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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for SNX19 |
Gene summary |
Gene information | Gene symbol | SNX19 | Gene ID | 399979 |
Gene name | sorting nexin 19 | |
Synonyms | CHET8 | |
Cytomap | 11q24.3-q25 | |
Type of gene | protein-coding | |
Description | sorting nexin-19 | |
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 SNX19 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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 SNX19 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_108661 | chr11 | 130879624:130879711:130880622:130880806:130903255:130903384 | 130880622:130880806 |
exon_skip_130945 | chr11 | 130911633:130911771:130914694:130914749:130916280:130916444 | 130914694:130914749 |
exon_skip_182805 | chr11 | 130905953:130906133:130906625:130906721:130910018:130910137 | 130906625:130906721 |
exon_skip_192789 | chr11 | 130906625:130906721:130907953:130908083:130910018:130910137 | 130907953:130908083 |
exon_skip_2364 | chr11 | 130907953:130908083:130910018:130910137:130910270:130910370 | 130910018:130910137 |
exon_skip_261946 | chr11 | 130905953:130906133:130906625:130906721:130907953:130908083 | 130906625:130906721 |
exon_skip_32249 | chr11 | 130910308:130910370:130911451:130911771:130916280:130916444 | 130911451:130911771 |
exon_skip_77373 | chr11 | 130910308:130910370:130911633:130911771:130916280:130916444 | 130911633:130911771 |
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 SNX19 |
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 |
ENST00000265909 | 130880622 | 130880806 | Frame-shift |
ENST00000265909 | 130906625 | 130906721 | Frame-shift |
ENST00000265909 | 130907953 | 130908083 | Frame-shift |
ENST00000265909 | 130910018 | 130910137 | 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 |
ENST00000265909 | 130880622 | 130880806 | Frame-shift |
ENST00000265909 | 130907953 | 130908083 | Frame-shift |
ENST00000265909 | 130910018 | 130910137 | 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 |
ENST00000265909 | 130880622 | 130880806 | Frame-shift |
ENST00000265909 | 130907953 | 130908083 | Frame-shift |
ENST00000265909 | 130910018 | 130910137 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SNX19 |
p-ENSG00000120451_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 |
ENST00000265909 | 6552 | 992 | 130910018 | 130910137 | 2485 | 2603 | 638 | 677 |
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 |
ENST00000265909 | 6552 | 992 | 130910018 | 130910137 | 2485 | 2603 | 638 | 677 |
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 |
ENST00000265909 | 6552 | 992 | 130910018 | 130910137 | 2485 | 2603 | 638 | 677 |
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 |
Q92543 | 638 | 677 | 1 | 992 | Chain | ID=PRO_0000213868;Note=Sorting nexin-19 |
Q92543 | 638 | 677 | 533 | 663 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
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 |
Q92543 | 638 | 677 | 1 | 992 | Chain | ID=PRO_0000213868;Note=Sorting nexin-19 |
Q92543 | 638 | 677 | 533 | 663 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
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 |
Q92543 | 638 | 677 | 1 | 992 | Chain | ID=PRO_0000213868;Note=Sorting nexin-19 |
Q92543 | 638 | 677 | 533 | 663 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SNX19 |
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 SNX19 |
- 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 SNX19 |
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 SNX19 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_108661 | rs948085 | chr11:130882672 | 7.712843e-28 | 3.266081e-23 |
CB | exon_skip_108661 | rs1865298 | chr11:130905887 | 6.279305e-21 | 4.526016e-17 |
CB | exon_skip_108661 | rs11222341 | chr11:130835758 | 6.078689e-15 | 1.410456e-11 |
CB | exon_skip_108661 | rs4937576 | chr11:130832297 | 4.310120e-05 | 8.680920e-03 |
CB | exon_skip_2364 | rs3751039 | chr11:130903181 | 1.151898e-04 | 1.930857e-02 |
CB | exon_skip_108661 | rs4937577 | chr11:130832326 | 1.386851e-04 | 2.236177e-02 |
CB | exon_skip_108661 | rs7107595 | chr11:130888661 | 2.152759e-04 | 3.172187e-02 |
CB | exon_skip_108661 | rs3190331 | chr11:130878236 | 2.156860e-04 | 3.176848e-02 |
TC | exon_skip_108661 | rs948085 | chr11:130882672 | 1.399589e-24 | 1.378043e-20 |
TC | exon_skip_108661 | rs1865298 | chr11:130905887 | 3.469091e-20 | 2.206116e-16 |
TC | exon_skip_108661 | rs11222341 | chr11:130835758 | 9.455815e-08 | 4.201288e-05 |
TC | exon_skip_108661 | rs7107595 | chr11:130888661 | 9.512440e-06 | 2.366178e-03 |
TC | exon_skip_108661 | rs3190331 | chr11:130878236 | 1.313160e-05 | 3.114952e-03 |
TC | exon_skip_108661 | rs3751039 | chr11:130903181 | 5.377124e-05 | 1.002527e-02 |
TC | exon_skip_108661 | rs1991899 | chr11:130931754 | 1.024846e-04 | 1.669731e-02 |
HCC | exon_skip_108661 | rs948085 | chr11:130882672 | 1.526349e-41 | 8.107943e-37 |
HCC | exon_skip_108661 | rs1893225 | chr11:130931501 | 4.710518e-25 | 1.233489e-21 |
HCC | exon_skip_108661 | rs3794132 | chr11:130897857 | 8.195616e-21 | 1.214123e-17 |
HCC | exon_skip_108661 | rs11222341 | chr11:130835758 | 7.229800e-18 | 7.509278e-15 |
HCC | exon_skip_108661 | rs3794139 | chr11:130897163 | 1.865724e-16 | 1.548547e-13 |
HCC | exon_skip_108661 | rs3829270 | chr11:130897560 | 1.865724e-16 | 1.548547e-13 |
HCC | exon_skip_108661 | rs10894280 | chr11:130905561 | 1.865724e-16 | 1.548547e-13 |
HCC | exon_skip_108661 | rs10894281 | chr11:130905584 | 1.865724e-16 | 1.548547e-13 |
HCC | exon_skip_108661 | rs10894277 | chr11:130893559 | 5.890663e-16 | 4.670316e-13 |
HCC | exon_skip_108661 | rs3198419 | chr11:130905793 | 6.827236e-16 | 5.378459e-13 |
HCC | exon_skip_108661 | rs6421609 | chr11:130892162 | 4.901221e-15 | 3.432138e-12 |
HCC | exon_skip_108661 | rs10791097 | chr11:130848735 | 8.675089e-09 | 2.156241e-06 |
HCC | exon_skip_108661 | rs6590512 | chr11:130848021 | 1.737961e-08 | 4.082386e-06 |
HCC | exon_skip_108661 | rs647516 | chr11:130871180 | 3.092829e-07 | 5.612662e-05 |
HCC | exon_skip_108661 | rs7107595 | chr11:130888661 | 4.894672e-07 | 8.572915e-05 |
HCC | exon_skip_108661 | rs4436551 | chr11:130885844 | 9.037336e-07 | 1.489554e-04 |
HCC | exon_skip_108661 | rs1050071 | chr11:130877336 | 9.104126e-07 | 1.496139e-04 |
HCC | exon_skip_108661 | rs3190331 | chr11:130878236 | 9.104126e-07 | 1.496139e-04 |
HCC | exon_skip_108661 | rs3751039 | chr11:130903181 | 2.120201e-06 | 3.208682e-04 |
HCC | exon_skip_108661 | rs6590518 | chr11:130863635 | 3.162334e-06 | 4.543583e-04 |
HCC | exon_skip_108661 | rs7119425 | chr11:130863290 | 3.162334e-06 | 4.543583e-04 |
HCC | exon_skip_108661 | rs6590515 | chr11:130863470 | 3.162334e-06 | 4.543583e-04 |
HCC | exon_skip_108661 | rs6590517 | chr11:130863610 | 3.162334e-06 | 4.543583e-04 |
HCC | exon_skip_108661 | rs7943757 | chr11:130846262 | 7.476076e-06 | 9.778040e-04 |
HCC | exon_skip_108661 | rs4936121 | chr11:130863983 | 1.221035e-05 | 1.494006e-03 |
HCC | exon_skip_108661 | rs10791109 | chr11:130980482 | 1.329273e-05 | 1.613171e-03 |
HCC | exon_skip_108661 | rs10894294 | chr11:130960853 | 1.370029e-05 | 1.656145e-03 |
HCC | exon_skip_108661 | rs4622274 | chr11:130859591 | 1.463313e-05 | 1.755078e-03 |
HCC | exon_skip_108661 | rs1991899 | chr11:130931754 | 2.517929e-05 | 2.808231e-03 |
HCC | exon_skip_108661 | rs10894272 | chr11:130861186 | 2.839517e-05 | 3.113663e-03 |
HCC | exon_skip_108661 | rs12365680 | chr11:130879164 | 5.311896e-05 | 5.315313e-03 |
HCC | exon_skip_108661 | rs10894287 | chr11:130938588 | 6.171566e-05 | 6.064559e-03 |
HCC | exon_skip_108661 | rs7116068 | chr11:130862844 | 6.547516e-05 | 6.383381e-03 |
HCC | exon_skip_108661 | rs2162059 | chr11:130961329 | 8.094386e-05 | 7.653390e-03 |
HCC | exon_skip_108661 | rs4937576 | chr11:130832297 | 1.226124e-04 | 1.090720e-02 |
HCC | exon_skip_108661 | rs750129 | chr11:130830716 | 1.656827e-04 | 1.393149e-02 |
HCC | exon_skip_108661 | rs7111143 | chr11:130889029 | 2.865798e-04 | 2.172066e-02 |
HCC | exon_skip_108661 | rs10894293 | chr11:130954318 | 3.203194e-04 | 2.380681e-02 |
HCC | exon_skip_108661 | rs4937577 | chr11:130832326 | 4.218020e-04 | 2.955503e-02 |
PCC | exon_skip_108661 | rs948085 | chr11:130882672 | 6.282207e-22 | 4.468743e-18 |
PCC | exon_skip_108661 | rs1893225 | chr11:130931501 | 6.896846e-15 | 1.770571e-11 |
PCC | exon_skip_108661 | rs3794132 | chr11:130897857 | 8.020176e-13 | 1.291702e-09 |
PCC | exon_skip_108661 | rs11222341 | chr11:130835758 | 4.920972e-12 | 6.694090e-09 |
PCC | exon_skip_108661 | rs3794139 | chr11:130897163 | 1.000178e-09 | 7.265971e-07 |
PCC | exon_skip_108661 | rs3829270 | chr11:130897560 | 1.000178e-09 | 7.265971e-07 |
PCC | exon_skip_108661 | rs10894280 | chr11:130905561 | 1.000178e-09 | 7.265971e-07 |
PCC | exon_skip_108661 | rs10894281 | chr11:130905584 | 1.000178e-09 | 7.265971e-07 |
PCC | exon_skip_108661 | rs3198419 | chr11:130905793 | 2.777971e-09 | 1.824059e-06 |
PCC | exon_skip_108661 | rs10894277 | chr11:130893559 | 1.411785e-08 | 8.047410e-06 |
PCC | exon_skip_108661 | rs6421609 | chr11:130892162 | 4.743287e-08 | 2.424473e-05 |
PCC | exon_skip_108661 | rs10894294 | chr11:130960853 | 9.212805e-07 | 3.187052e-04 |
PCC | exon_skip_108661 | rs4937576 | chr11:130832297 | 3.177041e-06 | 9.465696e-04 |
PCC | exon_skip_108661 | rs10791097 | chr11:130848735 | 8.791003e-06 | 2.268783e-03 |
PCC | exon_skip_108661 | rs6590512 | chr11:130848021 | 9.843709e-06 | 2.506365e-03 |
PCC | exon_skip_108661 | rs10791109 | chr11:130980482 | 1.607503e-05 | 3.835541e-03 |
PCC | exon_skip_108661 | rs4937577 | chr11:130832326 | 3.282281e-05 | 7.008768e-03 |
PCC | exon_skip_108661 | rs7943757 | chr11:130846262 | 3.755582e-05 | 7.833268e-03 |
PCC | exon_skip_108661 | rs2162059 | chr11:130961329 | 8.961777e-05 | 1.579716e-02 |
PCC | exon_skip_108661 | rs647516 | chr11:130871180 | 9.895861e-05 | 1.716452e-02 |
PCC | exon_skip_108661 | rs10894287 | chr11:130938588 | 1.069354e-04 | 1.820141e-02 |
PCC | exon_skip_108661 | rs1991899 | chr11:130931754 | 2.839019e-04 | 3.927694e-02 |
PCC | exon_skip_108661 | rs7107595 | chr11:130888661 | 3.675286e-04 | 4.773259e-02 |
DLPFC | exon_skip_108661 | rs948085 | chr11:130882672 | 2.279533e-32 | 9.287317e-29 |
DLPFC | exon_skip_108661 | rs3794132 | chr11:130897857 | 2.082992e-20 | 2.467726e-17 |
DLPFC | exon_skip_108661 | rs11222341 | chr11:130835758 | 2.110849e-20 | 2.483117e-17 |
DLPFC | exon_skip_108661 | rs1893225 | chr11:130931501 | 3.881388e-20 | 4.410604e-17 |
DLPFC | exon_skip_108661 | rs3794139 | chr11:130897163 | 1.757789e-16 | 1.346910e-13 |
DLPFC | exon_skip_108661 | rs3829270 | chr11:130897560 | 1.757789e-16 | 1.346910e-13 |
DLPFC | exon_skip_108661 | rs10894280 | chr11:130905561 | 1.757789e-16 | 1.346910e-13 |
DLPFC | exon_skip_108661 | rs10894281 | chr11:130905584 | 1.757789e-16 | 1.346910e-13 |
DLPFC | exon_skip_108661 | rs3198419 | chr11:130905793 | 2.720873e-16 | 2.020012e-13 |
DLPFC | exon_skip_108661 | rs10894277 | chr11:130893559 | 6.633896e-16 | 4.617274e-13 |
DLPFC | exon_skip_108661 | rs6421609 | chr11:130892162 | 6.223807e-15 | 3.753226e-12 |
DLPFC | exon_skip_108661 | rs10791097 | chr11:130848735 | 6.436170e-07 | 9.899790e-05 |
DLPFC | exon_skip_108661 | rs6590512 | chr11:130848021 | 9.104101e-07 | 1.365167e-04 |
DLPFC | exon_skip_108661 | rs4937576 | chr11:130832297 | 1.774486e-06 | 2.427646e-04 |
DLPFC | exon_skip_108661 | rs647516 | chr11:130871180 | 2.440189e-06 | 3.240195e-04 |
DLPFC | exon_skip_108661 | rs4937577 | chr11:130832326 | 6.660482e-06 | 7.829605e-04 |
DLPFC | exon_skip_108661 | rs7943757 | chr11:130846262 | 8.255259e-06 | 9.484066e-04 |
DLPFC | exon_skip_108661 | rs4436551 | chr11:130885844 | 1.063494e-05 | 1.194337e-03 |
DLPFC | exon_skip_108661 | rs7107595 | chr11:130888661 | 1.409081e-05 | 1.521507e-03 |
DLPFC | exon_skip_108661 | rs7119425 | chr11:130863290 | 1.721588e-05 | 1.809812e-03 |
DLPFC | exon_skip_108661 | rs6590515 | chr11:130863470 | 1.721588e-05 | 1.809812e-03 |
DLPFC | exon_skip_108661 | rs6590517 | chr11:130863610 | 1.721588e-05 | 1.809812e-03 |
DLPFC | exon_skip_108661 | rs6590518 | chr11:130863635 | 1.721588e-05 | 1.809812e-03 |
DLPFC | exon_skip_108661 | rs1050071 | chr11:130877336 | 1.919896e-05 | 1.998163e-03 |
DLPFC | exon_skip_108661 | rs3190331 | chr11:130878236 | 1.919896e-05 | 1.998163e-03 |
DLPFC | exon_skip_108661 | rs3751039 | chr11:130903181 | 4.807161e-05 | 4.476046e-03 |
DLPFC | exon_skip_108661 | rs4936121 | chr11:130863983 | 5.384850e-05 | 4.950204e-03 |
DLPFC | exon_skip_108661 | rs7111143 | chr11:130889029 | 7.500740e-05 | 6.590984e-03 |
DLPFC | exon_skip_108661 | rs12364918 | chr11:130871520 | 9.122412e-05 | 7.814539e-03 |
DLPFC | exon_skip_108661 | rs10894293 | chr11:130954318 | 9.816373e-05 | 8.315195e-03 |
DLPFC | exon_skip_108661 | rs4622274 | chr11:130859591 | 1.154136e-04 | 9.553538e-03 |
DLPFC | exon_skip_108661 | rs10894272 | chr11:130861186 | 1.154136e-04 | 9.553538e-03 |
DLPFC | exon_skip_108661 | rs10894287 | chr11:130938588 | 1.361039e-04 | 1.100978e-02 |
DLPFC | exon_skip_108661 | rs10894294 | chr11:130960853 | 1.397867e-04 | 1.126406e-02 |
DLPFC | exon_skip_108661 | rs2162059 | chr11:130961329 | 1.487005e-04 | 1.191337e-02 |
DLPFC | exon_skip_108661 | rs1991899 | chr11:130931754 | 1.794768e-04 | 1.397685e-02 |
DLPFC | exon_skip_108661 | rs10791109 | chr11:130980482 | 2.408949e-04 | 1.799633e-02 |
DLPFC | exon_skip_108661 | rs12419710 | chr11:130838436 | 3.245325e-04 | 2.293185e-02 |
DLPFC | exon_skip_108661 | rs11600182 | chr11:130908615 | 3.734714e-04 | 2.559942e-02 |
DLPFC | exon_skip_108661 | rs3751035 | chr11:130915310 | 3.734714e-04 | 2.559942e-02 |
DLPFC | exon_skip_108661 | rs11222385 | chr11:130909157 | 4.606417e-04 | 3.021082e-02 |
DLPFC | exon_skip_108661 | rs11222386 | chr11:130909173 | 4.606417e-04 | 3.021082e-02 |
DLPFC | exon_skip_108661 | rs7116068 | chr11:130862844 | 4.963808e-04 | 3.212933e-02 |
DLPFC | exon_skip_108661 | rs12365680 | chr11:130879164 | 6.379207e-04 | 3.916522e-02 |
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Correlation with RNA binding proteins (RBPs) for SNX19 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SNX19 |
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 SNX19 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |