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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 ITPRID2

check button Gene summary
Gene informationGene symbol

ITPRID2

Gene ID

6744

Gene nameITPR interacting domain containing 2
SynonymsCS-1|CS1|KRAP|SPAG13|SSFA2
Cytomap

2q31.3

Type of geneprotein-coding
Descriptionprotein ITPRID2ITPR-interacting domain-containing protein 2KRAS-induced actin-interacting proteincleavage signal-1 proteinki-ras-induced actin-interacting proteinsperm associated antigen 13sperm specific antigen 2
Modification date20200320
UniProtAcc

E7EUL7,

E9PHV5,

F2Z295,

H7BZ26,

P28290,

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 ITPRID2

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

ENSG00000138434
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
PCCUPENST00000409136.5ITPRID2-203:protein_coding:ITPRID23.214480e+021.883995e+004.884204e-041.628233e-02
PCCUPENST00000320370.11ITPRID2-201:protein_coding:ITPRID22.009496e+028.220215e-015.821276e-041.813067e-02
HCCUPENST00000409136.5ITPRID2-203:protein_coding:ITPRID27.810032e+011.631280e+009.692500e-056.966261e-03
STGUPENST00000320370.11ITPRID2-201:protein_coding:ITPRID23.837443e+021.153709e+002.638987e-041.930038e-02
CBUPENST00000454579.5ITPRID2-208:nonsense_mediated_decay:ITPRID29.089555e+011.444582e+006.048705e-114.178443e-09
TCUPENST00000454579.5ITPRID2-208:nonsense_mediated_decay:ITPRID26.241606e+012.028418e+001.068954e-102.056518e-08
TCUPENST00000431877.7ITPRID2-205:protein_coding:ITPRID28.079588e+028.818635e-014.590341e-033.143157e-02

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 ITPRID2

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_113106chr2181916838:181917005:181918323:181918470:181918598:181918675181918323:181918470
exon_skip_114791chr2181921948:181922412:181928161:181928199:181929561:181929677181928161:181928199
exon_skip_114972chr2181892632:181892660:181896030:181896079:181896908:181896964181896030:181896079
exon_skip_132833chr2181918598:181918675:181918755:181918882:181919296:181919375181918755:181918882
exon_skip_148010chr2181916890:181917005:181918323:181918470:181918598:181918675181918323:181918470
exon_skip_173010chr2181919430:181919446:181920597:181920662:181921948:181922412181920597:181920662
exon_skip_177658chr2181898880:181898919:181899014:181899112:181900696:181900904181899014:181899112
exon_skip_210299chr2181922112:181922412:181928161:181928278:181929561:181929677181928161:181928278
exon_skip_232858chr2181918599:181918675:181918755:181918882:181919296:181919375181918755:181918882
exon_skip_235002chr2181921948:181922412:181928161:181928278:181929561:181929677181928161:181928278
exon_skip_246693chr2181919296:181919446:181920597:181920662:181921948:181922412181920597:181920662
exon_skip_270717chr2181922112:181922412:181928161:181928199:181929561:181929677181928161:181928199
exon_skip_272338chr2181901766:181902466:181909899:181909971:181913845:181913933181909899:181909971
exon_skip_292508chr2181915922:181916427:181918598:181918675:181918755:181918882181918598:181918675
exon_skip_44865chr2181916942:181917005:181918323:181918470:181918598:181918675181918323:181918470

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_108621ROSMAP_DLPFC1.674522e-012.854651e-01-1.180129e-016.575857e-04
exon_skip_200490MSBB_STG1.964179e-013.329167e-01-1.364988e-012.054398e-03
exon_skip_200490MSBB_PG1.115333e-012.653448e-01-1.538115e-012.111467e-08
exon_skip_200490Mayo_TC8.329268e-021.935897e-01-1.102971e-014.169117e-06


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Open reading frame (ORF) annotation in the exon skipping event for ITPRID2

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
ENST000004318771819281611819282783UTR-3CDS
ENST00000431877181896030181896079Frame-shift
ENST00000431877181918755181918882Frame-shift
ENST00000431877181920597181920662In-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
ENST000004318771819281611819282783UTR-3CDS
ENST00000431877181896030181896079Frame-shift
ENST00000431877181920597181920662In-frame

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
ENST000004318771819281611819282783UTR-3CDS
ENST00000431877181896030181896079Frame-shift
ENST00000431877181909899181909971Frame-shift
ENST00000431877181918755181918882Frame-shift
ENST00000431877181899014181899112In-frame
ENST00000431877181918598181918675In-frame
ENST00000431877181920597181920662In-frame

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Infer the effects of exon skipping event on protein functional features for ITPRID2

p-ENSG00000138434_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

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


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3'-UTR located exon skipping events that lost miRNA binding sites in ITPRID2

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

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SNVs in the skipped exons for ITPRID2

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 ITPRID2

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 ITPRID2

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_270717rs13419200chr2:1818935301.798144e-054.268771e-03
TCexon_skip_173010rs1153744chr2:1819950071.337358e-042.063378e-02

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Correlation with RNA binding proteins (RBPs) for ITPRID2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBNUP42exon_skip_1149724.193769e-013.750513e-08
CBSRSF4exon_skip_114972-4.440752e-014.538475e-09
CBSRSF2exon_skip_779034.270156e-015.055724e-08
CBSRSF2exon_skip_2004906.560205e-016.270505e-21
CBELAVL4exon_skip_2004904.243916e-012.476066e-08
CBTIA1exon_skip_2004906.281176e-017.858404e-19
CBHNRNPKexon_skip_2004905.043890e-011.213940e-11
CBPCBP2exon_skip_2004904.910444e-014.981344e-11
CBFUBP3exon_skip_2004904.434250e-014.808455e-09
CBHNRNPA0exon_skip_2004905.636533e-011.031384e-14
CBHNRNPDLexon_skip_2004906.423281e-017.143336e-20
CBHNRNPDexon_skip_2004906.485733e-012.391582e-20
CBNUP42exon_skip_2004906.380243e-011.496400e-19
CBRALYLexon_skip_2004906.881592e-011.225499e-23
CBPTBP3exon_skip_2004905.156253e-013.523112e-12
CBCELF1exon_skip_2004904.383802e-017.498014e-09
CBCPEB1exon_skip_2004904.418009e-015.552213e-09
CBPABPC1exon_skip_2004906.446895e-014.737073e-20
CBSRSF9exon_skip_2004906.207803e-012.584547e-18
CBSART3exon_skip_2004904.596101e-011.099900e-09
CBHNRNPKexon_skip_533764.747445e-012.938003e-10
CBPCBP2exon_skip_533765.169091e-013.573737e-12
CBHNRNPA0exon_skip_533765.681302e-016.949796e-15
CBPABPC1exon_skip_533764.530865e-012.263733e-09
CBSART3exon_skip_533764.039575e-011.414051e-07
CBPCBP4exon_skip_2466935.552683e-013.056918e-14
CBNUP42exon_skip_2466935.339387e-014.245343e-13
CBZNF638exon_skip_210299-4.785121e-011.776524e-10
CBCNOT4exon_skip_210299-4.211270e-013.247044e-08
CBRBM4Bexon_skip_210299-4.616908e-019.047779e-10
DLPFCDAZAP1exon_skip_1086216.196746e-013.632955e-27
DLPFCSRSF2exon_skip_1086217.063222e-015.029440e-38
DLPFCELAVL4exon_skip_1086217.692870e-018.571287e-49
DLPFCELAVL1exon_skip_1086214.255647e-014.147196e-12
DLPFCU2AF2exon_skip_1086215.860619e-018.288546e-24
DLPFCTIA1exon_skip_1086215.370096e-011.486433e-19
DLPFCTRNAU1APexon_skip_1086214.440396e-013.657029e-13
DLPFCPCBP1exon_skip_1086216.791144e-013.264799e-34
DLPFCHNRNPKexon_skip_1086216.310051e-012.160747e-28
DLPFCPCBP4exon_skip_1086214.819998e-011.533457e-15
DLPFCPCBP2exon_skip_1086216.358967e-016.160902e-29
DLPFCRC3H1exon_skip_1086215.296392e-015.661844e-19
DLPFCKHDRBS2exon_skip_1086218.170929e-011.415991e-59
DLPFCSNRPAexon_skip_1086216.116320e-012.514336e-26
DLPFCSF1exon_skip_1086216.545458e-014.159474e-31
DLPFCKHDRBS3exon_skip_1086216.985626e-016.799821e-37
DLPFCRBM24exon_skip_1086216.466001e-013.650606e-30
DLPFCFUBP3exon_skip_1086214.971908e-011.408190e-16
DLPFCKHSRPexon_skip_1086216.775957e-015.182553e-34
DLPFCHNRNPA0exon_skip_1086217.233120e-011.233739e-40
DLPFCHNRNPDLexon_skip_1086217.169708e-011.224325e-39
DLPFCPUF60exon_skip_1086216.933885e-013.686988e-36
DLPFCHNRNPDexon_skip_1086217.158384e-011.832389e-39
DLPFCHNRNPCexon_skip_1086214.554403e-017.581872e-14
DLPFCNUP42exon_skip_1086216.621102e-014.945385e-32
DLPFCRALYLexon_skip_1086217.230111e-011.377677e-40
DLPFCRBM42exon_skip_1086215.890817e-014.292030e-24
DLPFCPTBP3exon_skip_1086216.074867e-016.670415e-26
DLPFCCPEB2exon_skip_1086214.778910e-012.867102e-15
DLPFCCELF1exon_skip_1086215.788308e-013.898626e-23
DLPFCRBM23exon_skip_1086215.476263e-012.042290e-20
DLPFCCPEB1exon_skip_1086217.857269e-013.462748e-52
DLPFCPABPC1exon_skip_1086215.247343e-011.354259e-18
DLPFCSRSF1exon_skip_1086215.813032e-012.306089e-23
DLPFCSRSF9exon_skip_1086216.217626e-012.178459e-27
DLPFCSART3exon_skip_1086216.863446e-013.479735e-35
DLPFCNOVA1exon_skip_1086217.215135e-012.380737e-40
FLSRSF2exon_skip_2004905.496514e-016.027743e-17
FLMSI1exon_skip_200490-4.766805e-011.432684e-12
FLELAVL4exon_skip_2004906.419582e-012.832104e-24
FLTIA1exon_skip_2004905.071761e-012.841147e-14
FLHNRNPKexon_skip_2004905.589165e-011.397328e-17
FLPCBP2exon_skip_2004904.297970e-012.924087e-10
FLKHDRBS2exon_skip_2004905.363762e-014.531812e-16
FLKHDRBS3exon_skip_2004906.630213e-012.575414e-26
FLRBM24exon_skip_2004905.754919e-019.097986e-19
FLFUBP1exon_skip_2004904.827816e-016.743403e-13
FLHNRNPA0exon_skip_2004905.673375e-013.555441e-18
FLHNRNPDLexon_skip_2004904.945331e-011.513342e-13
FLPUF60exon_skip_2004904.061985e-013.174499e-09
FLHNRNPCexon_skip_2004905.419938e-011.950909e-16
FLNUP42exon_skip_2004905.399964e-012.637336e-16
FLRALYLexon_skip_2004906.160918e-015.633692e-22
FLCELF1exon_skip_2004905.127852e-011.322776e-14
FLRBM23exon_skip_2004904.593873e-011.120317e-11
FLCPEB1exon_skip_2004905.157873e-018.735078e-15
FLSRSF1exon_skip_2004904.955753e-011.321842e-13
FLSRSF9exon_skip_2004904.974296e-011.037860e-13
FLZCRB1exon_skip_2004904.407372e-019.079154e-11
FLSART3exon_skip_2004905.077392e-012.632899e-14
FLNOVA1exon_skip_2004905.463527e-011.003412e-16
IFGELAVL4exon_skip_2004905.860581e-011.048867e-03
IFGPABPN1Lexon_skip_200490-4.136586e-012.865837e-02
IFGKHDRBS2exon_skip_2004905.341776e-013.411427e-03
IFGKHDRBS3exon_skip_2004904.586900e-011.408707e-02
IFGRALYLexon_skip_2004905.168840e-014.856895e-03
IFGNOVA1exon_skip_2004905.946490e-018.462602e-04
IFGRBM24exon_skip_2466934.629940e-011.309849e-02
IFGESRP2exon_skip_2466934.146308e-012.824869e-02
PCCRBMS2exon_skip_200490-4.054895e-016.473936e-10
PCCELAVL4exon_skip_2004904.948753e-011.106885e-14
PCCKHDRBS2exon_skip_2004904.354276e-012.326646e-11
PCCPTBP1exon_skip_200490-4.478345e-015.313177e-12
PCCCPEB1exon_skip_2004905.111286e-011.042321e-15
PGMSI1exon_skip_200490-4.500186e-019.134858e-12
PGELAVL4exon_skip_2004906.200801e-011.734962e-23
PGU2AF2exon_skip_2004904.414973e-012.470258e-11
PGPCBP1exon_skip_2004905.132235e-012.256756e-15
PGHNRNPKexon_skip_2004904.169856e-013.720081e-10
PGKHDRBS2exon_skip_2004906.495282e-012.608463e-26
PGKHDRBS3exon_skip_2004904.927885e-013.997891e-14
PGRBM24exon_skip_2004905.000093e-011.479791e-14
PGHNRNPA0exon_skip_2004904.571314e-013.897483e-12
PGPUF60exon_skip_2004904.872255e-018.462860e-14
PGRALYLexon_skip_2004906.036025e-014.927292e-22
PGCELF1exon_skip_2004905.157320e-011.564636e-15
PGCPEB1exon_skip_2004906.387725e-013.040860e-25
PGSART3exon_skip_2004904.371012e-014.083030e-11
PGNOVA1exon_skip_2004904.834709e-011.393219e-13
STGSRSF2exon_skip_2004904.878652e-019.338106e-07
STGMSI1exon_skip_200490-4.655742e-013.315482e-06
STGELAVL4exon_skip_2004906.391833e-019.202845e-12
STGPABPN1Lexon_skip_200490-4.154725e-014.216270e-05
STGELAVL1exon_skip_2004904.264094e-012.503269e-05
STGPCBP1exon_skip_2004904.685572e-012.812754e-06
STGHNRNPKexon_skip_2004905.337098e-015.107778e-08
STGKHDRBS2exon_skip_2004906.092308e-011.473892e-10
STGKHDRBS3exon_skip_2004906.503196e-013.032206e-12
STGRBM24exon_skip_2004905.444702e-012.421336e-08
STGFUBP1exon_skip_2004904.325349e-011.854540e-05
STGHNRNPA0exon_skip_2004905.941268e-015.363267e-10
STGHNRNPDLexon_skip_2004904.813476e-011.365165e-06
STGPUF60exon_skip_2004904.085224e-015.818335e-05
STGHNRNPDexon_skip_2004904.317734e-011.925607e-05
STGHNRNPCexon_skip_2004904.504965e-017.437466e-06
STGNUP42exon_skip_2004905.096272e-012.478603e-07
STGRALYLexon_skip_2004906.967557e-011.721303e-14
STGPTBP3exon_skip_2004904.162013e-014.074591e-05
STGCPEB2exon_skip_2004904.390839e-011.337050e-05
STGCELF1exon_skip_2004905.171148e-011.536676e-07
STGCPEB1exon_skip_2004905.311510e-016.076715e-08
STGSRSF1exon_skip_2004904.217904e-013.126716e-05
STGSRSF9exon_skip_2004904.862855e-011.024577e-06
STGSART3exon_skip_2004904.013140e-018.065793e-05
STGNOVA1exon_skip_2004905.571846e-019.683637e-09
STGHNRNPKexon_skip_533764.457693e-019.507010e-06
STGKHDRBS3exon_skip_533764.489018e-018.082962e-06
TCRBMS2exon_skip_200490-4.348287e-019.163955e-09
TCSRSF2exon_skip_2004906.145733e-015.431914e-18
TCMSI1exon_skip_200490-4.729284e-012.705288e-10
TCELAVL4exon_skip_2004907.088207e-011.001012e-25
TCKHDRBS2exon_skip_2004907.220407e-014.600977e-27
TCKHDRBS3exon_skip_2004905.940626e-011.228688e-16
TCRBM24exon_skip_2004906.028735e-013.307406e-17
TCHNRNPA0exon_skip_2004906.381786e-011.118671e-19
TCHNRNPDLexon_skip_2004905.247678e-011.056184e-12
TCHNRNPDexon_skip_2004906.062197e-011.987903e-17
TCNUP42exon_skip_2004906.337520e-012.376832e-19
TCRALYLexon_skip_2004907.109719e-016.136345e-26
TCPTBP3exon_skip_2004904.027888e-011.289140e-07
TCCELF1exon_skip_2004905.668352e-015.563568e-15
TCCPEB1exon_skip_2004905.619347e-011.065318e-14
TCSART3exon_skip_2004904.053854e-011.051105e-07
TCNOVA1exon_skip_2004907.244202e-012.593321e-27
TCMSI1exon_skip_53376-5.433881e-011.133245e-13
TCNOVA1exon_skip_533765.748119e-011.888146e-15
TCNUP42exon_skip_1730104.033122e-011.237351e-07

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RelatedDrugs for ITPRID2

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 ITPRID2

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