|
||||||
|
 | |
| |
| |
| |
| 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 HSPBAP1 |
 Gene summary |
| Gene information | Gene symbol | HSPBAP1 | Gene ID | 79663 |
| Gene name | HSPB1 associated protein 1 | |
| Synonyms | PASS1 | |
| Cytomap | 3q21.1 | |
| Type of gene | protein-coding | |
| Description | HSPB1-associated protein 127 kDa heat shock protein-associated protein 1HSPB (heat shock 27kDa) associated protein 1protein associating with small stress protein PASS1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96EW2 | |
| Context | PubMed: HSPBAP1 [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 HSPBAP1 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 HSPBAP1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for HSPBAP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_387187 | 3 | 122458849:122459722:122459849:122459960:122471437:122471521 | 122459849:122459960 | ENSG00000169087.6 | ENST00000306103.2,ENST00000383659.1 |
| exon_skip_387189 | 3 | 122459849:122459960:122471437:122471521:122474106:122474278 | 122471437:122471521 | ENSG00000169087.6 | ENST00000306103.2,ENST00000383659.1 |
| exon_skip_387197 | 3 | 122471437:122471521:122474106:122474278:122477618:122477700 | 122474106:122474278 | ENSG00000169087.6 | ENST00000383659.1 |
| exon_skip_387198 | 3 | 122474170:122474278:122477618:122477700:122478070:122478207 | 122477618:122477700 | ENSG00000169087.6 | ENST00000383659.1,ENST00000467643.1 |
| exon_skip_387201 | 3 | 122478070:122478207:122487547:122487729:122496567:122496753 | 122487547:122487729 | ENSG00000169087.6 | ENST00000478601.1,ENST00000306103.2,ENST00000383659.1,ENST00000465044.1,ENST00000467643.1 |
| exon_skip_387206 | 3 | 122487547:122487729:122496567:122496753:122512463:122512507 | 122496567:122496753 | ENSG00000169087.6 | ENST00000306103.2,ENST00000465044.1,ENST00000467643.1 |
| exon_skip_387208 | 3 | 122496567:122496753:122505255:122505337:122512463:122512507 | 122505255:122505337 | ENSG00000169087.6 | ENST00000478601.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for HSPBAP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_387187 | 3 | 122458849:122459722:122459849:122459960:122471437:122471521 | 122459849:122459960 | ENSG00000169087.6 | ENST00000383659.1,ENST00000306103.2 |
| exon_skip_387189 | 3 | 122459849:122459960:122471437:122471521:122474106:122474278 | 122471437:122471521 | ENSG00000169087.6 | ENST00000383659.1,ENST00000306103.2 |
| exon_skip_387197 | 3 | 122471437:122471521:122474106:122474278:122477618:122477700 | 122474106:122474278 | ENSG00000169087.6 | ENST00000383659.1 |
| exon_skip_387198 | 3 | 122474170:122474278:122477618:122477700:122478070:122478207 | 122477618:122477700 | ENSG00000169087.6 | ENST00000383659.1,ENST00000467643.1 |
| exon_skip_387201 | 3 | 122478070:122478207:122487547:122487729:122496567:122496753 | 122487547:122487729 | ENSG00000169087.6 | ENST00000383659.1,ENST00000306103.2,ENST00000465044.1,ENST00000467643.1,ENST00000478601.1 |
| exon_skip_387206 | 3 | 122487547:122487729:122496567:122496753:122512463:122512507 | 122496567:122496753 | ENSG00000169087.6 | ENST00000306103.2,ENST00000465044.1,ENST00000467643.1 |
| exon_skip_387208 | 3 | 122496567:122496753:122505255:122505337:122512463:122512507 | 122505255:122505337 | ENSG00000169087.6 | ENST00000478601.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HSPBAP1 |
| 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 |
| ENST00000306103 | 122487547 | 122487729 | Frame-shift |
| ENST00000306103 | 122459849 | 122459960 | In-frame |
| ENST00000306103 | 122471437 | 122471521 | In-frame |
| ENST00000306103 | 122496567 | 122496753 | 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 |
| ENST00000306103 | 122487547 | 122487729 | Frame-shift |
| ENST00000306103 | 122459849 | 122459960 | In-frame |
| ENST00000306103 | 122471437 | 122471521 | In-frame |
| ENST00000306103 | 122496567 | 122496753 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HSPBAP1 |
| 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 |
| ENST00000306103 | 1970 | 488 | 122496567 | 122496753 | 209 | 394 | 21 | 83 |
| ENST00000306103 | 1970 | 488 | 122471437 | 122471521 | 886 | 969 | 247 | 275 |
| ENST00000306103 | 1970 | 488 | 122459849 | 122459960 | 970 | 1080 | 275 | 312 |
| 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 |
| ENST00000306103 | 1970 | 488 | 122496567 | 122496753 | 209 | 394 | 21 | 83 |
| ENST00000306103 | 1970 | 488 | 122471437 | 122471521 | 886 | 969 | 247 | 275 |
| ENST00000306103 | 1970 | 488 | 122459849 | 122459960 | 970 | 1080 | 275 | 312 |
| 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 |
| Q96EW2 | 21 | 83 | 1 | 488 | Chain | ID=PRO_0000284113;Note=HSPB1-associated protein 1 |
| Q96EW2 | 21 | 83 | 64 | 64 | Natural variant | ID=VAR_031703;Note=S->A;Dbxref=dbSNP:rs16833517 |
| Q96EW2 | 21 | 83 | 46 | 46 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EW2 | 247 | 275 | 226 | 488 | Alternative sequence | ID=VSP_024443;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96EW2 | 247 | 275 | 250 | 280 | Alternative sequence | ID=VSP_024444;Note=In isoform 3. FVPRHWWHYVESIDPVTVSINSWIELEEDHL->ERKWQEGTQLLLLVKRRMDFGGRQSTRVIFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EW2 | 247 | 275 | 1 | 488 | Chain | ID=PRO_0000284113;Note=HSPB1-associated protein 1 |
| Q96EW2 | 247 | 275 | 124 | 288 | Domain | Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
| Q96EW2 | 275 | 312 | 226 | 488 | Alternative sequence | ID=VSP_024443;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96EW2 | 275 | 312 | 250 | 280 | Alternative sequence | ID=VSP_024444;Note=In isoform 3. FVPRHWWHYVESIDPVTVSINSWIELEEDHL->ERKWQEGTQLLLLVKRRMDFGGRQSTRVIFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EW2 | 275 | 312 | 281 | 488 | Alternative sequence | ID=VSP_024445;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EW2 | 275 | 312 | 1 | 488 | Chain | ID=PRO_0000284113;Note=HSPB1-associated protein 1 |
| Q96EW2 | 275 | 312 | 124 | 288 | Domain | Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
| 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 |
| Q96EW2 | 21 | 83 | 1 | 488 | Chain | ID=PRO_0000284113;Note=HSPB1-associated protein 1 |
| Q96EW2 | 21 | 83 | 64 | 64 | Natural variant | ID=VAR_031703;Note=S->A;Dbxref=dbSNP:rs16833517 |
| Q96EW2 | 21 | 83 | 46 | 46 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96EW2 | 247 | 275 | 226 | 488 | Alternative sequence | ID=VSP_024443;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96EW2 | 247 | 275 | 250 | 280 | Alternative sequence | ID=VSP_024444;Note=In isoform 3. FVPRHWWHYVESIDPVTVSINSWIELEEDHL->ERKWQEGTQLLLLVKRRMDFGGRQSTRVIFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EW2 | 247 | 275 | 1 | 488 | Chain | ID=PRO_0000284113;Note=HSPB1-associated protein 1 |
| Q96EW2 | 247 | 275 | 124 | 288 | Domain | Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
| Q96EW2 | 275 | 312 | 226 | 488 | Alternative sequence | ID=VSP_024443;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96EW2 | 275 | 312 | 250 | 280 | Alternative sequence | ID=VSP_024444;Note=In isoform 3. FVPRHWWHYVESIDPVTVSINSWIELEEDHL->ERKWQEGTQLLLLVKRRMDFGGRQSTRVIFI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EW2 | 275 | 312 | 281 | 488 | Alternative sequence | ID=VSP_024445;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96EW2 | 275 | 312 | 1 | 488 | Chain | ID=PRO_0000284113;Note=HSPB1-associated protein 1 |
| Q96EW2 | 275 | 312 | 124 | 288 | Domain | Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
Top |
SNVs in the skipped exons for HSPBAP1 |
| - 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_387197 | 122474107 | 122474278 | 122474158 | 122474158 | Frame_Shift_Del | A | - | p.F230fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_387197 | 122474107 | 122474278 | 122474223 | 122474223 | Frame_Shift_Del | T | - | p.I209fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_387197 | 122474107 | 122474278 | 122474235 | 122474235 | Frame_Shift_Del | A | - | p.Y205fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_387206 | 122496568 | 122496753 | 122496734 | 122496734 | Frame_Shift_Del | A | - | p.F28fs |
| SARC | TCGA-DX-A6YV-01 | exon_skip_387189 | 122471438 | 122471521 | 122471498 | 122471498 | Nonsense_Mutation | C | T | p.W255* |
| COAD | TCGA-AD-6889-01 | exon_skip_387206 | 122496568 | 122496753 | 122496601 | 122496601 | Nonsense_Mutation | G | A | p.R73X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_387206 | 122496568 | 122496753 | 122496715 | 122496715 | Nonsense_Mutation | C | A | p.E35* |
| LUSC | TCGA-18-5592-01 | exon_skip_387206 | 122496568 | 122496753 | 122496727 | 122496727 | Nonsense_Mutation | C | A | p.E31* |
| - 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 |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122474107 | 122474278 | 122474216 | 122474217 | Frame_Shift_Ins | - | A | p.Y211fs |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122474107 | 122474278 | 122474118 | 122474118 | Missense_Mutation | T | G | p.S244R |
| OC316_OVARY | 122474107 | 122474278 | 122474219 | 122474219 | Missense_Mutation | G | T | p.P210H |
| OC314_OVARY | 122474107 | 122474278 | 122474219 | 122474219 | Missense_Mutation | G | T | p.P210H |
| ESS1_ENDOMETRIUM | 122474107 | 122474278 | 122474246 | 122474246 | Missense_Mutation | G | A | p.T201I |
| TFK1_BILIARY_TRACT | 122487548 | 122487729 | 122487651 | 122487651 | Missense_Mutation | C | T | p.S110N |
| CALU6_LUNG | 122496568 | 122496753 | 122496672 | 122496672 | Missense_Mutation | A | G | p.M49T |
| SNU1040_LARGE_INTESTINE | 122496568 | 122496753 | 122496601 | 122496601 | Nonsense_Mutation | G | A | p.R73* |
| SKLU1_LUNG | 122474107 | 122474278 | 122474278 | 122474278 | Splice_Site | C | T | p.R190R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HSPBAP1 |
| 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 HSPBAP1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSPBAP1 |
Top |
RelatedDrugs for HSPBAP1 |
| 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 HSPBAP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|