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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 29862

FusionGeneSummary for R3HDM4_NLRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: R3HDM4_NLRP1
Fusion gene ID: 29862
HgeneTgene
Gene symbol

R3HDM4

NLRP1

Gene ID

91300

22861

Gene nameR3H domain containing 4NLR family pyrin domain containing 1
SynonymsC19orf22AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1
Cytomap

19p13.3

17p13.2

Type of geneprotein-codingprotein-coding
DescriptionR3H domain-containing protein 4R3H domain-containing protein C19orf22NACHT, LRR and PYD domains-containing protein 1NACHT, LRR and PYD containing protein 1NACHT, leucine rich repeat and PYD (pyrin domain) containing 1NACHT, leucine rich repeat and PYD containing 1caspase recruitment domain protein 7caspase recruitment
Modification date2018051920180523
UniProtAcc

Q96D70

Q9C000

Ensembl transtripts involved in fusion geneENST00000361574, ENST00000587975, 
ENST00000262467, ENST00000345221, 
ENST00000269280, ENST00000572272, 
ENST00000354411, ENST00000577119, 
ENST00000571307, 
Fusion gene scores* DoF score4 X 2 X 5=407 X 4 X 6=168
# samples 59
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: R3HDM4 [Title/Abstract] AND NLRP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneNLRP1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15212762

TgeneNLRP1

GO:0051402

neuron apoptotic process

15212762


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-D3-A2JG-06AR3HDM4chr19

900829

-NLRP1chr17

5405192

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000361574ENST00000262467R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000345221R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000269280R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000572272R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000354411R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000577119R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000571307R3HDM4chr19

900829

-NLRP1chr17

5405192

-
In-frameENST00000587975ENST00000262467R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000345221R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000269280R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000572272R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000354411R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000577119R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000571307R3HDM4chr19

900829

-NLRP1chr17

5405192

-

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FusionProtFeatures for R3HDM4_NLRP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
R3HDM4

Q96D70

NLRP1

Q9C000


check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-0171079_1364-531430DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-0171374_1463-531430DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-0171_92-531430DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017328_637-531430DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-0161079_1364-1851430DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-0161374_1463-1851430DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-0161_92-1851430DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016328_637-1851430DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-0161079_136401444DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-0161374_146301444DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-0161_9201444DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016328_63701444DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-0171079_136401474DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-0171374_146301474DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-0171_9201474DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017328_63701474DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-0151079_136401400DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-0151374_146301400DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-0151_9201400DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015328_63701400DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017334_341-531430Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016334_341-1851430Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016334_34101444Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017334_34101474Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015334_34101400Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017809_830-531430RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017838_858-531430RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017866_887-531430RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017895_915-531430RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017923_944-531430RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280-017950_973-531430RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016809_830-1851430RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016838_858-1851430RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016866_887-1851430RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016895_915-1851430RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016923_944-1851430RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221-016950_973-1851430RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016809_83001444RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016838_85801444RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016866_88701444RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016895_91501444RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016923_94401444RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411-016950_97301444RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017809_83001474RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017838_85801474RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017866_88701474RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017895_91501474RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017923_94401474RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272-017950_97301474RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015809_83001400RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015838_85801400RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015866_88701400RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015895_91501400RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015923_94401400RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119-015950_97301400RepeatNote=LRR 6

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneR3HDM4chr19:900829chr17:5405192ENST00000361574-48132_184158269Compositional biasNote=Arg-rich
HgeneR3HDM4chr19:900829chr17:5405192ENST00000361574-48187_250158269DomainR3H


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FusionGeneSequence for R3HDM4_NLRP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_R3HDM4_ENST00000361574_chr19_900829_-_NLRP1_ENST00000262467_chr17_5405192_-_178aa
MVALENPECGPEAAEGTPGGRRLLPLPSCLPALASSQVKRLSASRRKQHFINQAVRNSDLVPKAKGRKSLQRLENTQYLLTLLETDGGLP

>In-frame_R3HDM4_ENST00000587975_chr19_900829_-_NLRP1_ENST00000262467_chr17_5405192_-_157aa
MVALENPECGPEAAEGTPGGRRLLRKQHFINQAVRNSDLVPKAKGRKSLQRLENTQYLLTLLETDGGLPGLEDGDLAPPASPGIFAEACN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_R3HDM4_ENST00000361574_chr19_900829_-_NLRP1_ENST00000262467_chr17_5405192_-_534nt
ATGGTCGCGCTGGAGAACCCCGAGTGCGGCCCGGAGGCGGCGGAGGGCACCCCGGGCGGGCGGCGGCTGCTGCCCCTTCCCAGCTGCCTG
CCTGCCCTAGCCAGCTCCCAGGTGAAGAGACTCTCGGCTTCCAGGCGGAAACAGCACTTCATCAACCAGGCAGTGCGGAACTCAGACCTC
GTGCCCAAGGCCAAGGGGCGGAAGAGCCTCCAGCGCCTGGAGAACACCCAGTACCTCCTGACCCTGCTGGAGACAGACGGGGGCCTGCCT
GGCCTGGAGGATGGGGACTTGGCACCCCCTGCATCACCAGGCATCTTTGCCGAGGCCTGCAACAACGCCACCTATGTGGAGGTCTGGAAC
GATTTCATGAACCGCTCCGGGGAGGAGCAGGAGCGGGTTCTTCGCTACCTGGAGGATGAGGGCAGGAGCAAGGCGCGGAGGAGGGGCCCT

>In-frame_R3HDM4_ENST00000587975_chr19_900829_-_NLRP1_ENST00000262467_chr17_5405192_-_471nt
ATGGTCGCGCTGGAGAACCCCGAGTGCGGCCCGGAGGCGGCGGAGGGCACCCCGGGCGGGCGGCGGCTGCTGCGGAAACAGCACTTCATC
AACCAGGCAGTGCGGAACTCAGACCTCGTGCCCAAGGCCAAGGGGCGGAAGAGCCTCCAGCGCCTGGAGAACACCCAGTACCTCCTGACC
CTGCTGGAGACAGACGGGGGCCTGCCTGGCCTGGAGGATGGGGACTTGGCACCCCCTGCATCACCAGGCATCTTTGCCGAGGCCTGCAAC
AACGCCACCTATGTGGAGGTCTGGAACGATTTCATGAACCGCTCCGGGGAGGAGCAGGAGCGGGTTCTTCGCTACCTGGAGGATGAGGGC
AGGAGCAAGGCGCGGAGGAGGGGCCCTGGCCGTGGGGAGGACCGGAGGAGAGGAAGGAACACCAGCCAGCCGTGGAACCTCAGGTGCAAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_R3HDM4_ENST00000361574_chr19_900829_-_NLRP1_ENST00000262467_chr17_5405192_-_1037nt
CGGGCGCCCGTCACTTCCTGCCCGGCCCGGTGAAGGCCCTGCCGGGCGGCGGCGGCGGCGACAGCGTGCGAGCCATGGTCGCGCTGGAGA
ACCCCGAGTGCGGCCCGGAGGCGGCGGAGGGCACCCCGGGCGGGCGGCGGCTGCTGCCCCTTCCCAGCTGCCTGCCTGCCCTAGCCAGCT
CCCAGGTGAAGAGACTCTCGGCTTCCAGGCGGAAACAGCACTTCATCAACCAGGCAGTGCGGAACTCAGACCTCGTGCCCAAGGCCAAGG
GGCGGAAGAGCCTCCAGCGCCTGGAGAACACCCAGTACCTCCTGACCCTGCTGGAGACAGACGGGGGCCTGCCTGGCCTGGAGGATGGGG
ACTTGGCACCCCCTGCATCACCAGGCATCTTTGCCGAGGCCTGCAACAACGCCACCTATGTGGAGGTCTGGAACGATTTCATGAACCGCT
CCGGGGAGGAGCAGGAGCGGGTTCTTCGCTACCTGGAGGATGAGGGCAGGAGCAAGGCGCGGAGGAGGGGCCCTGGCCGTGGGGAGGACC
GGAGGAGAGGAAGGAACACCAGCCAGCCGTGGAACCTCAGGTGCAACAGAGACGCCAGGAGATACTAGTGCCCAGCAGCCTGCGGCAGTA
CCAATGAAGCCAGAGAGGGCTTGGTGGATGACAAGGAGGCCTGAGTAGACCGCAGGTGGGTCTGAGAAATGGGCTTAGGTGAGGCAGGTC
TTTGAAGGATTTGTTCTTAATCATATGCGAGATGCTCAAAAGGCTGGATGCCTGCTTTTGTGGGTGAAGAGCAAGAAGAGAAAACAGGTT
GTACACATACAGATGCAGATGGAGAGACAGAGAAAAAAAAGGAAGAAGGCAGAGAAATGCACCAATTCTTGAGCTGTATTATCTCTGGAC
CTTGGGATTGTGGGAGGCTTTATTTTACTACTGATTTTGCCTACACTGTTTTCTCAATTTCTAGTTTTCTACAAAGATGATGTGTTAGCT

>In-frame_R3HDM4_ENST00000587975_chr19_900829_-_NLRP1_ENST00000262467_chr17_5405192_-_983nt
GCCCGCCTCCGGGCGCCCGTCACTTCCTGCCCGGCCCGGTGAAGGCCCTGCCGGGCGGCGGCGGCGGCGACAGCGTGCGAGCCATGGTCG
CGCTGGAGAACCCCGAGTGCGGCCCGGAGGCGGCGGAGGGCACCCCGGGCGGGCGGCGGCTGCTGCGGAAACAGCACTTCATCAACCAGG
CAGTGCGGAACTCAGACCTCGTGCCCAAGGCCAAGGGGCGGAAGAGCCTCCAGCGCCTGGAGAACACCCAGTACCTCCTGACCCTGCTGG
AGACAGACGGGGGCCTGCCTGGCCTGGAGGATGGGGACTTGGCACCCCCTGCATCACCAGGCATCTTTGCCGAGGCCTGCAACAACGCCA
CCTATGTGGAGGTCTGGAACGATTTCATGAACCGCTCCGGGGAGGAGCAGGAGCGGGTTCTTCGCTACCTGGAGGATGAGGGCAGGAGCA
AGGCGCGGAGGAGGGGCCCTGGCCGTGGGGAGGACCGGAGGAGAGGAAGGAACACCAGCCAGCCGTGGAACCTCAGGTGCAACAGAGACG
CCAGGAGATACTAGTGCCCAGCAGCCTGCGGCAGTACCAATGAAGCCAGAGAGGGCTTGGTGGATGACAAGGAGGCCTGAGTAGACCGCA
GGTGGGTCTGAGAAATGGGCTTAGGTGAGGCAGGTCTTTGAAGGATTTGTTCTTAATCATATGCGAGATGCTCAAAAGGCTGGATGCCTG
CTTTTGTGGGTGAAGAGCAAGAAGAGAAAACAGGTTGTACACATACAGATGCAGATGGAGAGACAGAGAAAAAAAAGGAAGAAGGCAGAG
AAATGCACCAATTCTTGAGCTGTATTATCTCTGGACCTTGGGATTGTGGGAGGCTTTATTTTACTACTGATTTTGCCTACACTGTTTTCT


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FusionGenePPI for R3HDM4_NLRP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
R3HDM4UBCNLRP1NLRC4, APAF1, CASP9, CASP2, APOA1, CUL3, TRIM68, CLTC, CSNK1E, EIF6, SMC2, WWP2, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for R3HDM4_NLRP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for R3HDM4_NLRP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNLRP1C1847835VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)2CTD_human;UNIPROT
TgeneNLRP1C3808876CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA1ORPHANET;UNIPROT