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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: 43717

FusionGeneSummary for ZNF791_ETHE1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF791_ETHE1
Fusion gene ID: 43717
HgeneTgene
Gene symbol

ZNF791

ETHE1

Gene ID

163049

23474

Gene namezinc finger protein 791ETHE1, persulfide dioxygenase
Synonyms-HSCO|YF13H12
Cytomap

19p13.13

19q13.31

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 791persulfide dioxygenase ETHE1, mitochondrialethylmalonic encephalopathy 1hepatoma subtracted clone one proteinprotein ETHE1, mitochondrialsulfur dioxygenase ETHE1
Modification date2018051920180523
UniProtAcc

Q3KP31

O95571

Ensembl transtripts involved in fusion geneENST00000446165, ENST00000343325, 
ENST00000458122, ENST00000540038, 
ENST00000498389, 		ENST00000292147, 
ENST00000600651, 
Fusion gene scores* DoF score6 X 3 X 5=905 X 1 X 4=20
# samples 65
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ZNF791 [Title/Abstract] AND ETHE1 [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
TgeneETHE1

GO:0006749

glutathione metabolic process

23144459

TgeneETHE1

GO:0070813

hydrogen sulfide metabolic process

23144459


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
TCGARVOVTCGA-24-1558-01AZNF791chr19

12721896

+ETHE1chr19

44015718

-
* 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-frameENST00000446165ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
In-frameENST00000446165ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
In-frameENST00000343325ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
In-frameENST00000343325ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000458122ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000458122ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000540038ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000540038ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
3UTR-3CDSENST00000498389ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
3UTR-3CDSENST00000498389ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-

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FusionProtFeatures for ZNF791_ETHE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF791

Q3KP31

ETHE1

O95571

May be involved in transcriptional regulation. Sulfur dioxygenase that plays an essential role inhydrogen sulfide catabolism in the mitochondrial matrix. Hydrogensulfide (H(2)S) is first oxidized by SQRDL, giving rise tocysteine persulfide residues. ETHE1 consumes molecular oxygen tocatalyze the oxidation of the persulfide, once it has beentransferred to a thiophilic acceptor, such as glutathione (R-SSH).Plays an important role in metabolic homeostasis in mitochondriaby metabolizing hydrogen sulfide and preventing the accumulationof supraphysiological H(2)S levels that have toxic effects, due tothe inhibition of cytochrome c oxidase. First described as aprotein that can shuttle between the nucleus and the cytoplasm andsuppress p53-induced apoptosis by sequestering the transcriptionfactor RELA/NFKB3 in the cytoplasm and preventing its accumulationin the nucleus (PubMed:12398897). {ECO:0000269|PubMed:12398897,ECO:0000269|PubMed:14732903, ECO:0000269|PubMed:19136963,ECO:0000269|PubMed:23144459}.

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

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+144_901577DomainKRAB
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14100_1221577Zinc fingerC2H2-type 1
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14132_1541577Zinc fingerC2H2-type 2
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14160_1821577Zinc fingerC2H2-type 3
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14188_2101577Zinc fingerC2H2-type 4
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14216_2381577Zinc fingerC2H2-type 5
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14244_2661577Zinc fingerC2H2-type 6
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14272_2941577Zinc fingerC2H2-type 7
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14300_3221577Zinc fingerC2H2-type 8
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14328_3501577Zinc fingerC2H2-type 9
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14356_3781577Zinc fingerC2H2-type 10
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14384_4061577Zinc fingerC2H2-type 11
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14412_4341577Zinc fingerC2H2-type 12
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14440_4621577Zinc fingerC2H2-type 13
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14468_4901577Zinc fingerC2H2-type 14
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14496_5181577Zinc fingerC2H2-type 15
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14524_5461577Zinc fingerC2H2-type 16
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14552_5741577Zinc fingerC2H2-type 17


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FusionGeneSequence for ZNF791_ETHE1


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_ZNF791_ENST00000446165_chr19_12721896_+_ETHE1_ENST00000292147_chr19_44015718_-_131aa
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

>In-frame_ZNF791_ENST00000446165_chr19_12721896_+_ETHE1_ENST00000600651_chr19_44015718_-_137aa
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

>In-frame_ZNF791_ENST00000343325_chr19_12721896_+_ETHE1_ENST00000292147_chr19_44015718_-_131aa
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

>In-frame_ZNF791_ENST00000343325_chr19_12721896_+_ETHE1_ENST00000600651_chr19_44015718_-_137aa
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ZNF791_ENST00000446165_chr19_12721896_+_ETHE1_ENST00000292147_chr19_44015718_-_393nt
ATGGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGAT
GCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACA
CTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGG
CTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAAC

>In-frame_ZNF791_ENST00000446165_chr19_12721896_+_ETHE1_ENST00000600651_chr19_44015718_-_411nt
ATGGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGAT
GCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACA
CTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGG
CTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGGTGAGCAGCTGGGGACCTGG

>In-frame_ZNF791_ENST00000343325_chr19_12721896_+_ETHE1_ENST00000292147_chr19_44015718_-_393nt
ATGGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGAT
GCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACA
CTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGG
CTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAAC

>In-frame_ZNF791_ENST00000343325_chr19_12721896_+_ETHE1_ENST00000600651_chr19_44015718_-_411nt
ATGGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGAT
GCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACA
CTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGG
CTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGGTGAGCAGCTGGGGACCTGG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ZNF791_ENST00000446165_chr19_12721896_+_ETHE1_ENST00000292147_chr19_44015718_-_686nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAG
ACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACC

>In-frame_ZNF791_ENST00000446165_chr19_12721896_+_ETHE1_ENST00000600651_chr19_44015718_-_818nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGGTGAGCAGCTGGGGACCTGGACTTCTGGGTCTGAGAGA
GGAGGGGCTGGGGTCTTGGACTCCTGGGTCTGAGAGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC
TGGACTCCTGGGTCTGAGGGAGGAGAGGCTGGGGGCCTGGACTCCTGGGTCTAAGGGAGGAGGGGCTGGGGGACTGGACTCCTGGGTCTG
AGGCAGTAGGGGCTGGGGGCCTGGACTCCTGGCTCTGAGGGAGTAGGGGCTGGGCTGGGGGCCTGGGCTCCTGAGTCTGAGGGAGGAGGG

>In-frame_ZNF791_ENST00000343325_chr19_12721896_+_ETHE1_ENST00000292147_chr19_44015718_-_686nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAG
ACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACC

>In-frame_ZNF791_ENST00000343325_chr19_12721896_+_ETHE1_ENST00000600651_chr19_44015718_-_818nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGGTGAGCAGCTGGGGACCTGGACTTCTGGGTCTGAGAGA
GGAGGGGCTGGGGTCTTGGACTCCTGGGTCTGAGAGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC
TGGACTCCTGGGTCTGAGGGAGGAGAGGCTGGGGGCCTGGACTCCTGGGTCTAAGGGAGGAGGGGCTGGGGGACTGGACTCCTGGGTCTG
AGGCAGTAGGGGCTGGGGGCCTGGACTCCTGGCTCTGAGGGAGTAGGGGCTGGGCTGGGGGCCTGGGCTCCTGAGTCTGAGGGAGGAGGG


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FusionGenePPI for ZNF791_ETHE1


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
ZNF791HRC, EFEMP1ETHE1IGSF21, LRIF1, RELA, TP53, HDAC1, APP, FGL1, IDH1, NDUFS7


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 ZNF791_ETHE1


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 ZNF791_ETHE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneETHE1C1865349Ethylmalonic encephalopathy2CTD_human;ORPHANET;UNIPROT