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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 AVL9 |
 Gene summary |
| Gene information | Gene symbol | AVL9 | Gene ID | 23080 |
| Gene name | AVL9 cell migration associated | |
| Synonyms | KIAA0241 | |
| Cytomap | 7p14.3 | |
| Type of gene | protein-coding | |
| Description | late secretory pathway protein AVL9 homologAVL9 homolog (S. cerevisiase) | |
| 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 |
| AVL9 | GO:0016477 | cell migration | 22595670 |
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Gene structures and expression levels for AVL9 |
| 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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ENSG00000105778
| 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 |
| PG | DOWN | ENST00000467779.1 | AVL9-205:retained_intron:AVL9 | 5.224454e+00 | -1.215463e+00 | 3.199757e-03 | 3.330010e-02 |
| 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 AVL9 |
| 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_104889 | chr7 | 32495564:32495802:32543141:32543261:32544694:32544779 | 32543141:32543261 |
| exon_skip_107398 | chr7 | 32573203:32573418:32575955:32576072:32580802:32580890 | 32575955:32576072 |
| exon_skip_133477 | chr7 | 32544694:32544779:32548847:32548918:32551334:32551423 | 32548847:32548918 |
| exon_skip_142828 | chr7 | 32544722:32544779:32548847:32548918:32551334:32551423 | 32548847:32548918 |
| exon_skip_221377 | chr7 | 32573199:32573418:32575955:32576072:32580802:32580890 | 32575955:32576072 |
| exon_skip_254538 | chr7 | 32543255:32543261:32544694:32544779:32548847:32548918 | 32544694:32544779 |
| exon_skip_43675 | chr7 | 32573199:32573418:32575955:32576072:32580219:32580272 | 32575955:32576072 |
| exon_skip_48839 | chr7 | 32559223:32559464:32570020:32570154:32573199:32573418 | 32570020:32570154 |
| exon_skip_69281 | chr7 | 32575955:32576072:32580219:32580272:32580802:32580890 | 32580219:32580272 |
| 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 AVL9 |
| 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 |
| ENST00000318709 | 32543141 | 32543261 | Frame-shift |
| ENST00000318709 | 32544694 | 32544779 | Frame-shift |
| ENST00000318709 | 32575955 | 32576072 | Frame-shift |
| ENST00000318709 | 32548847 | 32548918 | In-frame |
| ENST00000318709 | 32570020 | 32570154 | In-frame |
| ENST00000318709 | 32580219 | 32580272 | 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 |
| ENST00000318709 | 32543141 | 32543261 | Frame-shift |
| ENST00000318709 | 32544694 | 32544779 | Frame-shift |
| ENST00000318709 | 32575955 | 32576072 | Frame-shift |
| ENST00000318709 | 32548847 | 32548918 | In-frame |
| ENST00000318709 | 32570020 | 32570154 | In-frame |
| ENST00000318709 | 32580219 | 32580272 | In-frame |
| 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 |
| ENST00000318709 | 32543141 | 32543261 | Frame-shift |
| ENST00000318709 | 32544694 | 32544779 | Frame-shift |
| ENST00000318709 | 32575955 | 32576072 | Frame-shift |
| ENST00000318709 | 32548847 | 32548918 | In-frame |
| ENST00000318709 | 32570020 | 32570154 | In-frame |
| ENST00000318709 | 32580219 | 32580272 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AVL9 |
p-ENSG00000105778_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 |
| ENST00000318709 | 6999 | 648 | 32548847 | 32548918 | 523 | 593 | 100 | 124 |
| ENST00000318709 | 6999 | 648 | 32570020 | 32570154 | 1438 | 1571 | 405 | 450 |
| ENST00000318709 | 6999 | 648 | 32580219 | 32580272 | 1911 | 1963 | 563 | 580 |
| 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 |
| ENST00000318709 | 6999 | 648 | 32548847 | 32548918 | 523 | 593 | 100 | 124 |
| ENST00000318709 | 6999 | 648 | 32570020 | 32570154 | 1438 | 1571 | 405 | 450 |
| ENST00000318709 | 6999 | 648 | 32580219 | 32580272 | 1911 | 1963 | 563 | 580 |
| 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 |
| ENST00000318709 | 6999 | 648 | 32548847 | 32548918 | 523 | 593 | 100 | 124 |
| ENST00000318709 | 6999 | 648 | 32570020 | 32570154 | 1438 | 1571 | 405 | 450 |
| ENST00000318709 | 6999 | 648 | 32580219 | 32580272 | 1911 | 1963 | 563 | 580 |
| 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 |
| Q8NBF6 | 100 | 124 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 100 | 124 | 17 | 161 | Domain | Note=uDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8NBF6 | 405 | 450 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 405 | 450 | 342 | 593 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8NBF6 | 563 | 580 | 524 | 589 | Alternative sequence | ID=VSP_019943;Note=In isoform 2. DNEKILSDYGTTFVTAWKNTHNYRVWNSNKHPALAEINPNHPFQGQYSVSDMKLRFSHSVQNSERG->VLFRIVNVA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9039502;Dbxref=PMID:9039502 |
| Q8NBF6 | 563 | 580 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 563 | 580 | 342 | 593 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| 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 |
| Q8NBF6 | 100 | 124 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 100 | 124 | 17 | 161 | Domain | Note=uDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8NBF6 | 405 | 450 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 405 | 450 | 342 | 593 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8NBF6 | 563 | 580 | 524 | 589 | Alternative sequence | ID=VSP_019943;Note=In isoform 2. DNEKILSDYGTTFVTAWKNTHNYRVWNSNKHPALAEINPNHPFQGQYSVSDMKLRFSHSVQNSERG->VLFRIVNVA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9039502;Dbxref=PMID:9039502 |
| Q8NBF6 | 563 | 580 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 563 | 580 | 342 | 593 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| 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 |
| Q8NBF6 | 100 | 124 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 100 | 124 | 17 | 161 | Domain | Note=uDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8NBF6 | 405 | 450 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 405 | 450 | 342 | 593 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
| Q8NBF6 | 563 | 580 | 524 | 589 | Alternative sequence | ID=VSP_019943;Note=In isoform 2. DNEKILSDYGTTFVTAWKNTHNYRVWNSNKHPALAEINPNHPFQGQYSVSDMKLRFSHSVQNSERG->VLFRIVNVA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9039502;Dbxref=PMID:9039502 |
| Q8NBF6 | 563 | 580 | 1 | 648 | Chain | ID=PRO_0000247178;Note=Late secretory pathway protein AVL9 homolog |
| Q8NBF6 | 563 | 580 | 342 | 593 | Domain | Note=dDENN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00304 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AVL9 |
| 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 |
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SNVs in the skipped exons for AVL9 |
| - 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 AVL9 |
| 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 AVL9 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AVL9 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_43675 | -4.460446e-01 | 3.329838e-08 |
| CB | CNOT4 | exon_skip_43675 | -5.493203e-01 | 2.094678e-12 |
| CB | RBM3 | exon_skip_43675 | 5.156189e-01 | 7.068468e-11 |
| CB | PCBP1 | exon_skip_43675 | -5.158320e-01 | 6.921232e-11 |
| CB | TRA2A | exon_skip_43675 | -5.760523e-01 | 9.585859e-14 |
| CB | FUBP1 | exon_skip_43675 | -4.144757e-01 | 3.560772e-07 |
| CB | NUP42 | exon_skip_43675 | 5.021437e-01 | 2.599499e-10 |
| IFG | NOVA1 | exon_skip_69281 | 6.099001e-01 | 7.311774e-04 |
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RelatedDrugs for AVL9 |
| 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 AVL9 |
| 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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