 80946086 | 80946158 | 80946158 | 80946158 | Splice_Site | C | G | p.K21N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SSBP2 |
| 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 SSBP2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SSBP2 |
Top |
RelatedDrugs for SSBP2 |
| 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 SSBP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SSBP2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|