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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for SAR1B |
 Gene summary |
| Gene information | Gene symbol | SAR1B | Gene ID | 51128 |
| Gene name | secretion associated Ras related GTPase 1B | |
| Synonyms | ANDD|CMRD|GTBPB|SARA2 | |
| Cytomap | 5q31.1 | |
| Type of gene | protein-coding | |
| Description | GTP-binding protein SAR1b2310075M17RikGTP-binding protein BGTP-binding protein SaraSAR1 homolog BSAR1a gene homolog 2 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for SAR1B |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000152700
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000509937.5 | SAR1B-211:protein_coding:SAR1B | 9.025405e+00 | 1.456251e+00 | 1.323048e-03 | 6.535542e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SAR1B |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102354 | chr5 | 134612691:134612756:134618192:134618313:134620933:134621001 | 134618192:134618313 |
| exon_skip_104957 | chr5 | 134612691:134612756:134620933:134621052:134623962:134624037 | 134620933:134621052 |
| exon_skip_169713 | chr5 | 134609610:134609674:134612691:134612756:134620933:134621001 | 134612691:134612756 |
| exon_skip_195070 | chr5 | 134623962:134624037:134625777:134625876:134632728:134632769 | 134625777:134625876 |
| exon_skip_196058 | chr5 | 134623962:134624037:134632077:134632199:134632728:134632769 | 134632077:134632199 |
| exon_skip_196549 | chr5 | 134623962:134624037:134632077:134632195:134632728:134632769 | 134632077:134632195 |
| exon_skip_207977 | chr5 | 134623962:134624037:134632077:134632199:134632728:134632825 | 134632077:134632199 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for SAR1B |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000439578 | 134632077 | 134632195 | 3UTR-3UTR |
| ENST00000402673 | 134612691 | 134612756 | In-frame |
| ENST00000439578 | 134612691 | 134612756 | In-frame |
| ENST00000402673 | 134620933 | 134621052 | In-frame |
| ENST00000439578 | 134620933 | 134621052 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000439578 | 134632077 | 134632195 | 3UTR-3UTR |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000439578 | 134632077 | 134632195 | 3UTR-3UTR |
| ENST00000402673 | 134612691 | 134612756 | In-frame |
| ENST00000439578 | 134612691 | 134612756 | In-frame |
| ENST00000402673 | 134620933 | 134621052 | In-frame |
| ENST00000439578 | 134620933 | 134621052 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SAR1B |
p-ENSG00000152700_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000402673 | 6699 | 198 | 134620933 | 134621052 | 338 | 456 | 19 | 59 |
| ENST00000439578 | 946 | 198 | 134620933 | 134621052 | 243 | 361 | 19 | 59 |
| ENST00000402673 | 6699 | 198 | 134612691 | 134612756 | 458 | 522 | 59 | 81 |
| ENST00000439578 | 946 | 198 | 134612691 | 134612756 | 363 | 427 | 59 | 81 |
| Loci of skipped exons in MSBB 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 Mayo 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 |
| ENST00000402673 | 6699 | 198 | 134620933 | 134621052 | 338 | 456 | 19 | 59 |
| ENST00000439578 | 946 | 198 | 134620933 | 134621052 | 243 | 361 | 19 | 59 |
| ENST00000402673 | 6699 | 198 | 134612691 | 134612756 | 458 | 522 | 59 | 81 |
| ENST00000439578 | 946 | 198 | 134612691 | 134612756 | 363 | 427 | 59 | 81 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q9Y6B6 | 19 | 59 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 19 | 59 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 19 | 59 | 34 | 34 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 19 | 59 | 34 | 34 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 19 | 59 | 37 | 37 | Natural variant | ID=VAR_016806;Note=In CMRD%3B loss of GDP/GTP-binding. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12692552;Dbxref=dbSNP:rs121917846,PMID:12692552 |
| Q9Y6B6 | 19 | 59 | 37 | 37 | Natural variant | ID=VAR_016806;Note=In CMRD%3B loss of GDP/GTP-binding. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12692552;Dbxref=dbSNP:rs121917846,PMID:12692552 |
| Q9Y6B6 | 19 | 59 | 32 | 39 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 19 | 59 | 32 | 39 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 59 | 81 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Natural variant | ID=VAR_059052;Note=In CMRD. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19274794;Dbxref=dbSNP:rs1254114609,PMID:19274794 |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Natural variant | ID=VAR_059052;Note=In CMRD. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19274794;Dbxref=dbSNP:rs1254114609,PMID:19274794 |
| Q9Y6B6 | 59 | 81 | 75 | 78 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 75 | 78 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| Q9Y6B6 | 19 | 59 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 19 | 59 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 19 | 59 | 34 | 34 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 19 | 59 | 34 | 34 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 19 | 59 | 37 | 37 | Natural variant | ID=VAR_016806;Note=In CMRD%3B loss of GDP/GTP-binding. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12692552;Dbxref=dbSNP:rs121917846,PMID:12692552 |
| Q9Y6B6 | 19 | 59 | 37 | 37 | Natural variant | ID=VAR_016806;Note=In CMRD%3B loss of GDP/GTP-binding. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12692552;Dbxref=dbSNP:rs121917846,PMID:12692552 |
| Q9Y6B6 | 19 | 59 | 32 | 39 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 19 | 59 | 32 | 39 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 59 | 81 | 1 | 198 | Chain | ID=PRO_0000206261;Note=GTP-binding protein SAR1b |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Metal binding | Note=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Natural variant | ID=VAR_059052;Note=In CMRD. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19274794;Dbxref=dbSNP:rs1254114609,PMID:19274794 |
| Q9Y6B6 | 59 | 81 | 75 | 75 | Natural variant | ID=VAR_059052;Note=In CMRD. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19274794;Dbxref=dbSNP:rs1254114609,PMID:19274794 |
| Q9Y6B6 | 59 | 81 | 75 | 78 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9Y6B6 | 59 | 81 | 75 | 78 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SAR1B |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000439578 | 134632077 | 134632195 | hsa-miR-1976 | chr5:134632106-134632113 | 8mer-1a | chr5:134632093-134632113 | 149.00 | -24.39 |
| Mayo | ENST00000439578 | 134632077 | 134632195 | hsa-miR-6747-3p | chr5:134632104-134632111 | 8mer-1a | chr5:134632093-134632113 | 149.00 | -24.39 |
| Mayo | ENST00000439578 | 134632077 | 134632195 | hsa-miR-642a-5p | chr5:134632185-134632192 | 8mer-1a | chr5:134632173-134632194 | 144.00 | -16.86 |
| Mayo | ENST00000439578 | 134632077 | 134632195 | hsa-miR-4795-5p | chr5:134632160-134632167 | 8mer-1a | chr5:134632158-134632176 | 163.00 | -28.61 |
| Mayo | ENST00000439578 | 134632077 | 134632195 | hsa-miR-3655 | chr5:134632180-134632187 | 8mer-1a | chr5:134632169-134632187 | 155.00 | -23.97 |
| Mayo | ENST00000439578 | 134632077 | 134632195 | hsa-miR-4638-5p | chr5:134632147-134632154 | 8mer-1a | chr5:134632142-134632164 | 152.00 | -18.29 |
| MSBB | ENST00000439578 | 134632077 | 134632195 | hsa-miR-1976 | chr5:134632106-134632113 | 8mer-1a | chr5:134632093-134632113 | 149.00 | -24.39 |
| MSBB | ENST00000439578 | 134632077 | 134632195 | hsa-miR-6747-3p | chr5:134632104-134632111 | 8mer-1a | chr5:134632093-134632113 | 149.00 | -24.39 |
| MSBB | ENST00000439578 | 134632077 | 134632195 | hsa-miR-642a-5p | chr5:134632185-134632192 | 8mer-1a | chr5:134632173-134632194 | 144.00 | -16.86 |
| MSBB | ENST00000439578 | 134632077 | 134632195 | hsa-miR-4795-5p | chr5:134632160-134632167 | 8mer-1a | chr5:134632158-134632176 | 163.00 | -28.61 |
| MSBB | ENST00000439578 | 134632077 | 134632195 | hsa-miR-3655 | chr5:134632180-134632187 | 8mer-1a | chr5:134632169-134632187 | 155.00 | -23.97 |
| MSBB | ENST00000439578 | 134632077 | 134632195 | hsa-miR-4638-5p | chr5:134632147-134632154 | 8mer-1a | chr5:134632142-134632164 | 152.00 | -18.29 |
| ROSMAP | ENST00000439578 | 134632077 | 134632195 | hsa-miR-1976 | chr5:134632106-134632113 | 8mer-1a | chr5:134632093-134632113 | 149.00 | -24.39 |
| ROSMAP | ENST00000439578 | 134632077 | 134632195 | hsa-miR-6747-3p | chr5:134632104-134632111 | 8mer-1a | chr5:134632093-134632113 | 149.00 | -24.39 |
| ROSMAP | ENST00000439578 | 134632077 | 134632195 | hsa-miR-642a-5p | chr5:134632185-134632192 | 8mer-1a | chr5:134632173-134632194 | 144.00 | -16.86 |
| ROSMAP | ENST00000439578 | 134632077 | 134632195 | hsa-miR-4795-5p | chr5:134632160-134632167 | 8mer-1a | chr5:134632158-134632176 | 163.00 | -28.61 |
| ROSMAP | ENST00000439578 | 134632077 | 134632195 | hsa-miR-3655 | chr5:134632180-134632187 | 8mer-1a | chr5:134632169-134632187 | 155.00 | -23.97 |
| ROSMAP | ENST00000439578 | 134632077 | 134632195 | hsa-miR-4638-5p | chr5:134632147-134632154 | 8mer-1a | chr5:134632142-134632164 | 152.00 | -18.29 |
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SNVs in the skipped exons for SAR1B |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for SAR1B |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAR1B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_196549 | rs329302 | chr5:134541987 | 4.340804e-05 | 8.350669e-03 |
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Correlation with RNA binding proteins (RBPs) for SAR1B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SAR1B |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SAR1B |
| 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)
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