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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for NLRP2 |
 Gene summary |
| Gene information | Gene symbol | NLRP2 | Gene ID | 55655 |
| Gene name | NLR family pyrin domain containing 2 | |
| Synonyms | CLR19.9|NALP2|NBS1|PAN1|PYPAF2 | |
| Cytomap | 19q13.42 | |
| Type of gene | protein-coding | |
| Description | NACHT, LRR and PYD domains-containing protein 2NACHT, leucine rich repeat and PYD containing 2PYRIN domain and NACHT domain-containing protein 1PYRIN-containing APAF1-like protein 2nucleotide-binding oligomerization domain, leucine rich repeat and pyr | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NX02 | |
| Context | PubMed: NLRP2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NLRP2 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 15030775 |
| NLRP2 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 15030775 |
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Exon skipping events across known transcript of Ensembl for NLRP2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for NLRP2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NLRP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_311554 | 19 | 55477773:55477835:55481366:55481663:55485867:55485912 | 55481366:55481663 | ENSG00000022556.11 | ENST00000538819.1,ENST00000448584.2,ENST00000263437.6,ENST00000537859.1 |
| exon_skip_311555 | 19 | 55481366:55481521:55481590:55481663:55485867:55485912 | 55481590:55481663 | ENSG00000022556.11 | ENST00000427260.2 |
| exon_skip_311556 | 19 | 55481590:55481663:55485867:55485912:55489119:55489167 | 55485867:55485912 | ENSG00000022556.11 | ENST00000543010.1,ENST00000433772.2,ENST00000588107.1,ENST00000339757.7,ENST00000448584.2,ENST00000427260.2,ENST00000263437.6,ENST00000537859.1,ENST00000540597.1,ENST00000585500.1,ENST00000588619.1 |
| exon_skip_311557 | 19 | 55485867:55485912:55488227:55488326:55489119:55489191 | 55488227:55488326 | ENSG00000022556.11 | ENST00000539848.1 |
| exon_skip_311559 | 19 | 55485867:55485912:55489119:55489191:55492984:55493007 | 55489119:55489191 | ENSG00000022556.11 | ENST00000397169.3,ENST00000543010.1,ENST00000433772.2,ENST00000448584.2,ENST00000427260.2,ENST00000540597.1,ENST00000585500.1,ENST00000588619.1 |
| exon_skip_311560 | 19 | 55489119:55489191:55492984:55493050:55493529:55493679 | 55492984:55493050 | ENSG00000022556.11 | ENST00000397169.3,ENST00000543010.1,ENST00000448584.2,ENST00000427260.2,ENST00000540597.1,ENST00000585500.1 |
| exon_skip_311561 | 19 | 55489119:55489191:55492993:55493050:55493529:55493679 | 55492993:55493050 | ENSG00000022556.11 | ENST00000263437.6 |
| exon_skip_311562 | 19 | 55494853:55495096:55496414:55496585:55497518:55497683 | 55496414:55496585 | ENSG00000022556.11 | ENST00000540005.1,ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000538819.1,ENST00000448584.2,ENST00000427260.2,ENST00000263437.6,ENST00000537859.1,ENST00000540597.1 |
| exon_skip_311563 | 19 | 55496414:55496585:55497518:55497683:55501389:55501464 | 55497518:55497683 | ENSG00000022556.11 | ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000538819.1,ENST00000448584.2,ENST00000427260.2,ENST00000263437.6,ENST00000537859.1,ENST00000540597.1 |
| exon_skip_311565 | 19 | 55497659:55497683:55500924:55501120:55501389:55501464 | 55500924:55501120 | ENSG00000022556.11 | ENST00000381637.3 |
| exon_skip_311568 | 19 | 55497659:55497683:55501389:55501560:55501869:55502040 | 55501389:55501560 | ENSG00000022556.11 | ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000538819.1,ENST00000448584.2,ENST00000427260.2,ENST00000263437.6,ENST00000537859.1 |
| exon_skip_311570 | 19 | 55497659:55497683:55501389:55501761:55501869:55502040 | 55501389:55501761 | ENSG00000022556.11 | ENST00000540597.1 |
| exon_skip_311572 | 19 | 55501389:55501464:55501582:55501761:55501869:55502010 | 55501582:55501761 | ENSG00000022556.11 | ENST00000543277.1 |
| exon_skip_311576 | 19 | 55501389:55501560:55501869:55502040:55505636:55505807 | 55501869:55502040 | ENSG00000022556.11 | ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000538819.1,ENST00000448584.2,ENST00000427260.2,ENST00000263437.6,ENST00000537859.1 |
| exon_skip_311580 | 19 | 55501869:55502040:55505636:55505807:55508684:55508855 | 55505636:55505807 | ENSG00000022556.11 | ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000538819.1,ENST00000448584.2,ENST00000427260.2,ENST00000263437.6,ENST00000537859.1,ENST00000540597.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NLRP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_311554 | 19 | 55477773:55477835:55481366:55481663:55485867:55485912 | 55481366:55481663 | ENSG00000022556.11 | ENST00000448584.2,ENST00000537859.1,ENST00000538819.1,ENST00000263437.6 |
| exon_skip_311556 | 19 | 55481590:55481663:55485867:55485912:55489119:55489167 | 55485867:55485912 | ENSG00000022556.11 | ENST00000588619.1,ENST00000588107.1,ENST00000433772.2,ENST00000543010.1,ENST00000540597.1,ENST00000339757.7,ENST00000448584.2,ENST00000537859.1,ENST00000585500.1,ENST00000427260.2,ENST00000263437.6 |
| exon_skip_311557 | 19 | 55485867:55485912:55488227:55488326:55489119:55489191 | 55488227:55488326 | ENSG00000022556.11 | ENST00000539848.1 |
| exon_skip_311559 | 19 | 55485867:55485912:55489119:55489191:55492984:55493007 | 55489119:55489191 | ENSG00000022556.11 | ENST00000588619.1,ENST00000433772.2,ENST00000543010.1,ENST00000540597.1,ENST00000448584.2,ENST00000585500.1,ENST00000427260.2,ENST00000397169.3 |
| exon_skip_311560 | 19 | 55489119:55489191:55492984:55493050:55493529:55493679 | 55492984:55493050 | ENSG00000022556.11 | ENST00000543010.1,ENST00000540597.1,ENST00000448584.2,ENST00000585500.1,ENST00000427260.2,ENST00000397169.3 |
| exon_skip_311561 | 19 | 55489119:55489191:55492993:55493050:55493529:55493679 | 55492993:55493050 | ENSG00000022556.11 | ENST00000263437.6 |
| exon_skip_311562 | 19 | 55494853:55495096:55496414:55496585:55497518:55497683 | 55496414:55496585 | ENSG00000022556.11 | ENST00000543010.1,ENST00000540597.1,ENST00000391721.4,ENST00000339757.7,ENST00000448584.2,ENST00000537859.1,ENST00000427260.2,ENST00000538819.1,ENST00000263437.6,ENST00000540005.1 |
| exon_skip_311565 | 19 | 55497659:55497683:55500924:55501120:55501389:55501464 | 55500924:55501120 | ENSG00000022556.11 | ENST00000381637.3 |
| exon_skip_311568 | 19 | 55497659:55497683:55501389:55501560:55501869:55502040 | 55501389:55501560 | ENSG00000022556.11 | ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000448584.2,ENST00000537859.1,ENST00000427260.2,ENST00000538819.1,ENST00000263437.6 |
| exon_skip_311570 | 19 | 55497659:55497683:55501389:55501761:55501869:55502040 | 55501389:55501761 | ENSG00000022556.11 | ENST00000540597.1 |
| exon_skip_311572 | 19 | 55501389:55501464:55501582:55501761:55501869:55502010 | 55501582:55501761 | ENSG00000022556.11 | ENST00000543277.1 |
| exon_skip_311576 | 19 | 55501389:55501560:55501869:55502040:55505636:55505807 | 55501869:55502040 | ENSG00000022556.11 | ENST00000543010.1,ENST00000391721.4,ENST00000339757.7,ENST00000448584.2,ENST00000537859.1,ENST00000427260.2,ENST00000538819.1,ENST00000263437.6 |
| exon_skip_311580 | 19 | 55501869:55502040:55505636:55505807:55508684:55508855 | 55505636:55505807 | ENSG00000022556.11 | ENST00000543010.1,ENST00000540597.1,ENST00000391721.4,ENST00000339757.7,ENST00000448584.2,ENST00000537859.1,ENST00000427260.2,ENST00000538819.1,ENST00000263437.6 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NLRP2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for NLRP2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| Loci of skipped exons in GTEx 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 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for NLRP2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| UCEC | TCGA-AX-A060-01 | exon_skip_311576 | 55501870 | 55502040 | 55501942 | 55501942 | Frame_Shift_Del | G | - | p.L870fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_311554 | 55481367 | 55481663 | 55481624 | 55481624 | Nonsense_Mutation | C | T | p.R81* |
| STAD | TCGA-BR-A4QL-01 | exon_skip_311554 | 55481367 | 55481663 | 55481624 | 55481624 | Nonsense_Mutation | C | T | p.R81X |
| STAD | TCGA-BR-A4QL-01 | exon_skip_311555 | 55481591 | 55481663 | 55481624 | 55481624 | Nonsense_Mutation | C | T | p.R81* |
| STAD | TCGA-BR-A4QL-01 | exon_skip_311555 | 55481591 | 55481663 | 55481624 | 55481624 | Nonsense_Mutation | C | T | p.R81X |
| BRCA | TCGA-AO-A1KT-01 | exon_skip_311559 | 55489120 | 55489191 | 55489137 | 55489137 | Nonsense_Mutation | C | T | p.R115* |
| KIRC | TCGA-CZ-5467-01 | exon_skip_311559 | 55489120 | 55489191 | 55489137 | 55489137 | Nonsense_Mutation | C | T | p.R115X |
| SKCM | TCGA-ER-A2NB-01 | exon_skip_311559 | 55489120 | 55489191 | 55489137 | 55489137 | Nonsense_Mutation | C | T | p.R115* |
| SKCM | TCGA-EE-A182-06 | exon_skip_311568 | 55501390 | 55501560 | 55501423 | 55501423 | Nonsense_Mutation | G | A | p.W777X |
| SKCM | TCGA-EE-A182-06 | exon_skip_311568 | 55501390 | 55501560 | 55501423 | 55501423 | Nonsense_Mutation | G | A | p.W800* |
| SKCM | TCGA-EE-A182-06 | exon_skip_311570 | 55501390 | 55501761 | 55501423 | 55501423 | Nonsense_Mutation | G | A | p.W777X |
| SKCM | TCGA-EE-A182-06 | exon_skip_311570 | 55501390 | 55501761 | 55501423 | 55501423 | Nonsense_Mutation | G | A | p.W800* |
| HNSC | TCGA-CV-7101-01 | exon_skip_311568 | 55501390 | 55501560 | 55501499 | 55501499 | Nonsense_Mutation | G | T | p.E826* |
| HNSC | TCGA-CV-7101-01 | exon_skip_311570 | 55501390 | 55501761 | 55501499 | 55501499 | Nonsense_Mutation | G | T | p.E826* |
| UCEC | TCGA-AP-A059-01 | exon_skip_311576 | 55501870 | 55502040 | 55501892 | 55501892 | Nonsense_Mutation | G | T | p.E854* |
| ESCA | TCGA-X8-AAAR-01 | exon_skip_311576 | 55501870 | 55502040 | 55502000 | 55502000 | Nonsense_Mutation | G | T | p.E890* |
| ESCA | TCGA-X8-AAAR-01 | exon_skip_311576 | 55501870 | 55502040 | 55502000 | 55502000 | Nonsense_Mutation | G | T | p.E890X |
| GBM | TCGA-06-0145-01 | exon_skip_311580 | 55505637 | 55505807 | 55505643 | 55505643 | Nonsense_Mutation | G | A | p.W905* |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_311563 | 55497519 | 55497683 | 55497518 | 55497518 | Splice_Site | G | T | . |
| BRCA | TCGA-BH-A0EE-01 | exon_skip_311568 | 55501390 | 55501560 | 55501561 | 55501561 | Splice_Site | G | A | e8+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| VMCUB1_URINARY_TRACT | 55481367 | 55481663 | 55481401 | 55481401 | Missense_Mutation | G | C | p.Q6H |
| ISTSL1_LUNG | 55481367 | 55481663 | 55481432 | 55481432 | Missense_Mutation | C | A | p.Q17K |
| SEKI_SKIN | 55481367 | 55481663 | 55481513 | 55481513 | Missense_Mutation | C | A | p.H44N |
| JHH1_LIVER | 55481367 | 55481663 | 55481528 | 55481528 | Missense_Mutation | A | G | p.K49E |
| HT55_LARGE_INTESTINE | 55481367 | 55481663 | 55481622 | 55481622 | Missense_Mutation | A | T | p.H80L |
| HT55_LARGE_INTESTINE | 55481591 | 55481663 | 55481622 | 55481622 | Missense_Mutation | A | T | p.H80L |
| EVSAT_BREAST | 55481367 | 55481663 | 55481625 | 55481625 | Missense_Mutation | G | A | p.R81Q |
| EVSAT_BREAST | 55481591 | 55481663 | 55481625 | 55481625 | Missense_Mutation | G | A | p.R81Q |
| MCC13_SKIN | 55481367 | 55481663 | 55481629 | 55481629 | Missense_Mutation | G | A | p.M82I |
| MCC13_SKIN | 55481591 | 55481663 | 55481629 | 55481629 | Missense_Mutation | G | A | p.M82I |
| SKMEL1_SKIN | 55481367 | 55481663 | 55481641 | 55481641 | Missense_Mutation | G | T | p.E86D |
| SKMEL1_SKIN | 55481591 | 55481663 | 55481641 | 55481641 | Missense_Mutation | G | T | p.E86D |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55485868 | 55485912 | 55485883 | 55485883 | Missense_Mutation | C | T | p.S99F |
| HS870T_FIBROBLAST | 55485868 | 55485912 | 55485901 | 55485901 | Missense_Mutation | C | T | p.P105L |
| MEWO_SKIN | 55489120 | 55489191 | 55489138 | 55489138 | Missense_Mutation | G | A | p.R115Q |
| HSC39_STOMACH | 55489120 | 55489191 | 55489146 | 55489146 | Missense_Mutation | C | G | p.L118V |
| WM793_SKIN | 55492985 | 55493050 | 55493039 | 55493039 | Missense_Mutation | G | A | p.G151E |
| WM793_SKIN | 55492994 | 55493050 | 55493039 | 55493039 | Missense_Mutation | G | A | p.G151E |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 55492985 | 55493050 | 55493045 | 55493045 | Missense_Mutation | A | G | p.K153R |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 55492994 | 55493050 | 55493045 | 55493045 | Missense_Mutation | A | G | p.K153R |
| SW684_SOFT_TISSUE | 55496415 | 55496585 | 55496441 | 55496441 | Missense_Mutation | C | A | p.P686H |
| NCIH196_LUNG | 55496415 | 55496585 | 55496450 | 55496450 | Missense_Mutation | C | A | p.T689K |
| SNU407_LARGE_INTESTINE | 55496415 | 55496585 | 55496450 | 55496450 | Missense_Mutation | C | T | p.T689M |
| CW2_LARGE_INTESTINE | 55496415 | 55496585 | 55496452 | 55496452 | Missense_Mutation | G | T | p.D690Y |
| LB831BLC_URINARY_TRACT | 55497519 | 55497683 | 55497572 | 55497572 | Missense_Mutation | G | A | p.R752Q |
| LB831EBV_MATCHED_NORMAL_TISSUE | 55497519 | 55497683 | 55497572 | 55497572 | Missense_Mutation | G | A | p.R752Q |
| KNS62_LUNG | 55497519 | 55497683 | 55497578 | 55497578 | Missense_Mutation | A | G | p.H754R |
| SKN_ENDOMETRIUM | 55497519 | 55497683 | 55497602 | 55497602 | Missense_Mutation | T | C | p.L762P |
| JHH7_LIVER | 55497519 | 55497683 | 55497628 | 55497628 | Missense_Mutation | T | G | p.F771V |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55497519 | 55497683 | 55497635 | 55497635 | Missense_Mutation | C | T | p.A773V |
| SW684_SOFT_TISSUE | 55497519 | 55497683 | 55497679 | 55497679 | Missense_Mutation | C | T | p.L788F |
| MET2B | 55501390 | 55501560 | 55501481 | 55501481 | Missense_Mutation | G | A | p.D820N |
| MET2B | 55501390 | 55501761 | 55501481 | 55501481 | Missense_Mutation | G | A | p.D820N |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55501870 | 55502040 | 55501976 | 55501976 | Missense_Mutation | A | G | p.N882D |
| HEC59_ENDOMETRIUM | 55505637 | 55505807 | 55505669 | 55505669 | Missense_Mutation | G | C | p.C914S |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55505637 | 55505807 | 55505701 | 55505701 | Missense_Mutation | T | C | p.S925P |
| JHOS3_OVARY | 55505637 | 55505807 | 55505770 | 55505770 | Missense_Mutation | G | A | p.A948T |
| HEC59_ENDOMETRIUM | 55497519 | 55497683 | 55497673 | 55497673 | Nonsense_Mutation | C | T | p.R786* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NLRP2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NLRP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NLRP2 |
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RelatedDrugs for NLRP2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NLRP2 |
| 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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