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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: 23493

FusionGeneSummary for NBEAL1_CYP20A1

check button Fusion gene summary
Fusion gene informationFusion gene name: NBEAL1_CYP20A1
Fusion gene ID: 23493
HgeneTgene
Gene symbol

NBEAL1

CYP20A1

Gene ID

65065

57404

Gene nameneurobeachin like 1cytochrome P450 family 20 subfamily A member 1
SynonymsA530083I02Rik|ALS2CR16|ALS2CR17CYP-M
Cytomap

2q33.2

2q33.2

Type of geneprotein-codingprotein-coding
Descriptionneurobeachin-like protein 1amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 proteincytochrome P450 20A1cytochrome P450 monooxygenasecytochrome P450, family 20, subfamily A, polypeptide 1
Modification date2018051920180519
UniProtAcc

Q6ZS30

Q6UW02

Ensembl transtripts involved in fusion geneENST00000449802, ENST00000478884, 
ENST00000356079, ENST00000461371, 
ENST00000429815, 
Fusion gene scores* DoF score5 X 5 X 5=1255 X 5 X 3=75
# samples 65
** MAII scorelog2(6/125*10)=-1.05889368905357
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: NBEAL1 [Title/Abstract] AND CYP20A1 [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

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
TCGALDLIHCTCGA-CC-5258-01ANBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
* 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-frameENST00000449802ENST00000356079NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
5CDS-3UTRENST00000449802ENST00000461371NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
5CDS-3UTRENST00000449802ENST00000429815NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
intron-3CDSENST00000478884ENST00000356079NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
intron-3UTRENST00000478884ENST00000461371NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
intron-3UTRENST00000478884ENST00000429815NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+

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FusionProtFeatures for NBEAL1_CYP20A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NBEAL1

Q6ZS30

CYP20A1

Q6UW02


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
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14551883_19806652695DomainBEACH-type PH
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14551992_22846652695DomainBEACH
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14552439_24786652695RepeatNote=WD 1
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14552490_25316652695RepeatNote=WD 2
TgeneCYP20A1chr2:203975005chr2:204131237ENST00000356079+3134_24144463TransmembraneHelical


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FusionGeneSequence for NBEAL1_CYP20A1


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_NBEAL1_ENST00000449802_chr2_203975005_+_CYP20A1_ENST00000356079_chr2_204131237_+_984aa
MASRERLFELWMLYCTKKDPDYLKLWLDTFVSSYEQFLDVDFEKLPTRVDDMPPGISLLPDNILQVLRIQLLQCVQKMADGLEEQQQALS
ILLVKFFIILCRNLSNVEEIGTCSYINYVITMTTLYIQQLKSKKKEKEMADQTCIEEFVIHALAFCESLYDPYRNWRHRISGRILSTVEK
SRQKYKPASLTVEFVPFFYQCFQESEHLKESLKCCLLHLFGAIVAGGQRNALQAISPATMEVLMRVLADCDSWEDGDPEEVGRKAELTLK
CLTEVVHILLSSNSDQRQVETSTILENYFKLLNSDHSALPNQRRSRQWENRFIALQIKMLNTITAMLDCTDRPVLQAIFLNSNCFEHLIR
LLQNCKVFQGQLDCLAISTIQALTAVMNKSPAAKEVFKERIGYTHMLEVLKSLGQPPLELLKELMNMAVEGDHTSVGILGISNVQPLLLL
IQWLPELQSHDLQIFISDWLKRICCINRQSRTTCVNANMGIRIIETLDLHSSLHQTCAENLIAIHGSLGSQSVSSEEIRRLLRLLRVDES
ESVHPYVTPVTRAILTMARKLSLESALQYFNLSHSMAGISVPPIQKWPGSAFSFSAWFCLDQDQLTLGIANKGGKRKQLYSFFTGSGMGF
EAFITHSGMLVVAVCTKREYATVMLPDHSFCDSLWLSEELLDKWLSYPETQHVPLSQHMLGFAMKSVTQMVMGSTFEDDQEVIRFQKNHG
TVWSEIGKGFLDGSLDKNMTRKKQYEDALMQLESVLRNIIKERKGRNFSQHIFIDSLVQGNLNDQQILEDSMIFSLASCIITAKLCTWAI
CFLTTSEEVQKKLYEEINQVFGNGPVTPEKIEQLRYCQHVLCETVRTAKLTPVSAQLQDIEGKIDRFIIPRETLVLYALGVVLQDPNTWP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NBEAL1_ENST00000449802_chr2_203975005_+_CYP20A1_ENST00000356079_chr2_204131237_+_2952nt
ATGGCATCCAGAGAGAGGCTCTTTGAACTTTGGATGCTTTATTGTACAAAGAAAGATCCAGATTACCTGAAGCTGTGGTTGGACACTTTT
GTTTCTAGCTATGAACAATTTTTAGACGTTGACTTTGAAAAGCTGCCTACCAGGGTAGATGATATGCCTCCAGGAATATCTCTGCTTCCT
GATAATATTCTGCAGGTTCTGAGGATCCAGCTTCTACAGTGTGTTCAGAAAATGGCAGATGGGTTAGAGGAACAACAGCAAGCCTTGTCA
ATTTTGCTTGTCAAGTTCTTCATTATTCTTTGCAGAAATCTATCAAATGTGGAAGAAATTGGGACTTGCTCGTACATTAATTATGTCATC
ACCATGACAACACTCTATATTCAGCAATTAAAAAGCAAAAAAAAAGAGAAGGAAATGGCAGATCAGACATGTATTGAAGAATTTGTGATC
CACGCATTGGCATTTTGTGAAAGCTTATATGATCCATATCGGAATTGGAGACATAGAATTTCAGGACGAATCCTTAGTACTGTGGAAAAG
AGCAGACAGAAATATAAACCAGCTTCTCTCACAGTGGAATTCGTCCCTTTCTTTTATCAATGTTTTCAGGAAAGTGAACATCTCAAGGAA
AGTCTTAAATGTTGCTTATTGCATCTCTTTGGAGCCATTGTAGCCGGTGGGCAGAGGAATGCTTTGCAAGCAATTTCTCCAGCCACTATG
GAAGTTCTTATGCGAGTATTGGCAGATTGTGATTCCTGGGAGGATGGAGATCCTGAAGAAGTGGGTAGGAAGGCAGAACTAACTCTGAAG
TGCCTTACAGAAGTGGTACATATCCTTCTCAGTAGCAACTCTGATCAGCGTCAAGTGGAAACCAGTACTATTCTGGAGAACTATTTTAAA
TTGCTAAATTCAGATCATTCAGCTTTACCTAATCAAAGGAGGTCCAGACAGTGGGAAAACCGATTTATTGCTCTACAGATCAAAATGCTG
AATACCATCACAGCCATGTTAGATTGTACAGATAGACCTGTTCTTCAGGCCATTTTTCTTAACAGCAATTGCTTTGAACATCTCATACGA
CTGCTACAGAACTGCAAGGTGTTTCAGGGACAATTGGATTGTTTGGCCATATCAACCATTCAGGCTTTGACCGCAGTAATGAACAAATCT
CCAGCTGCTAAGGAAGTATTTAAAGAAAGAATTGGTTATACACATATGCTTGAAGTATTAAAATCCCTGGGTCAGCCACCACTGGAATTA
CTTAAAGAACTTATGAATATGGCTGTAGAGGGTGACCACACTTCAGTTGGGATTTTGGGCATTAGTAATGTCCAACCTCTCTTGCTTCTT
ATCCAGTGGCTTCCAGAACTACAATCCCATGACCTGCAAATCTTCATCTCTGATTGGCTGAAAAGAATTTGTTGTATTAATAGACAGAGT
CGAACTACTTGTGTCAATGCAAACATGGGGATTAGAATCATTGAAACCCTTGACTTGCATTCTTCCCTCCATCAAACTTGTGCTGAGAAC
TTGATTGCAATCCATGGTTCCTTGGGGAGTCAGTCAGTGAGCTCAGAAGAAATCCGTCGACTACTGAGATTGCTGAGAGTGGATGAATCT
GAGTCTGTTCACCCTTATGTCACTCCCGTGACTCGAGCAATCCTGACAATGGCCCGAAAACTAAGTCTAGAGAGTGCCCTCCAGTATTTC
AATTTGTCACATAGTATGGCAGGAATTTCTGTGCCTCCCATACAGAAATGGCCAGGGTCTGCCTTTTCTTTCAGTGCTTGGTTTTGCTTA
GACCAGGATCAGTTGACTCTTGGCATTGCTAACAAAGGAGGGAAAAGGAAACAATTGTACAGTTTTTTTACAGGAAGTGGCATGGGTTTT
GAAGCCTTTATTACCCATTCAGGTATGTTGGTCGTGGCAGTGTGCACAAAAAGAGAATATGCAACGGTTATGCTTCCTGACCACAGTTTC
TGTGATTCCCTCTGGCTTTCAGAAGAATTATTAGATAAATGGCTCTCCTACCCAGAGACCCAGCACGTGCCCCTCAGCCAGCATATGCTT
GGTTTTGCTATGAAGTCTGTTACACAGATGGTAATGGGTAGTACATTTGAAGATGATCAGGAAGTCATTCGCTTCCAGAAGAATCATGGC
ACAGTTTGGTCTGAGATTGGAAAAGGCTTTCTAGATGGGTCACTTGATAAAAACATGACTCGGAAAAAACAATATGAAGATGCCCTCATG
CAACTGGAGTCTGTTTTAAGGAACATCATAAAAGAACGAAAAGGAAGGAACTTCAGTCAACATATTTTCATTGACTCCTTAGTACAAGGG
AACCTTAATGACCAACAGATCCTAGAAGACAGTATGATATTTTCTCTGGCCAGTTGCATAATAACTGCAAAATTGTGTACCTGGGCAATC
TGTTTTTTAACCACCTCTGAAGAAGTTCAAAAAAAATTATATGAAGAGATAAACCAAGTTTTTGGAAATGGTCCTGTTACTCCAGAGAAA
ATTGAGCAGCTCAGATATTGTCAGCATGTGCTTTGTGAAACTGTTCGAACTGCCAAACTGACTCCAGTTTCTGCCCAGCTTCAAGATATT
GAAGGAAAAATTGACCGATTTATTATTCCTAGAGAGACCCTCGTCCTTTATGCCCTTGGTGTGGTACTTCAGGATCCTAATACTTGGCCA
TCTCCACACAAGTTTGATCCAGATCGGTTTGATGATGAATTAGTAATGAAAACTTTTTCCTCACTTGGATTCTCAGGCACACAGGAGTGT
CCAGAGTTGAGGTTTGCATATATGGTGACCACAGTACTTCTTAGTGTATTGGTGAAGAGACTGCACCTACTTTCTGTGGAGGGACAGGTT


* Fusion transcript sequences (Full-length transcript).
>In-frame_NBEAL1_ENST00000449802_chr2_203975005_+_CYP20A1_ENST00000356079_chr2_204131237_+_3722nt
GCTCGTCTGCCTGGCTGCGGGGTGACACGGGGCTTCGCCTTGGGAAGGGGTCGAGGGAAGCAGTTAGACGGCTGCCGGGCGGCGGCTGCC
GCGCGGCACACAATATTTATTTAATTGCCCAACTACCACTGATGAAGATATATTGGAGTGACTGCTGAAATTGCCTTTTTGTTTTTAACC
AGAGGACAGTCCATTTGTTTCACTTCTTTTTGCTTTCTTTACTGCTATGAGCTTTACTGAACGGCTGAAAAACTTGGAAAATAAAATGGA
CATGCTGTAGTCTTGAACATAATTTTTTTAAGGAAAACTTAAAGTGCCAGAGTGAAAGCCAGAATGGCATCCAGAGAGAGGCTCTTTGAA
CTTTGGATGCTTTATTGTACAAAGAAAGATCCAGATTACCTGAAGCTGTGGTTGGACACTTTTGTTTCTAGCTATGAACAATTTTTAGAC
GTTGACTTTGAAAAGCTGCCTACCAGGGTAGATGATATGCCTCCAGGAATATCTCTGCTTCCTGATAATATTCTGCAGGTTCTGAGGATC
CAGCTTCTACAGTGTGTTCAGAAAATGGCAGATGGGTTAGAGGAACAACAGCAAGCCTTGTCAATTTTGCTTGTCAAGTTCTTCATTATT
CTTTGCAGAAATCTATCAAATGTGGAAGAAATTGGGACTTGCTCGTACATTAATTATGTCATCACCATGACAACACTCTATATTCAGCAA
TTAAAAAGCAAAAAAAAAGAGAAGGAAATGGCAGATCAGACATGTATTGAAGAATTTGTGATCCACGCATTGGCATTTTGTGAAAGCTTA
TATGATCCATATCGGAATTGGAGACATAGAATTTCAGGACGAATCCTTAGTACTGTGGAAAAGAGCAGACAGAAATATAAACCAGCTTCT
CTCACAGTGGAATTCGTCCCTTTCTTTTATCAATGTTTTCAGGAAAGTGAACATCTCAAGGAAAGTCTTAAATGTTGCTTATTGCATCTC
TTTGGAGCCATTGTAGCCGGTGGGCAGAGGAATGCTTTGCAAGCAATTTCTCCAGCCACTATGGAAGTTCTTATGCGAGTATTGGCAGAT
TGTGATTCCTGGGAGGATGGAGATCCTGAAGAAGTGGGTAGGAAGGCAGAACTAACTCTGAAGTGCCTTACAGAAGTGGTACATATCCTT
CTCAGTAGCAACTCTGATCAGCGTCAAGTGGAAACCAGTACTATTCTGGAGAACTATTTTAAATTGCTAAATTCAGATCATTCAGCTTTA
CCTAATCAAAGGAGGTCCAGACAGTGGGAAAACCGATTTATTGCTCTACAGATCAAAATGCTGAATACCATCACAGCCATGTTAGATTGT
ACAGATAGACCTGTTCTTCAGGCCATTTTTCTTAACAGCAATTGCTTTGAACATCTCATACGACTGCTACAGAACTGCAAGGTGTTTCAG
GGACAATTGGATTGTTTGGCCATATCAACCATTCAGGCTTTGACCGCAGTAATGAACAAATCTCCAGCTGCTAAGGAAGTATTTAAAGAA
AGAATTGGTTATACACATATGCTTGAAGTATTAAAATCCCTGGGTCAGCCACCACTGGAATTACTTAAAGAACTTATGAATATGGCTGTA
GAGGGTGACCACACTTCAGTTGGGATTTTGGGCATTAGTAATGTCCAACCTCTCTTGCTTCTTATCCAGTGGCTTCCAGAACTACAATCC
CATGACCTGCAAATCTTCATCTCTGATTGGCTGAAAAGAATTTGTTGTATTAATAGACAGAGTCGAACTACTTGTGTCAATGCAAACATG
GGGATTAGAATCATTGAAACCCTTGACTTGCATTCTTCCCTCCATCAAACTTGTGCTGAGAACTTGATTGCAATCCATGGTTCCTTGGGG
AGTCAGTCAGTGAGCTCAGAAGAAATCCGTCGACTACTGAGATTGCTGAGAGTGGATGAATCTGAGTCTGTTCACCCTTATGTCACTCCC
GTGACTCGAGCAATCCTGACAATGGCCCGAAAACTAAGTCTAGAGAGTGCCCTCCAGTATTTCAATTTGTCACATAGTATGGCAGGAATT
TCTGTGCCTCCCATACAGAAATGGCCAGGGTCTGCCTTTTCTTTCAGTGCTTGGTTTTGCTTAGACCAGGATCAGTTGACTCTTGGCATT
GCTAACAAAGGAGGGAAAAGGAAACAATTGTACAGTTTTTTTACAGGAAGTGGCATGGGTTTTGAAGCCTTTATTACCCATTCAGGTATG
TTGGTCGTGGCAGTGTGCACAAAAAGAGAATATGCAACGGTTATGCTTCCTGACCACAGTTTCTGTGATTCCCTCTGGCTTTCAGAAGAA
TTATTAGATAAATGGCTCTCCTACCCAGAGACCCAGCACGTGCCCCTCAGCCAGCATATGCTTGGTTTTGCTATGAAGTCTGTTACACAG
ATGGTAATGGGTAGTACATTTGAAGATGATCAGGAAGTCATTCGCTTCCAGAAGAATCATGGCACAGTTTGGTCTGAGATTGGAAAAGGC
TTTCTAGATGGGTCACTTGATAAAAACATGACTCGGAAAAAACAATATGAAGATGCCCTCATGCAACTGGAGTCTGTTTTAAGGAACATC
ATAAAAGAACGAAAAGGAAGGAACTTCAGTCAACATATTTTCATTGACTCCTTAGTACAAGGGAACCTTAATGACCAACAGATCCTAGAA
GACAGTATGATATTTTCTCTGGCCAGTTGCATAATAACTGCAAAATTGTGTACCTGGGCAATCTGTTTTTTAACCACCTCTGAAGAAGTT
CAAAAAAAATTATATGAAGAGATAAACCAAGTTTTTGGAAATGGTCCTGTTACTCCAGAGAAAATTGAGCAGCTCAGATATTGTCAGCAT
GTGCTTTGTGAAACTGTTCGAACTGCCAAACTGACTCCAGTTTCTGCCCAGCTTCAAGATATTGAAGGAAAAATTGACCGATTTATTATT
CCTAGAGAGACCCTCGTCCTTTATGCCCTTGGTGTGGTACTTCAGGATCCTAATACTTGGCCATCTCCACACAAGTTTGATCCAGATCGG
TTTGATGATGAATTAGTAATGAAAACTTTTTCCTCACTTGGATTCTCAGGCACACAGGAGTGTCCAGAGTTGAGGTTTGCATATATGGTG
ACCACAGTACTTCTTAGTGTATTGGTGAAGAGACTGCACCTACTTTCTGTGGAGGGACAGGTTATTGAAACAAAGTATGAACTGGTAACA
TCATCAAGGGAAGAAGCTTGGATCACTGTCTCAAAGAGATATTAAAATTTTATACATTTAAAATCATTGTTAAATTGATTGAGGAAAACA
ACCATTTAAAAAAAATCTATGTTGAATCCTTTTATAAACCAGTATCACTTTGTAATATAAACACCTATTTGTACTTAATTTTGTAAATTT
GGATTTTTATATATCATATTTTCTTAATTCATTGTACACATTTGACTTACTGCACAGTATATTGATCATTTTAATGGGAAACTTTAGCTT
TCTACTTTTTATTTTTGTTTTTTCACTTTCTATGCCATTATTTTTGTATTCTTTTTCTTAGTGTGAGCTCTAAAATCAATGTTCTTGAAA
AAGAAATTATTTTGCAGAAGTTGGGGAATCATGTTTGTTGAATATGTATAAAATAGAAACATAGGCTGGGCGCGGTGGCTCACACCTGTA


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FusionGenePPI for NBEAL1_CYP20A1


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
NBEAL1HIF1A, HNRNPA1, HNRNPU, AP1S2, KIF1C, RGMA, CNTROB, CHMP4B, SDC2CYP20A1APP, TP53, PIEZO1, VSIG1, BTNL3


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 NBEAL1_CYP20A1


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 NBEAL1_CYP20A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource