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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: 43290

FusionGeneSummary for ZNF417_BAX

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF417_BAX
Fusion gene ID: 43290
HgeneTgene
Gene symbol

ZNF417

BAX

Gene ID

147687

581

Gene namezinc finger protein 417BCL2 associated X, apoptosis regulator
Synonyms-BCL2L4
Cytomap

19q13.43

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 417apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4
Modification date2018052320180527
UniProtAcc

Q8TAU3

Q07812

Ensembl transtripts involved in fusion geneENST00000312026, ENST00000536263, 
ENST00000595559, 		ENST00000539787, 
ENST00000345358, ENST00000391871, 
ENST00000415969, ENST00000354470, 
ENST00000293288, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 1 X 2=4
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/4*10)=2.32192809488736
Context

PubMed: ZNF417 [Title/Abstract] AND BAX [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneBAX

GO:0001783

B cell apoptotic process

15214043|16424160

TgeneBAX

GO:0001836

release of cytochrome c from mitochondria

9843949|16199525|17052454

TgeneBAX

GO:0006915

apoptotic process

9660918

TgeneBAX

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

11912183

TgeneBAX

GO:0008053

mitochondrial fusion

14769861

TgeneBAX

GO:0008635

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c

15214043

TgeneBAX

GO:0008637

apoptotic mitochondrial changes

9843949

TgeneBAX

GO:0009636

response to toxic substance

16307838

TgeneBAX

GO:0010248

establishment or maintenance of transmembrane electrochemical gradient

9843949

TgeneBAX

GO:0032091

negative regulation of protein binding

9388232

TgeneBAX

GO:0032461

positive regulation of protein oligomerization

19805544

TgeneBAX

GO:0032976

release of matrix enzymes from mitochondria

9843949

TgeneBAX

GO:0043065

positive regulation of apoptotic process

17464193

TgeneBAX

GO:0043496

regulation of protein homodimerization activity

9111042

TgeneBAX

GO:0043525

positive regulation of neuron apoptotic process

15637643

TgeneBAX

GO:0043653

mitochondrial fragmentation involved in apoptotic process

12499352

TgeneBAX

GO:0051259

protein complex oligomerization

19074440

TgeneBAX

GO:0051260

protein homooligomerization

14522999|19767770

TgeneBAX

GO:0051881

regulation of mitochondrial membrane potential

9843949

TgeneBAX

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

TgeneBAX

GO:0097190

apoptotic signaling pathway

16424160

TgeneBAX

GO:0097191

extrinsic apoptotic signaling pathway

15214043

TgeneBAX

GO:0097193

intrinsic apoptotic signaling pathway

9219694|16462759

TgeneBAX

GO:1990117

B cell receptor apoptotic signaling pathway

15214043


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-50-6591-01AZNF417chr19

58423428

-BAXchr19

49464067

+
* 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-frameENST00000312026ENST00000539787ZNF417chr19

58423428

-BAXchr19

49464067

+
Frame-shiftENST00000312026ENST00000345358ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000312026ENST00000391871ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000312026ENST00000415969ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000312026ENST00000354470ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000312026ENST00000293288ZNF417chr19

58423428

-BAXchr19

49464067

+
5UTR-3CDSENST00000536263ENST00000539787ZNF417chr19

58423428

-BAXchr19

49464067

+
5UTR-3CDSENST00000536263ENST00000345358ZNF417chr19

58423428

-BAXchr19

49464067

+
5UTR-3UTRENST00000536263ENST00000391871ZNF417chr19

58423428

-BAXchr19

49464067

+
5UTR-3UTRENST00000536263ENST00000415969ZNF417chr19

58423428

-BAXchr19

49464067

+
5UTR-3UTRENST00000536263ENST00000354470ZNF417chr19

58423428

-BAXchr19

49464067

+
5UTR-3UTRENST00000536263ENST00000293288ZNF417chr19

58423428

-BAXchr19

49464067

+
In-frameENST00000595559ENST00000539787ZNF417chr19

58423428

-BAXchr19

49464067

+
Frame-shiftENST00000595559ENST00000345358ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000595559ENST00000391871ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000595559ENST00000415969ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000595559ENST00000354470ZNF417chr19

58423428

-BAXchr19

49464067

+
5CDS-3UTRENST00000595559ENST00000293288ZNF417chr19

58423428

-BAXchr19

49464067

+

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FusionProtFeatures for ZNF417_BAX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF417

Q8TAU3

BAX

Q07812

May be involved in transcriptional regulation.

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
TgeneBAXchr19:58423428chr19:49464067ENST00000293288+35150_165123219MotifNote=BH2
TgeneBAXchr19:58423428chr19:49464067ENST00000345358+36150_165123193MotifNote=BH2
TgeneBAXchr19:58423428chr19:49464067ENST00000354470+25150_16574144MotifNote=BH2
TgeneBAXchr19:58423428chr19:49464067ENST00000354470+2598_11874144MotifNote=BH1
TgeneBAXchr19:58423428chr19:49464067ENST00000391871+25150_16510588MotifNote=BH2
TgeneBAXchr19:58423428chr19:49464067ENST00000415969+36150_165123180MotifNote=BH2
TgeneBAXchr19:58423428chr19:49464067ENST00000293288+35172_192123219TransmembraneHelical
TgeneBAXchr19:58423428chr19:49464067ENST00000345358+36172_192123193TransmembraneHelical
TgeneBAXchr19:58423428chr19:49464067ENST00000354470+25172_19274144TransmembraneHelical
TgeneBAXchr19:58423428chr19:49464067ENST00000391871+25172_19210588TransmembraneHelical
TgeneBAXchr19:58423428chr19:49464067ENST00000415969+36172_192123180TransmembraneHelical
TgeneBAXchr19:58423428chr19:49464067ENST00000539787+47172_192155205TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-2315_8854576DomainKRAB
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23240_26254576Zinc fingerC2H2-type 2
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23268_29054576Zinc fingerC2H2-type 3
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23296_31854576Zinc fingerC2H2-type 4
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23324_34654576Zinc fingerC2H2-type 5%3B degenerate
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23352_37454576Zinc fingerC2H2-type 6
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23380_40254576Zinc fingerC2H2-type 7
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23408_43054576Zinc fingerC2H2-type 8
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23436_45854576Zinc fingerC2H2-type 9
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23464_48654576Zinc fingerC2H2-type 10
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23492_51454576Zinc fingerC2H2-type 11
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23520_54254576Zinc fingerC2H2-type 12
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-23548_57054576Zinc fingerC2H2-type 13
HgeneZNF417chr19:58423428chr19:49464067ENST00000312026-2392_11454576Zinc fingerC2H2-type 1
TgeneBAXchr19:58423428chr19:49464067ENST00000293288+3559_73123219MotifNote=BH3
TgeneBAXchr19:58423428chr19:49464067ENST00000293288+3598_118123219MotifNote=BH1
TgeneBAXchr19:58423428chr19:49464067ENST00000345358+3659_73123193MotifNote=BH3
TgeneBAXchr19:58423428chr19:49464067ENST00000345358+3698_118123193MotifNote=BH1
TgeneBAXchr19:58423428chr19:49464067ENST00000354470+2559_7374144MotifNote=BH3
TgeneBAXchr19:58423428chr19:49464067ENST00000391871+2559_7310588MotifNote=BH3
TgeneBAXchr19:58423428chr19:49464067ENST00000391871+2598_11810588MotifNote=BH1
TgeneBAXchr19:58423428chr19:49464067ENST00000415969+3659_73123180MotifNote=BH3
TgeneBAXchr19:58423428chr19:49464067ENST00000415969+3698_118123180MotifNote=BH1
TgeneBAXchr19:58423428chr19:49464067ENST00000539787+47150_165155205MotifNote=BH2
TgeneBAXchr19:58423428chr19:49464067ENST00000539787+4759_73155205MotifNote=BH3
TgeneBAXchr19:58423428chr19:49464067ENST00000539787+4798_118155205MotifNote=BH1


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FusionGeneSequence for ZNF417_BAX


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_ZNF417_ENST00000312026_chr19_58423428_-_BAX_ENST00000539787_chr19_49464067_+_63aa

>In-frame_ZNF417_ENST00000595559_chr19_58423428_-_BAX_ENST00000539787_chr19_49464067_+_62aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ZNF417_ENST00000312026_chr19_58423428_-_BAX_ENST00000539787_chr19_49464067_+_191nt
ATGGCAGCGGCTGCGCCGAGGCGCCCGACTCAGCAGGGCACTGTGACCTTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAGTGGTGT
CTTCTTAGTGAGGCTCAGAGGTGCTTGTACCGTGATGTGATGCTAGAGAACCTGGCTCTCATATCCTCGCTGGGCCCTGTGCACCAAGGT

>In-frame_ZNF417_ENST00000595559_chr19_58423428_-_BAX_ENST00000539787_chr19_49464067_+_188nt
ATGGCAGCGGCTGCGCCGAGGCGCCCGACTCAGGGCACTGTGACCTTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAGTGGTGTCTT
CTTAGTGAGGCTCAGAGGTGCTTGTACCGTGATGTGATGCTAGAGAACCTGGCTCTCATATCCTCGCTGGGCCCTGTGCACCAAGGTGCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_ZNF417_ENST00000312026_chr19_58423428_-_BAX_ENST00000539787_chr19_49464067_+_658nt
CGGTGACGCGGGTGTTTCCCCAGTTTGTGGCCCCTGAGTGCTGGGGGGGGACCGCGGTGACTGAACCTAGAAGGTGGAGAGGAATCGTCC
TCGGTGCCCAGAGGCGGCTCTGCAGCCCCGTGACGGCGACCACTGCTCCCGGGCCGTGCTTCCCCAAGTAGTCCGATGGCAGCGGCTGCG
CCGAGGCGCCCGACTCAGCAGGGCACTGTGACCTTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAGTGGTGTCTTCTTAGTGAGGCT
CAGAGGTGCTTGTACCGTGATGTGATGCTAGAGAACCTGGCTCTCATATCCTCGCTGGGCCCTGTGCACCAAGGTGCCGGAACTGATCAG
AACCATCATGGGCTGGACATTGGACTTCCTCCGGGAGCGGCTGTTGGGCTGGATCCAAGACCAGGGTGGTTGGACCGTGACCATCTTTGT
GGCGGGAGTGCTCACCGCCTCACTCACCATCTGGAAGAAGATGGGCTGAGGCCCCCAGCTGCCTTGGACTGTGTTTTTCCTCCATAAATT
ATGGCATTTTTCTGGGAGGGGTGGGGATTGGGGGACGTGGGCATTTTTCTTACTTTTGTAATTATTGGGGGGTGTGGGGAAGAGTGGTCT

>In-frame_ZNF417_ENST00000595559_chr19_58423428_-_BAX_ENST00000539787_chr19_49464067_+_670nt
GTAGCGGCTGTGTATCGGTGACGCGGGTGTTTCCCCAGTTTGTGGCCCCTGAGTGCTGGGGGGGGACCGCGGTGACTGAACCTAGAAGGT
GGAGAGGAATCGTCCTCGGTGCCCAGAGGCGGCTCTGCAGCCCCGTGACGGCGACCACTGCTCCCGGGCCGTGCTTCCCCAAGTAGTCCG
ATGGCAGCGGCTGCGCCGAGGCGCCCGACTCAGGGCACTGTGACCTTTGAAGATGTGGCTGTGAACTTTTCCCAGGAGGAGTGGTGTCTT
CTTAGTGAGGCTCAGAGGTGCTTGTACCGTGATGTGATGCTAGAGAACCTGGCTCTCATATCCTCGCTGGGCCCTGTGCACCAAGGTGCC
GGAACTGATCAGAACCATCATGGGCTGGACATTGGACTTCCTCCGGGAGCGGCTGTTGGGCTGGATCCAAGACCAGGGTGGTTGGACCGT
GACCATCTTTGTGGCGGGAGTGCTCACCGCCTCACTCACCATCTGGAAGAAGATGGGCTGAGGCCCCCAGCTGCCTTGGACTGTGTTTTT
CCTCCATAAATTATGGCATTTTTCTGGGAGGGGTGGGGATTGGGGGACGTGGGCATTTTTCTTACTTTTGTAATTATTGGGGGGTGTGGG


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FusionGenePPI for ZNF417_BAX


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
ZNF417ZBTB43, CCDC85B, BEGAIN, KRTAP4-12, CEP72, MDFI, TRIM37, PHC2, FHL2, FHL3, GOLGA2, KRTAP5-9, KRT15, MEOX2, PLSCR1, REL, TRIM27, TCF4, TRAF1, STX11, KRT38, TMCC2, SPRY2, EFS, IKZF1, PNMA2, RUNDC3A, MID2, ZBTB1, NINL, MTUS2, TENC1, TFIP11, ADAMTSL4, TRIM36, RPGRIP1, TRIM54, CARD9, CSRNP1, CCDC136, ZBTB10, KXD1, HMBOX1, BEND5, CEP70, TSGA10, CEP44, NDEL1, LZTS2, ZNF587, KRTAP4-2, TRIM41, SSX2IP, FSD2, KRT40, KLC3, CCDC57, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-5, KRTAP10-8, KRTAP10-3, NOTCH2NL, LURAP1, ZBTB8A, CCNDBP1BAXBCL2A1, PMAIP1, BCL2, BCL2L1, VDAC1, BCL2L10, YWHAQ, HSPD1, SH3GLB1, BAX, SLC25A4, MOAP1, MCL1, BAK1, BCL2L2, MEPCE, TOMM40, TOMM22, RNF144B, XRCC6, UHRF2, PARK7, PSMC3, PSMC5, HDAC6, BAD, XRCC5, CLU, KCNA3, XIAP, HSPA4, CRYAA, CRYAB, VCP, YWHAB, BAG3, ZBTB24, CASP9, CASP8, CASP7, CASP3, CYCS, GIMAP5, SEPT7, LRRK2, BCL2L12, BCL2L11, PKM, PCBP1, PRDX1, PRDX2, SERPINH1, ERCC6, LIG3, YY1, GEMIN2, PNPLA6, PRSS23, EDRF1, NIN, BDP1, NSFL1C, ATAD5, C18orf21, SERPINB12, BID, SNCA, TP53, COQ9, C15orf48, OCIAD1, PPM1J, BCL2L15, HSD17B10, ND5, 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 ZNF417_BAX


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 ZNF417_BAX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBAXC0027051Myocardial Infarction2CTD_human
TgeneBAXC0002395Alzheimer's Disease1CTD_human
TgeneBAXC0009375Colonic Neoplasms1CTD_human
TgeneBAXC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneBAXC0014859Esophageal Neoplasms1CTD_human
TgeneBAXC0019693HIV Infections1CTD_human
TgeneBAXC0021364Male infertility1CTD_human
TgeneBAXC0021841Intestinal Neoplasms1CTD_human
TgeneBAXC0022116Ischemia1CTD_human
TgeneBAXC0027055Myocardial Reperfusion Injury1CTD_human
TgeneBAXC0027746Nerve Degeneration1CTD_human
TgeneBAXC0032460Polycystic Ovary Syndrome1CTD_human
TgeneBAXC0033578Prostatic Neoplasms1CTD_human
TgeneBAXC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneBAXC0920269Microsatellite Instability1CTD_human
TgeneBAXC1458155Mammary Neoplasms1CTD_human
TgeneBAXC2609414Acute kidney injury1CTD_human
TgeneBAXC2937358Cerebral Hemorrhage1CTD_human
TgeneBAXC4277682Chemical and Drug Induced Liver Injury1CTD_human