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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 HNRNPC

check button Gene summary
Gene informationGene symbol

HNRNPC

Gene ID

3183

Gene nameheterogeneous nuclear ribonucleoprotein C
SynonymsC1|C2|HNRNP|HNRPC|SNRPC
Cytomap

14q11.2

Type of geneprotein-coding
Descriptionheterogeneous nuclear ribonucleoproteins C1/C2heterogeneous nuclear ribonucleoprotein C (C1/C2)hnRNP C1/C2nuclear ribonucleoprotein particle C1 proteinnuclear ribonucleoprotein particle C2 protein
Modification date20200322
UniProtAcc

B2R5W2,

B4DSU6,

B4DY08,

G3V251,

G3V2D6,

G3V2H6,

G3V2Q1,

G3V3K6,

G3V4C1,

G3V4M8,

G3V4W0,

G3V555,

G3V575,

G3V576,

G3V5V7,

G3V5X6,

P07910,

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 HNRNPC

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

ENSG00000092199
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
HCCDOWNENST00000557201.5HNRNPC-230:protein_coding:HNRNPC5.120225e+01-1.613164e+003.646710e-053.489625e-03
PGUPENST00000553444.1HNRNPC-206:retained_intron:HNRNPC4.978943e+011.202471e+002.417871e-032.731539e-02
CBDOWNENST00000553444.1HNRNPC-206:retained_intron:HNRNPC1.685981e+02-2.842080e+002.381952e-111.965298e-09
CBDOWNENST00000449098.5HNRNPC-204:protein_coding:HNRNPC3.502490e+02-2.033851e+008.259174e-103.725269e-08
CBUPENST00000554383.5HNRNPC-209:protein_coding:HNRNPC5.169810e+011.047428e+001.032472e-083.088877e-07
TCDOWNENST00000553444.1HNRNPC-206:retained_intron:HNRNPC1.029205e+02-3.351429e+001.763938e-172.726294e-14
TCUPENST00000554383.5HNRNPC-209:protein_coding:HNRNPC5.922212e+011.059435e+001.678255e-125.814965e-10
TCDOWNENST00000449098.5HNRNPC-204:protein_coding:HNRNPC2.039967e+02-1.599581e+003.285969e-056.633472e-04

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 HNRNPC

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_101734chr1421234219:21234229:21263311:21263582:21269298:2126933021263311:21263582
exon_skip_105678chr1421211810:21211923:21212960:21213117:21230319:2123036621212960:21213117
exon_skip_107696chr1421230997:21231072:21233953:21234229:21269298:2126938921233953:21234229
exon_skip_119128chr1421234219:21234229:21263311:21263582:21269298:2126942521263311:21263582
exon_skip_120776chr1421211287:21211306:21211406:21211563:21211810:2121190321211406:21211563
exon_skip_125713chr1421263313:21263336:21263667:21263829:21269298:2126938921263667:21263829
exon_skip_132482chr1421213105:21213117:21230319:21230366:21230958:2123107221230319:21230366
exon_skip_139017chr1421234219:21234229:21263311:21263336:21269298:2126933021263311:21263336
exon_skip_140830chr1421234219:21234229:21263311:21263336:21269298:2126938921263311:21263336
exon_skip_143610chr1421211256:21211306:21211406:21211563:21211810:2121183021211406:21211563
exon_skip_145330chr1421233995:21234229:21254547:21254593:21263311:2126333621254547:21254593
exon_skip_146385chr1421213105:21213117:21230319:21230366:21230997:2123102721230319:21230366
exon_skip_158050chr1421263311:21263336:21263667:21263829:21269298:2126933021263667:21263829
exon_skip_16406chr1421234219:21234229:21236373:21236460:21263311:2126333621236373:21236460
exon_skip_165269chr1421263311:21263336:21263667:21263829:21269298:2126938921263667:21263829
exon_skip_169555chr1421211256:21211306:21211406:21211566:21211810:2121183021211406:21211566
exon_skip_216152chr1421234219:21234229:21262601:21262768:21263311:2126333621262601:21262768
exon_skip_248861chr1421233953:21234229:21234769:21234831:21263311:2126333621234769:21234831
exon_skip_251278chr1421234219:21234229:21254547:21254593:21263311:2126333621254547:21254593
exon_skip_261852chr1421210933:21211306:21211406:21211566:21211810:2121192321211406:21211566
exon_skip_273426chr1421234219:21234229:21263311:21263582:21269298:2126938921263311:21263582
exon_skip_28538chr1421211256:21211306:21211406:21211563:21211810:2121190321211406:21211563
exon_skip_290859chr1421211287:21211306:21211406:21211566:21211810:2121192321211406:21211566
exon_skip_39349chr1421230997:21231072:21233953:21234229:21263311:2126333621233953:21234229
exon_skip_39539chr1421263311:21263336:21268623:21268668:21269298:2126933021268623:21268668
exon_skip_5949chr1421211287:21211306:21211406:21211566:21211810:2121190321211406:21211566
exon_skip_63904chr1421211256:21211306:21211406:21211566:21211810:2121190321211406:21211566
exon_skip_64559chr1421211287:21211306:21211406:21211563:21211810:2121192321211406:21211563
exon_skip_64719chr1421210933:21211306:21211406:21211563:21211810:2121192321211406:21211563
exon_skip_9941chr1421263311:21263336:21268623:21268668:21269298:2126938921268623:21268668

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 HNRNPC

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
ENST0000055445521233953212342293UTR-3CDS
ENST0000055720121233953212342293UTR-3CDS
ENST0000055445521263311212633363UTR-3UTR
ENST0000042074321263667212638293UTR-3UTR
ENST000004207432121140621211566Frame-shift
ENST000005544552121140621211566Frame-shift
ENST000005572012121140621211566Frame-shift

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
ENST0000055445521263311212633363UTR-3UTR
ENST0000042074321263667212638293UTR-3UTR
ENST000004207432121140621211566Frame-shift
ENST000005544552121140621211566Frame-shift
ENST000005572012121140621211566Frame-shift
ENST000004207432121296021213117Frame-shift
ENST000005544552121296021213117Frame-shift
ENST000005572012121296021213117Frame-shift

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
ENST0000055720121233953212342293UTR-3CDS
ENST0000042074321262601212627683UTR-3UTR
ENST0000055445521263311212633363UTR-3UTR
ENST0000042074321263667212638293UTR-3UTR
ENST000004207432121140621211566Frame-shift
ENST000005544552121140621211566Frame-shift
ENST000005572012121140621211566Frame-shift
ENST000004207432121296021213117Frame-shift
ENST000005544552121296021213117Frame-shift
ENST000005572012121296021213117Frame-shift
ENST000004207432123031921230366In-frame
ENST000005544552123031921230366In-frame
ENST000005572012123031921230366In-frame

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

p-ENSG00000092199_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

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
ENST0000042074315763062123031921230366878924119134
ENST0000055445518013062123031921230366547593119134
ENST0000055720113883062123031921230366521567119134

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

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
P0791011913439119Alternative sequenceID=VSP_019225;Note=In isoform 3. KYGKIVGCSVHKGFAFVQYVNERNARAAVAGEDGRMIAGQVLDINLAAEPKVNRGKAGVKRSAAEMYGSVTEHPSPSPLLS->N;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
P0791011913439119Alternative sequenceID=VSP_019225;Note=In isoform 3. KYGKIVGCSVHKGFAFVQYVNERNARAAVAGEDGRMIAGQVLDINLAAEPKVNRGKAGVKRSAAEMYGSVTEHPSPSPLLS->N;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
P0791011913439119Alternative sequenceID=VSP_019225;Note=In isoform 3. KYGKIVGCSVHKGFAFVQYVNERNARAAVAGEDGRMIAGQVLDINLAAEPKVNRGKAGVKRSAAEMYGSVTEHPSPSPLLS->N;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3
P07910119134108120Alternative sequenceID=VSP_005831;Note=In isoform C1 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3110598,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:3110598
P07910119134108120Alternative sequenceID=VSP_005831;Note=In isoform C1 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3110598,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:3110598
P07910119134108120Alternative sequenceID=VSP_005831;Note=In isoform C1 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:3110598,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:3110598
P079101191342306ChainID=PRO_0000081844;Note=Heterogeneous nuclear ribonucleoproteins C1/C2
P079101191342306ChainID=PRO_0000081844;Note=Heterogeneous nuclear ribonucleoproteins C1/C2
P079101191342306ChainID=PRO_0000081844;Note=Heterogeneous nuclear ribonucleoproteins C1/C2
P07910119134121121Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z204
P07910119134121121Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z204
P07910119134121121Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z204


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

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
MayoENST000004207432126366721263829hsa-miR-552-5pchr14:21263775-212637828mer-1achr14:21263774-21263797162.00-19.92
MayoENST000004207432126260121262768hsa-miR-7152-5pchr14:21262723-212627308mer-1achr14:21262717-21262740150.00-18.99
MayoENST000004207432126260121262768hsa-miR-5006-3pchr14:21262747-212627548mer-1achr14:21262729-21262754156.00-27.70
MayoENST000004207432126260121262768hsa-miR-623chr14:21262746-212627538mer-1achr14:21262729-21262754156.00-27.70
MayoENST000004207432126260121262768hsa-miR-631chr14:21262647-212626548mer-1achr14:21262646-21262669159.00-23.42
MayoENST000004207432126366721263829hsa-miR-3680-5pchr14:21263799-212638068mer-1achr14:21263791-21263811140.00-22.56
MayoENST000004207432126260121262768hsa-miR-4780chr14:21262745-212627528mer-1achr14:21262729-21262754156.00-27.70
MayoENST000004207432126260121262768hsa-miR-4755-5pchr14:21262747-212627548mer-1achr14:21262729-21262754156.00-27.70
MayoENST000004207432126260121262768hsa-miR-3661chr14:21262647-212626548mer-1achr14:21262646-21262669159.00-23.42
MayoENST000004207432126366721263829hsa-miR-340-5pchr14:21263718-212637258mer-1achr14:21263709-21263737155.00-19.96
MayoENST000004207432126260121262768hsa-miR-486-5pchr14:21262721-212627288mer-1achr14:21262710-21262728155.00-27.29
MayoENST000004207432126260121262768hsa-miR-6081chr14:21262667-212626748mer-1achr14:21262651-21262674170.00-28.76
MayoENST000004207432126260121262768hsa-miR-660-3pchr14:21262755-212627628mer-1achr14:21262742-21262762158.00-17.62
MayoENST000004207432126260121262768hsa-miR-505-5pchr14:21262642-212626498mer-1achr14:21262641-21262658155.00-22.33
MayoENST000004207432126366721263829hsa-miR-891bchr14:21263692-212636998mer-1achr14:21263690-21263710163.00-12.39
MSBBENST000004207432126366721263829hsa-miR-552-5pchr14:21263775-212637828mer-1achr14:21263774-21263797162.00-19.92
MSBBENST000004207432126366721263829hsa-miR-3680-5pchr14:21263799-212638068mer-1achr14:21263791-21263811140.00-22.56
MSBBENST000004207432126366721263829hsa-miR-340-5pchr14:21263718-212637258mer-1achr14:21263709-21263737155.00-19.96
MSBBENST000004207432126366721263829hsa-miR-891bchr14:21263692-212636998mer-1achr14:21263690-21263710163.00-12.39
ROSMAPENST000004207432126366721263829hsa-miR-552-5pchr14:21263775-212637828mer-1achr14:21263774-21263797162.00-19.92
ROSMAPENST000004207432126366721263829hsa-miR-3680-5pchr14:21263799-212638068mer-1achr14:21263791-21263811140.00-22.56
ROSMAPENST000004207432126366721263829hsa-miR-340-5pchr14:21263718-212637258mer-1achr14:21263709-21263737155.00-19.96
ROSMAPENST000004207432126366721263829hsa-miR-891bchr14:21263692-212636998mer-1achr14:21263690-21263710163.00-12.39

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SNVs in the skipped exons for HNRNPC

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 HNRNPC

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
ADstageMSBBIFGexon_skip_1570994.443558e-011.783621e-02chr14-212342192123422921263311212638292126929821269389
ADstageROSMAPPCCexon_skip_1408303.093297e-013.780000e-06chr14-212342192123422921263311212633362126929821269389
CDRMSBBIFGexon_skip_1570994.084000e-013.095835e-02chr14-212342192123422921263311212638292126929821269389
CDRMSBBIFGexon_skip_1408304.010038e-013.444316e-02chr14-212342192123422921263311212633362126929821269389

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

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 HNRNPC

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBELAVL1exon_skip_1408304.220966e-012.996777e-08
CBU2AF2exon_skip_1408304.976350e-012.499419e-11
CBHNRNPCexon_skip_1408304.038187e-011.303708e-07
CBSRSF2exon_skip_1570994.180540e-014.179968e-08
CBELAVL1exon_skip_1570994.028376e-011.407305e-07
CBTIA1exon_skip_1570994.956774e-013.072338e-11
CBHNRNPKexon_skip_1570995.043945e-011.213222e-11
CBPCBP2exon_skip_1570994.879174e-016.874426e-11
CBSF1exon_skip_1570994.480068e-013.191751e-09
CBKHSRPexon_skip_1570994.009514e-011.629047e-07
CBHNRNPDLexon_skip_1570994.283291e-011.778669e-08
CBHNRNPDexon_skip_1570994.601652e-011.044192e-09
CBRALYLexon_skip_1570994.785886e-011.763061e-10
CBPTBP3exon_skip_1570994.179156e-014.227538e-08
CBCPEB4exon_skip_1570994.355109e-019.622501e-09
CBCELF1exon_skip_1570994.943241e-013.540781e-11
CBRBM23exon_skip_1570994.126638e-016.470460e-08
CBCPEB1exon_skip_1570994.807443e-011.421803e-10
CBEWSR1exon_skip_1570994.795830e-011.596797e-10
CBSRSF9exon_skip_1570995.074984e-018.659246e-12
CBEIF4Bexon_skip_1570994.622531e-018.580721e-10
CBRBM41exon_skip_1570994.871970e-017.400533e-11
FLSRSF2exon_skip_141096-4.460764e-011.571310e-10
FLMSI1exon_skip_1410964.569442e-014.910095e-11
FLMATR3exon_skip_141096-4.688389e-011.310371e-11
FLILF2exon_skip_141096-4.314264e-017.073530e-10
FLHNRNPKexon_skip_141096-4.374854e-013.829860e-10
FLG3BP2exon_skip_141096-4.620600e-012.799323e-11
FLKHDRBS3exon_skip_141096-4.297153e-018.393457e-10
FLFUBP1exon_skip_141096-4.404930e-012.811599e-10
FLHNRNPA0exon_skip_141096-4.569184e-014.923868e-11
FLHNRNPCexon_skip_141096-4.567887e-014.993949e-11
FLRALYLexon_skip_141096-4.440473e-011.943692e-10
FLEIF4Bexon_skip_141096-4.072042e-017.306657e-09
FLZCRB1exon_skip_141096-4.050312e-018.929278e-09
FLSRSF2exon_skip_157099-4.274044e-018.586128e-10
FLMSI1exon_skip_1570994.713067e-017.660054e-12
FLTIA1exon_skip_157099-4.214233e-011.552550e-09
FLHNRNPKexon_skip_157099-4.298070e-016.745834e-10
FLFUBP1exon_skip_157099-4.579926e-013.442875e-11
FLHNRNPCexon_skip_157099-4.582552e-013.344400e-11
FLRALYLexon_skip_157099-4.135772e-013.318685e-09
FLSRSF9exon_skip_157099-4.684125e-011.067867e-11
HCCRBM3exon_skip_141096-4.089875e-011.967979e-12
IFGRBM24exon_skip_1408304.179592e-012.688199e-02
IFGPTBP3exon_skip_157099-4.640615e-011.286245e-02
PCCRBM47exon_skip_1410964.183951e-011.606557e-10
PCCRBM47exon_skip_1762694.106302e-013.742436e-10
PGTARDBPexon_skip_157099-4.088027e-011.216639e-08
PGSRSF2exon_skip_157099-4.028291e-012.067872e-08
PGELAVL4exon_skip_157099-4.033023e-011.983542e-08
PGTIA1exon_skip_157099-4.236717e-013.103012e-09
PGRBM3exon_skip_157099-4.744224e-011.722012e-11
PGHNRNPKexon_skip_157099-4.022517e-012.175465e-08
PGKHDRBS2exon_skip_157099-4.794054e-019.860641e-12
PGKHDRBS3exon_skip_157099-4.398601e-016.488789e-10
PGRBM24exon_skip_157099-4.110508e-019.937811e-09
PGFUBP1exon_skip_157099-4.577284e-011.045577e-10
PGHNRNPCexon_skip_157099-4.377303e-018.009994e-10
PGRALYLexon_skip_157099-4.197126e-014.493767e-09
PGHNRNPLexon_skip_157099-4.238389e-013.054544e-09
PGCPEB4exon_skip_157099-4.359057e-019.582848e-10
PGSRSF1exon_skip_157099-4.193698e-014.639114e-09
PGSRSF9exon_skip_157099-4.694126e-012.989283e-11
PGEIF4Bexon_skip_157099-4.669938e-013.888969e-11
PGNOVA1exon_skip_157099-4.186075e-014.978873e-09
TCELAVL4exon_skip_157099-4.636684e-016.630072e-10
TCKHDRBS2exon_skip_157099-4.400426e-015.803229e-09
TCRALYLexon_skip_157099-4.388971e-016.420221e-09
TCESRP1exon_skip_157099-4.562757e-011.330709e-09

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RelatedDrugs for HNRNPC

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 HNRNPC

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