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Fusion gene ID: 23493 |
FusionGeneSummary for NBEAL1_CYP20A1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: NBEAL1_CYP20A1 | Fusion gene ID: 23493 | Hgene | Tgene | Gene symbol | NBEAL1 | CYP20A1 | Gene ID | 65065 | 57404 |
Gene name | neurobeachin like 1 | cytochrome P450 family 20 subfamily A member 1 | |
Synonyms | A530083I02Rik|ALS2CR16|ALS2CR17 | CYP-M | |
Cytomap | 2q33.2 | 2q33.2 | |
Type of gene | protein-coding | protein-coding | |
Description | neurobeachin-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 protein | cytochrome P450 20A1cytochrome P450 monooxygenasecytochrome P450, family 20, subfamily A, polypeptide 1 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q6ZS30 | Q6UW02 | |
Ensembl transtripts involved in fusion gene | ENST00000449802, ENST00000478884, | ENST00000356079, ENST00000461371, ENST00000429815, | |
Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 5 X 5 X 3=75 |
# samples | 6 | 5 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | LIHC | TCGA-CC-5258-01A | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000449802 | ENST00000356079 | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
5CDS-3UTR | ENST00000449802 | ENST00000461371 | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
5CDS-3UTR | ENST00000449802 | ENST00000429815 | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
intron-3CDS | ENST00000478884 | ENST00000356079 | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
intron-3UTR | ENST00000478884 | ENST00000461371 | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
intron-3UTR | ENST00000478884 | ENST00000429815 | NBEAL1 | chr2 | 203975005 | + | CYP20A1 | chr2 | 204131237 | + |
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FusionProtFeatures for NBEAL1_CYP20A1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
NBEAL1 | CYP20A1 |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >NBEAL1 | chr2:203975005 | chr2:204131237 | ENST00000449802 | + | 14 | 55 | 1883_1980 | 665 | 2695 | Domain | BEACH-type PH |
Hgene | >NBEAL1 | chr2:203975005 | chr2:204131237 | ENST00000449802 | + | 14 | 55 | 1992_2284 | 665 | 2695 | Domain | BEACH |
Hgene | >NBEAL1 | chr2:203975005 | chr2:204131237 | ENST00000449802 | + | 14 | 55 | 2439_2478 | 665 | 2695 | Repeat | Note=WD 1 |
Hgene | >NBEAL1 | chr2:203975005 | chr2:204131237 | ENST00000449802 | + | 14 | 55 | 2490_2531 | 665 | 2695 | Repeat | Note=WD 2 |
Tgene | CYP20A1 | chr2:203975005 | chr2:204131237 | ENST00000356079 | + | 3 | 13 | 4_24 | 144 | 463 | Transmembrane | Helical |
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FusionGeneSequence for NBEAL1_CYP20A1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NBEAL1 | HIF1A, HNRNPA1, HNRNPU, AP1S2, KIF1C, RGMA, CNTROB, CHMP4B, SDC2 | CYP20A1 | APP, TP53, PIEZO1, VSIG1, BTNL3 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NBEAL1_CYP20A1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NBEAL1_CYP20A1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |