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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for SLC25A19

check button Gene summary
Gene informationGene symbol

SLC25A19

Gene ID

60386

Gene namesolute carrier family 25 member 19
SynonymsDNC|MCPHA|MUP1|THMD3|THMD4|TPC
Cytomap

17q25.1

Type of geneprotein-coding
Descriptionmitochondrial thiamine pyrophosphate carriermitochondrial uncoupling protein 1solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Modification date20200313
UniProtAcc

J3KRY6,

J3KS44,

J3KSB1,

J3KSI7,

J3KTL0,

J3QL84,

J3QLV3,

J3QS02,

Q5JPC1,

Q9HC21,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Gene structures and expression levels for SLC25A19

check buttonSkipped 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.
all structure

ENSG00000125454
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
TCDOWNENST00000582822.1SLC25A19-213:protein_coding:SLC25A197.507088e+00-8.137777e-017.910048e-048.242365e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SLC25A19

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_121988chr1775286304:75286459:75286633:75286802:75289354:7528951075286633:75286802
exon_skip_158612chr1775278238:75278335:75283423:75283593:75286304:7528645975283423:75283593
exon_skip_192067chr1775286647:75286802:75288388:75288591:75289354:7528938675288388:75288591
exon_skip_251225chr1775286647:75286802:75288498:75288591:75289089:7528921275288498:75288591
exon_skip_254069chr1775286400:75286459:75286633:75286802:75289354:7528938675286633:75286802
exon_skip_27368chr1775286647:75286802:75288502:75288591:75289354:7528938675288502:75288591
exon_skip_27808chr1775286647:75286802:75288388:75288461:75289089:7528921275288388:75288461
exon_skip_285737chr1775273551:75273639:75277353:75277483:75278152:7527833575277353:75277483
exon_skip_285742chr1775286647:75286802:75288502:75288591:75289089:7528921275288502:75288591
exon_skip_293071chr1775286647:75286802:75288388:75288461:75289354:7528938675288388:75288461
exon_skip_67749chr1775277353:75277483:75278152:75278335:75283423:7528359375278152:75278335
exon_skip_97089chr1775288388:75288461:75288554:75288591:75289354:7528938675288554:75288591

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for SLC25A19

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000044228675286633752868023UTR-3CDS
ENST0000058099475288388752884613UTR-3UTR
ENST0000041685875288502752885913UTR-3UTR
ENST0000032036275288554752885913UTR-3UTR
ENST000003203627527815275278335Frame-shift
ENST000004024187527815275278335Frame-shift
ENST000004168587527815275278335Frame-shift
ENST000004422867527815275278335Frame-shift
ENST000005809947527815275278335Frame-shift
ENST000003203627528342375283593In-frame
ENST000004024187528342375283593In-frame
ENST000004168587528342375283593In-frame
ENST000004422867528342375283593In-frame
ENST000005809947528342375283593In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000044228675286633752868023UTR-3CDS
ENST0000058099475288388752884613UTR-3UTR
ENST0000041685875288502752885913UTR-3UTR

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000044228675286633752868023UTR-3CDS
ENST0000058099475288388752884613UTR-3UTR
ENST0000041685875288502752885913UTR-3UTR
ENST000003203627527735375277483Frame-shift
ENST000004024187527735375277483Frame-shift
ENST000004168587527735375277483Frame-shift
ENST000004422867527735375277483Frame-shift
ENST000005809947527735375277483Frame-shift
ENST000003203627527815275278335Frame-shift
ENST000004024187527815275278335Frame-shift
ENST000004168587527815275278335Frame-shift
ENST000004422867527815275278335Frame-shift
ENST000005809947527815275278335Frame-shift

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Infer the effects of exon skipping event on protein functional features for SLC25A19

p-ENSG00000125454_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003203621668320752834237528359351968896152
ENST00000402418234832075283423752835931199136896152
ENST000004168581604320752834237528359345462396152
ENST000004422861513320752834237528359336453396152
ENST000005809941571320752834237528359345962896152

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button 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 featureDescription of feature
Q9HC219615297153Alternative sequenceID=VSP_053908;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q9HC219615297153Alternative sequenceID=VSP_053908;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q9HC219615297153Alternative sequenceID=VSP_053908;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q9HC219615297153Alternative sequenceID=VSP_053908;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q9HC219615297153Alternative sequenceID=VSP_053908;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
Q9HC21961521320ChainID=PRO_0000090611;Note=Mitochondrial thiamine pyrophosphate carrier
Q9HC21961521320ChainID=PRO_0000090611;Note=Mitochondrial thiamine pyrophosphate carrier
Q9HC21961521320ChainID=PRO_0000090611;Note=Mitochondrial thiamine pyrophosphate carrier
Q9HC21961521320ChainID=PRO_0000090611;Note=Mitochondrial thiamine pyrophosphate carrier
Q9HC21961521320ChainID=PRO_0000090611;Note=Mitochondrial thiamine pyrophosphate carrier
Q9HC2196152125125Natural variantID=VAR_065125;Note=In THMD4%3B affects function as shown by complementation studies in yeast. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19798730;Dbxref=dbSNP:rs387906944,PMID:19798730
Q9HC2196152125125Natural variantID=VAR_065125;Note=In THMD4%3B affects function as shown by complementation studies in yeast. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19798730;Dbxref=dbSNP:rs387906944,PMID:19798730
Q9HC2196152125125Natural variantID=VAR_065125;Note=In THMD4%3B affects function as shown by complementation studies in yeast. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19798730;Dbxref=dbSNP:rs387906944,PMID:19798730
Q9HC2196152125125Natural variantID=VAR_065125;Note=In THMD4%3B affects function as shown by complementation studies in yeast. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19798730;Dbxref=dbSNP:rs387906944,PMID:19798730
Q9HC2196152125125Natural variantID=VAR_065125;Note=In THMD4%3B affects function as shown by complementation studies in yeast. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19798730;Dbxref=dbSNP:rs387906944,PMID:19798730
Q9HC219615213106RepeatNote=Solcar 1
Q9HC219615213106RepeatNote=Solcar 1
Q9HC219615213106RepeatNote=Solcar 1
Q9HC219615213106RepeatNote=Solcar 1
Q9HC219615213106RepeatNote=Solcar 1
Q9HC2196152116202RepeatNote=Solcar 2
Q9HC2196152116202RepeatNote=Solcar 2
Q9HC2196152116202RepeatNote=Solcar 2
Q9HC2196152116202RepeatNote=Solcar 2
Q9HC2196152116202RepeatNote=Solcar 2
Q9HC219615287107TransmembraneNote=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC219615287107TransmembraneNote=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC219615287107TransmembraneNote=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC219615287107TransmembraneNote=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC219615287107TransmembraneNote=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC2196152122142TransmembraneNote=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC2196152122142TransmembraneNote=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC2196152122142TransmembraneNote=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC2196152122142TransmembraneNote=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9HC2196152122142TransmembraneNote=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button 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 featureDescription of feature

check button 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 featureDescription of feature


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3'-UTR located exon skipping events that lost miRNA binding sites in SLC25A19

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000005809947528838875288461hsa-miR-1255b-5pchr17:75288407-752884148mer-1achr17:75288403-75288427159.00-24.09
MayoENST000004168587528850275288591hsa-miR-146b-3pchr17:75288578-752885858mer-1achr17:75288572-75288591163.00-24.46
MayoENST000004168587528850275288591hsa-miR-7113-3pchr17:75288580-752885878mer-1achr17:75288572-75288591163.00-24.46
MayoENST000005809947528838875288461hsa-miR-3165chr17:75288410-752884178mer-1achr17:75288403-75288427159.00-24.09
MayoENST000004168587528850275288591hsa-miR-6867-5pchr17:75288547-752885548mer-1achr17:75288542-75288562157.00-18.73
MayoENST000004168587528850275288591hsa-miR-6867-3pchr17:75288581-752885888mer-1achr17:75288572-75288591163.00-24.46
MayoENST000004168587528850275288591hsa-miR-935chr17:75288569-752885768mer-1achr17:75288566-75288585158.00-22.61
MayoENST000004168587528850275288591hsa-let-7c-3pchr17:75288517-752885248mer-1achr17:75288503-75288524156.00-13.86
MayoENST000005809947528838875288461hsa-miR-1255achr17:75288407-752884148mer-1achr17:75288403-75288427159.00-24.09
MayoENST000004168587528850275288591hsa-miR-7159-3pchr17:75288527-752885348mer-1achr17:75288523-75288543155.00-17.46
MayoENST000005809947528838875288461hsa-miR-3202chr17:75288437-752884448mer-1achr17:75288436-75288458158.00-21.46
MSBBENST000005809947528838875288461hsa-miR-1255b-5pchr17:75288407-752884148mer-1achr17:75288403-75288427159.00-24.09
MSBBENST000004168587528850275288591hsa-miR-146b-3pchr17:75288578-752885858mer-1achr17:75288572-75288591163.00-24.46
MSBBENST000004168587528850275288591hsa-miR-7113-3pchr17:75288580-752885878mer-1achr17:75288572-75288591163.00-24.46
MSBBENST000005809947528838875288461hsa-miR-3165chr17:75288410-752884178mer-1achr17:75288403-75288427159.00-24.09
MSBBENST000004168587528850275288591hsa-miR-6867-5pchr17:75288547-752885548mer-1achr17:75288542-75288562157.00-18.73
MSBBENST000004168587528850275288591hsa-miR-6867-3pchr17:75288581-752885888mer-1achr17:75288572-75288591163.00-24.46
MSBBENST000004168587528850275288591hsa-miR-935chr17:75288569-752885768mer-1achr17:75288566-75288585158.00-22.61
MSBBENST000004168587528850275288591hsa-let-7c-3pchr17:75288517-752885248mer-1achr17:75288503-75288524156.00-13.86
MSBBENST000005809947528838875288461hsa-miR-1255achr17:75288407-752884148mer-1achr17:75288403-75288427159.00-24.09
MSBBENST000004168587528850275288591hsa-miR-7159-3pchr17:75288527-752885348mer-1achr17:75288523-75288543155.00-17.46
MSBBENST000005809947528838875288461hsa-miR-3202chr17:75288437-752884448mer-1achr17:75288436-75288458158.00-21.46
ROSMAPENST000005809947528838875288461hsa-miR-1255b-5pchr17:75288407-752884148mer-1achr17:75288403-75288427159.00-24.09
ROSMAPENST000003203627528855475288591hsa-miR-146b-3pchr17:75288578-752885858mer-1achr17:75288572-75288591163.00-24.46
ROSMAPENST000004168587528850275288591hsa-miR-146b-3pchr17:75288578-752885858mer-1achr17:75288572-75288591163.00-24.46
ROSMAPENST000003203627528855475288591hsa-miR-7113-3pchr17:75288580-752885878mer-1achr17:75288572-75288591163.00-24.46
ROSMAPENST000004168587528850275288591hsa-miR-7113-3pchr17:75288580-752885878mer-1achr17:75288572-75288591163.00-24.46
ROSMAPENST000005809947528838875288461hsa-miR-3165chr17:75288410-752884178mer-1achr17:75288403-75288427159.00-24.09
ROSMAPENST000004168587528850275288591hsa-miR-6867-5pchr17:75288547-752885548mer-1achr17:75288542-75288562157.00-18.73
ROSMAPENST000003203627528855475288591hsa-miR-6867-3pchr17:75288581-752885888mer-1achr17:75288572-75288591163.00-24.46
ROSMAPENST000004168587528850275288591hsa-miR-6867-3pchr17:75288581-752885888mer-1achr17:75288572-75288591163.00-24.46
ROSMAPENST000003203627528855475288591hsa-miR-935chr17:75288569-752885768mer-1achr17:75288566-75288585158.00-22.61
ROSMAPENST000004168587528850275288591hsa-miR-935chr17:75288569-752885768mer-1achr17:75288566-75288585158.00-22.61
ROSMAPENST000004168587528850275288591hsa-let-7c-3pchr17:75288517-752885248mer-1achr17:75288503-75288524156.00-13.86
ROSMAPENST000005809947528838875288461hsa-miR-1255achr17:75288407-752884148mer-1achr17:75288403-75288427159.00-24.09
ROSMAPENST000004168587528850275288591hsa-miR-7159-3pchr17:75288527-752885348mer-1achr17:75288523-75288543155.00-17.46
ROSMAPENST000005809947528838875288461hsa-miR-3202chr17:75288437-752884448mer-1achr17:75288436-75288458158.00-21.46

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SNVs in the skipped exons for SLC25A19

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for SLC25A19

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A19

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for SLC25A19

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for SLC25A19

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SLC25A19

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource