|
||||||
|
 | |
| |
| |
| |
| 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 GBA |
 Gene summary |
| Gene information | Gene symbol | GBA | Gene ID | 2629 |
| Gene name | glucosylceramidase beta | |
| Synonyms | GBA1|GCB|GLUC | |
| Cytomap | 1q22 | |
| Type of gene | protein-coding | |
| Description | glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosidase, beta, acidglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase | |
| Modification date | 20180527 | |
| UniProtAcc | P04062 | |
| Context | PubMed: GBA [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 |
| GBA | GO:0032463 | negative regulation of protein homooligomerization | 26392287 |
| GBA | GO:0032715 | negative regulation of interleukin-6 production | 19279008 |
| GBA | GO:0043243 | positive regulation of protein complex disassembly | 26392287 |
Top |
Exon skipping events across known transcript of Ensembl for GBA 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 GBA |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for GBA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_32318 | 1 | 155206186:155206260:155207131:155207369:155207924:155208097 | 155207131:155207369 | ENSG00000177628.11 | ENST00000491081.1,ENST00000427500.3,ENST00000368373.3,ENST00000428024.3,ENST00000327247.5,ENST00000536770.1,ENST00000497670.1 |
| exon_skip_32321 | 1 | 155208354:155208441:155209406:155209553:155209676:155209753 | 155209406:155209553 | ENSG00000177628.11 | ENST00000368373.3,ENST00000428024.3,ENST00000327247.5,ENST00000473570.1,ENST00000493842.1 |
| exon_skip_32323 | 1 | 155208354:155208441:155209676:155209868:155210420:155210508 | 155209676:155209868 | ENSG00000177628.11 | ENST00000427500.3 |
| exon_skip_32327 | 1 | 155208354:155208441:155210420:155210508:155210876:155210971 | 155210420:155210508 | ENSG00000177628.11 | ENST00000536770.1 |
| exon_skip_32336 | 1 | 155209763:155209868:155209967:155210090:155210420:155210508 | 155209967:155210090 | ENSG00000177628.11 | ENST00000470104.1 |
| exon_skip_32338 | 1 | 155209763:155209868:155210420:155210508:155210876:155210952 | 155210420:155210508 | ENSG00000177628.11 | ENST00000427500.3,ENST00000327247.5,ENST00000473570.1,ENST00000484489.1,ENST00000493842.1 |
| exon_skip_32352 | 1 | 155210420:155210508:155210876:155210971:155213885:155214021 | 155210876:155210971 | ENSG00000177628.11 | ENST00000467918.1,ENST00000473570.1,ENST00000493842.1 |
| exon_skip_32353 | 1 | 155210420:155210508:155210876:155210971:155214296:155214397 | 155210876:155210971 | ENSG00000177628.11 | ENST00000327247.5 |
| exon_skip_32361 | 1 | 155210876:155210971:155213885:155214021:155214296:155214397 | 155213885:155214021 | ENSG00000177628.11 | ENST00000467918.1,ENST00000473570.1 |
| exon_skip_32362 | 1 | 155210876:155210971:155213885:155214024:155214296:155214397 | 155213885:155214024 | ENSG00000177628.11 | ENST00000493842.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for GBA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_32318 | 1 | 155206186:155206260:155207131:155207369:155207924:155208097 | 155207131:155207369 | ENSG00000177628.11 | ENST00000368373.3,ENST00000327247.5,ENST00000427500.3,ENST00000536770.1,ENST00000428024.3,ENST00000491081.1,ENST00000497670.1 |
| exon_skip_32321 | 1 | 155208354:155208441:155209406:155209553:155209676:155209753 | 155209406:155209553 | ENSG00000177628.11 | ENST00000368373.3,ENST00000327247.5,ENST00000428024.3,ENST00000493842.1,ENST00000473570.1 |
| exon_skip_32323 | 1 | 155208354:155208441:155209676:155209868:155210420:155210508 | 155209676:155209868 | ENSG00000177628.11 | ENST00000427500.3 |
| exon_skip_32327 | 1 | 155208354:155208441:155210420:155210508:155210876:155210971 | 155210420:155210508 | ENSG00000177628.11 | ENST00000536770.1 |
| exon_skip_32336 | 1 | 155209763:155209868:155209967:155210090:155210420:155210508 | 155209967:155210090 | ENSG00000177628.11 | ENST00000470104.1 |
| exon_skip_32338 | 1 | 155209763:155209868:155210420:155210508:155210876:155210952 | 155210420:155210508 | ENSG00000177628.11 | ENST00000327247.5,ENST00000427500.3,ENST00000484489.1,ENST00000493842.1,ENST00000473570.1 |
| exon_skip_32353 | 1 | 155210420:155210508:155210876:155210971:155214296:155214397 | 155210876:155210971 | ENSG00000177628.11 | ENST00000327247.5 |
| exon_skip_32361 | 1 | 155210876:155210971:155213885:155214021:155214296:155214397 | 155213885:155214021 | ENSG00000177628.11 | ENST00000473570.1,ENST00000467918.1 |
| exon_skip_32362 | 1 | 155210876:155210971:155213885:155214024:155214296:155214397 | 155213885:155214024 | ENSG00000177628.11 | ENST00000493842.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GBA |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for GBA |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for GBA |
| - 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-A39Y-01 | exon_skip_32323 | 155209677 | 155209868 | 155209723 | 155209723 | Frame_Shift_Del | C | - | p.R87fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_32323 | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| UCEC | TCGA-AP-A0LD-01 | exon_skip_32323 | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| LUAD | TCGA-55-8506-01 | exon_skip_32323 | 155209677 | 155209868 | 155209780 | 155209781 | Frame_Shift_Ins | - | G | p.H68fs |
| STAD | TCGA-CG-5733-01 | exon_skip_32323 | 155209677 | 155209868 | 155209816 | 155209817 | Frame_Shift_Ins | - | AC | p.V56fs |
| STAD | TCGA-CG-5733-01 | exon_skip_32323 | 155209677 | 155209868 | 155209817 | 155209818 | Frame_Shift_Ins | - | AC | p.V56fs |
| DLBC | TCGA-FA-A4XK-01 | exon_skip_32318 | 155207132 | 155207369 | 155207245 | 155207245 | Nonsense_Mutation | G | A | p.R296X |
| COAD | TCGA-AZ-6598-01 | exon_skip_32323 | 155209677 | 155209868 | 155209728 | 155209728 | Nonsense_Mutation | G | A | p.R86X |
| ESCA | TCGA-X8-AAAR-01 | exon_skip_32318 | 155207132 | 155207369 | 155207371 | 155207371 | Splice_Site | T | C | e7-2 |
| - 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 |
| SNU175_LARGE_INTESTINE | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| SNUC2A_LARGE_INTESTINE | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| CW2_LARGE_INTESTINE | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| MFE296_ENDOMETRIUM | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| SNUC2B_LARGE_INTESTINE | 155209677 | 155209868 | 155209781 | 155209781 | Frame_Shift_Del | G | - | p.P68fs |
| TGBC11TKB_STOMACH | 155207132 | 155207369 | 155207185 | 155207185 | Missense_Mutation | G | A | p.R316C |
| 2313287_STOMACH | 155207132 | 155207369 | 155207193 | 155207193 | Missense_Mutation | T | C | p.H313R |
| HCC2450_LUNG | 155207132 | 155207369 | 155207237 | 155207237 | Missense_Mutation | G | T | p.F298L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155207132 | 155207369 | 155207328 | 155207328 | Missense_Mutation | G | A | p.A268V |
| NCIH1975_LUNG | 155207132 | 155207369 | 155207359 | 155207359 | Missense_Mutation | C | A | p.A258S |
| MG63_BONE | 155209407 | 155209553 | 155209452 | 155209452 | Missense_Mutation | G | A | p.P137S |
| PA1_OVARY | 155209407 | 155209553 | 155209499 | 155209499 | Missense_Mutation | C | T | p.G121E |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155209677 | 155209868 | 155209725 | 155209725 | Missense_Mutation | G | A | p.R87W |
| CAKI1_KIDNEY | 155209677 | 155209868 | 155209737 | 155209737 | Missense_Mutation | G | A | p.R83C |
| SW684_SOFT_TISSUE | 155209677 | 155209868 | 155209782 | 155209782 | Missense_Mutation | G | A | p.P68S |
| MEWO_SKIN | 155209677 | 155209868 | 155209792 | 155209793 | Missense_Mutation | GG | AA | p.S64F |
| CP67MEL_SKIN | 155209677 | 155209868 | 155209698 | 155209698 | Nonsense_Mutation | G | A | p.Q96* |
| NCIH1581_LUNG | 155210877 | 155210971 | 155210877 | 155210877 | Splice_Site | C | G | p.E9D |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GBA |
| 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 GBA |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GBA |
Top |
RelatedDrugs for GBA |
| 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 |
| P04062 | DB06720 | Velaglucerase alfa | Glucosylceramidase | biotech | approved|investigational |
Top |
RelatedDiseases for GBA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GBA | C1961835 | Gaucher Disease, Type 1 | 40 | ORPHANET;UNIPROT |
| GBA | C0268250 | Gaucher Disease, Type 2 (disorder) | 12 | ORPHANET;UNIPROT |
| GBA | C0017205 | Gaucher Disease | 5 | CTD_human |
| GBA | C0030567 | Parkinson Disease | 2 | CTD_human |
| GBA | C0020542 | Pulmonary Hypertension | 1 | CTD_human;HPO |
| GBA | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
| GBA | C0268251 | Gaucher Disease, Type 3 (disorder) | 1 | ORPHANET;UNIPROT |
| GBA | C0752347 | Lewy Body Disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|