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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: 10885

FusionGeneSummary for ECE1_NIPAL3

check button Fusion gene summary
Fusion gene informationFusion gene name: ECE1_NIPAL3
Fusion gene ID: 10885
HgeneTgene
Gene symbol

ECE1

NIPAL3

Gene ID

1889

57185

Gene nameendothelin converting enzyme 1NIPA like domain containing 3
SynonymsECEDJ462O23.2|NPAL3
Cytomap

1p36.12

1p36.11

Type of geneprotein-codingprotein-coding
Descriptionendothelin-converting enzyme 1ECE-1NIPA-like protein 3
Modification date2018051920180523
UniProtAcc

P42892

Q6P499

Ensembl transtripts involved in fusion geneENST00000415912, ENST00000357071, 
ENST00000374893, ENST00000436918, 
ENST00000264205, ENST00000528294, 
ENST00000374399, ENST00000003912, 
ENST00000358028, ENST00000339255, 
ENST00000428131, ENST00000488155, 
Fusion gene scores* DoF score13 X 11 X 6=8585 X 5 X 3=75
# samples 145
** MAII scorelog2(14/858*10)=-2.61555082055458
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ECE1 [Title/Abstract] AND NIPAL3 [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
HgeneECE1

GO:0010814

substance P catabolic process

18039931

HgeneECE1

GO:0010815

bradykinin catabolic process

18039931

HgeneECE1

GO:0010816

calcitonin catabolic process

18039931

HgeneECE1

GO:0016485

protein processing

7805846

HgeneECE1

GO:0016486

peptide hormone processing

7864876

HgeneECE1

GO:0034959

endothelin maturation

7805846

HgeneECE1

GO:0042447

hormone catabolic process

7864876


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
TCGALDLUADTCGA-75-5147-01AECE1chr1

21671869

-NIPAL3chr1

24766662

+
* 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-frameENST00000415912ENST00000374399ECE1chr1

21671869

-NIPAL3chr1

24766662

+
5CDS-5UTRENST00000415912ENST00000003912ECE1chr1

21671869

-NIPAL3chr1

24766662

+
5CDS-5UTRENST00000415912ENST00000358028ECE1chr1

21671869

-NIPAL3chr1

24766662

+
5CDS-5UTRENST00000415912ENST00000339255ECE1chr1

21671869

-NIPAL3chr1

24766662

+
5CDS-5UTRENST00000415912ENST00000428131ECE1chr1

21671869

-NIPAL3chr1

24766662

+
5CDS-intronENST00000415912ENST00000488155ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-3CDSENST00000357071ENST00000374399ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000357071ENST00000003912ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000357071ENST00000358028ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000357071ENST00000339255ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000357071ENST00000428131ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-intronENST00000357071ENST00000488155ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-3CDSENST00000374893ENST00000374399ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000374893ENST00000003912ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000374893ENST00000358028ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000374893ENST00000339255ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000374893ENST00000428131ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-intronENST00000374893ENST00000488155ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-3CDSENST00000436918ENST00000374399ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000436918ENST00000003912ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000436918ENST00000358028ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000436918ENST00000339255ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000436918ENST00000428131ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-intronENST00000436918ENST00000488155ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-3CDSENST00000264205ENST00000374399ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000264205ENST00000003912ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000264205ENST00000358028ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000264205ENST00000339255ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000264205ENST00000428131ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-intronENST00000264205ENST00000488155ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-3CDSENST00000528294ENST00000374399ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000528294ENST00000003912ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000528294ENST00000358028ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000528294ENST00000339255ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-5UTRENST00000528294ENST00000428131ECE1chr1

21671869

-NIPAL3chr1

24766662

+
intron-intronENST00000528294ENST00000488155ECE1chr1

21671869

-NIPAL3chr1

24766662

+

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FusionProtFeatures for ECE1_NIPAL3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ECE1

P42892

NIPAL3

Q6P499


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
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+21318_21-51325Compositional biasNote=Poly-Ser
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213101_121-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213135_155-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213171_191-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213202_222-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213240_260-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213271_291-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+213300_320-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+21333_53-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000003912+21376_96-51325TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18101_12131227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18135_15531227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18171_19131227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18202_22231227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18240_26031227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18271_29131227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+18300_32031227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+1833_5331227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+1876_9631227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112101_12131407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112135_15531407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112171_19131407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112202_22231407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112240_26031407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112271_29131407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+112300_32031407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+11233_5331407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+11276_9631407TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07101_12131227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07135_15531227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07171_19131227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07202_22231227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07240_26031227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07271_29131227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+07300_32031227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+0733_5331227TransmembraneHelical
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+0776_9631227TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneECE1chr1:21671869chr1:24766662ENST00000264205-1181_68-20768Topological domainCytoplasmic
HgeneECE1chr1:21671869chr1:24766662ENST00000264205-11890_770-20768Topological domainExtracellular
HgeneECE1chr1:21671869chr1:24766662ENST00000357071-1171_68-39759Topological domainCytoplasmic
HgeneECE1chr1:21671869chr1:24766662ENST00000357071-11790_770-39759Topological domainExtracellular
HgeneECE1chr1:21671869chr1:24766662ENST00000374893-1191_68-25771Topological domainCytoplasmic
HgeneECE1chr1:21671869chr1:24766662ENST00000374893-11990_770-25771Topological domainExtracellular
HgeneECE1chr1:21671869chr1:24766662ENST00000415912-1191_681755Topological domainCytoplasmic
HgeneECE1chr1:21671869chr1:24766662ENST00000415912-11990_7701755Topological domainExtracellular
HgeneECE1chr1:21671869chr1:24766662ENST00000264205-11869_89-20768TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneECE1chr1:21671869chr1:24766662ENST00000357071-11769_89-39759TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneECE1chr1:21671869chr1:24766662ENST00000374893-11969_89-25771TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneECE1chr1:21671869chr1:24766662ENST00000415912-11969_891755TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000358028+1818_2131227Compositional biasNote=Poly-Ser
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000374399+11218_2131407Compositional biasNote=Poly-Ser
TgeneNIPAL3chr1:21671869chr1:24766662ENST00000428131+0718_2131227Compositional biasNote=Poly-Ser


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FusionGeneSequence for ECE1_NIPAL3


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_ECE1_ENST00000415912_chr1_21671869_-_NIPAL3_ENST00000374399_chr1_24766662_+_377aa
MENLIGALLAIFGHLVVSIALNLQKYCHIRLAGSKDPRAYFKTKTWWLGLFLMLLGELGVFASYAFAPLSLIVPLSAVSVIASAIIGIIF
IKEKWKPKDFLRRYVLSFVGCGLAVVGTYLLVTFAPNSHEKMTGENVTRHLVSWPFLLYMLVEIILFCLLLYFYKEKNANNIVVILLLVA
LLGSMTVVTVKAVAGMLVLSIQGNLQLDYPIFYVMFVCMVATAVYQAAFLSQASQMYDSSLIASVGYILSTTIAITAGAIFYLDFIGEDV
LHICMFALGCLIAFLGVFLITRNRKKPIPFEPYISMDAMPGMQNMHDKGMTVQPELKASFSYGALENNDNISEIYAPATLPVMQEEHGSR


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ECE1_ENST00000415912_chr1_21671869_-_NIPAL3_ENST00000374399_chr1_24766662_+_1131nt
ATGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGAAGTACTGCCACATCCGC
CTGGCAGGCTCCAAGGATCCCCGGGCCTATTTCAAGACCAAGACATGGTGGCTGGGCCTGTTCCTGATGCTTCTGGGCGAGCTGGGTGTG
TTCGCCTCCTACGCCTTCGCGCCGCTGTCACTCATCGTGCCCCTCAGCGCAGTTTCTGTGATAGCTAGTGCCATCATAGGAATCATATTC
ATCAAGGAAAAGTGGAAACCGAAAGACTTTCTGAGGCGCTACGTCTTGTCCTTTGTTGGCTGCGGTTTGGCTGTCGTGGGTACCTACCTG
CTGGTGACATTCGCACCCAACAGTCACGAGAAGATGACAGGCGAGAATGTCACCAGGCACCTCGTGAGCTGGCCTTTCCTTTTGTACATG
CTGGTGGAGATCATTCTGTTCTGCTTGCTGCTCTACTTCTACAAGGAGAAGAACGCCAACAACATTGTCGTGATTCTTCTCTTGGTGGCG
TTACTTGGCTCCATGACAGTGGTGACAGTCAAGGCCGTGGCTGGGATGCTTGTCTTGTCCATTCAAGGGAACCTGCAGCTTGACTACCCC
ATCTTCTACGTGATGTTCGTGTGCATGGTGGCAACCGCCGTCTATCAGGCTGCGTTTTTGAGTCAAGCCTCACAGATGTACGACTCCTCT
TTGATTGCCAGTGTGGGCTACATTCTGTCCACAACCATTGCTATCACAGCAGGTGCAATATTTTACCTGGACTTCATCGGGGAGGACGTG
CTGCACATCTGCATGTTTGCACTGGGGTGCCTCATTGCATTCTTGGGCGTCTTCTTAATCACGCGTAACAGGAAGAAGCCCATTCCATTT
GAGCCCTATATTTCCATGGATGCCATGCCAGGTATGCAGAACATGCACGATAAAGGGATGACTGTCCAGCCTGAACTTAAAGCTTCTTTT
TCCTATGGGGCTCTGGAAAACAATGACAACATTTCTGAGATCTACGCTCCTGCCACCCTGCCAGTCATGCAAGAAGAGCACGGCTCCAGA


* Fusion transcript sequences (Full-length transcript).
>In-frame_ECE1_ENST00000415912_chr1_21671869_-_NIPAL3_ENST00000374399_chr1_24766662_+_1379nt
GAGCGCGCCGCCTGGGCCAGGCAGCCGAGCCGTCCGAGCAGCTGGGCTGGGAGCAGGGAACCCGGAGCTGGGAATCGGGAGCCGGGCGCG
GGGAGCTGCGCGAAGCCGGGGCGGAGCACGCGAGCTATGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGC
ATTGCACTTAACCTCCAGAAGTACTGCCACATCCGCCTGGCAGGCTCCAAGGATCCCCGGGCCTATTTCAAGACCAAGACATGGTGGCTG
GGCCTGTTCCTGATGCTTCTGGGCGAGCTGGGTGTGTTCGCCTCCTACGCCTTCGCGCCGCTGTCACTCATCGTGCCCCTCAGCGCAGTT
TCTGTGATAGCTAGTGCCATCATAGGAATCATATTCATCAAGGAAAAGTGGAAACCGAAAGACTTTCTGAGGCGCTACGTCTTGTCCTTT
GTTGGCTGCGGTTTGGCTGTCGTGGGTACCTACCTGCTGGTGACATTCGCACCCAACAGTCACGAGAAGATGACAGGCGAGAATGTCACC
AGGCACCTCGTGAGCTGGCCTTTCCTTTTGTACATGCTGGTGGAGATCATTCTGTTCTGCTTGCTGCTCTACTTCTACAAGGAGAAGAAC
GCCAACAACATTGTCGTGATTCTTCTCTTGGTGGCGTTACTTGGCTCCATGACAGTGGTGACAGTCAAGGCCGTGGCTGGGATGCTTGTC
TTGTCCATTCAAGGGAACCTGCAGCTTGACTACCCCATCTTCTACGTGATGTTCGTGTGCATGGTGGCAACCGCCGTCTATCAGGCTGCG
TTTTTGAGTCAAGCCTCACAGATGTACGACTCCTCTTTGATTGCCAGTGTGGGCTACATTCTGTCCACAACCATTGCTATCACAGCAGGT
GCAATATTTTACCTGGACTTCATCGGGGAGGACGTGCTGCACATCTGCATGTTTGCACTGGGGTGCCTCATTGCATTCTTGGGCGTCTTC
TTAATCACGCGTAACAGGAAGAAGCCCATTCCATTTGAGCCCTATATTTCCATGGATGCCATGCCAGGTATGCAGAACATGCACGATAAA
GGGATGACTGTCCAGCCTGAACTTAAAGCTTCTTTTTCCTATGGGGCTCTGGAAAACAATGACAACATTTCTGAGATCTACGCTCCTGCC
ACCCTGCCAGTCATGCAAGAAGAGCACGGCTCCAGAAGTGCCTCTGGGGTCCCCTACCGAGTCCTAGAGCACACCAAGAAGGAATGAGAC
TCGCCTCCCTCTATTTATAACTGTCCCCTCCAGGCTGACAGTGGTTCAACCCTGAATCCTAAAACTTGCCTTTCAAGTCTCATTTTGTTT


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FusionGenePPI for ECE1_NIPAL3


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
ECE1MYOC, SSR4, LAMTOR2, RPS26, RPSA, DNAJC5, DBN1, FKBP10, RPL19, FAF2, VMA21, CALCA, AGT, KNG1, FBXO6, CLK2, KRTAP10-1, KRTAP10-5, PTPRK, LGALS3, CLK1, LGALS9, LGALS8, NPB, FUT3, SUSD4, C7orf69, MTNR1ANIPAL3ELAVL1, EDA, VPS45, LMNA


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 ECE1_NIPAL3


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 ECE1_NIPAL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneECE1C0018798Congenital Heart Defects2CTD_human
HgeneECE1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneECE1C0019569Hirschsprung Disease1CTD_human;HPO;ORPHANET
HgeneECE1C0020538Hypertensive disease1CTD_human
HgeneECE1C0376634Craniofacial Abnormalities1CTD_human
HgeneECE1C1145628Autonomic nervous system disorders1CTD_human;HPO
HgeneECE1C3151237Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction1UNIPROT
TgeneNIPAL3C0033578Prostatic Neoplasms1CTD_human