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Fusion gene ID: 25163 |
FusionGeneSummary for NUMBL_CYP2F1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NUMBL_CYP2F1 | Fusion gene ID: 25163 | Hgene | Tgene | Gene symbol | NUMBL | CYP2F1 | Gene ID | 9253 | 1572 |
| Gene name | NUMB like, endocytic adaptor protein | cytochrome P450 family 2 subfamily F member 1 | |
| Synonyms | CAG3A|CTG3a|NBL|NUMB-R|NUMBLIKE|NUMBR|TNRC23 | C2F1|CYP2F|CYPIIF1 | |
| Cytomap | 19q13.2 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | numb-like proteinnumb homolog-likenumb-related protein | cytochrome P450 2F1cytochrome P450, family 2, subfamily F, polypeptide 1cytochrome P450, subfamily IIF, polypeptide 1flavoprotein-linked monooxygenasemicrosomal monooxygenasexenobiotic monooxygenase | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9Y6R0 | P24903 | |
| Ensembl transtripts involved in fusion gene | ENST00000252891, ENST00000598779, ENST00000540131, ENST00000599594, | ENST00000331105, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/8*10)=1.90689059560852 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: NUMBL [Title/Abstract] AND CYP2F1 [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 |
| Hgene | NUMBL | GO:0019221 | cytokine-mediated signaling pathway | 18299187 |
| Hgene | NUMBL | GO:0019538 | protein metabolic process | 20079715 |
| Tgene | CYP2F1 | GO:0018931 | naphthalene metabolic process | 10383923 |
| 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 | LGG | TCGA-E1-A7Z2-01A | NUMBL | chr19 | 41192816 | - | CYP2F1 | chr19 | 41626308 | + |
| * 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 | ENST00000252891 | ENST00000331105 | NUMBL | chr19 | 41192816 | - | CYP2F1 | chr19 | 41626308 | + |
| intron-3CDS | ENST00000598779 | ENST00000331105 | NUMBL | chr19 | 41192816 | - | CYP2F1 | chr19 | 41626308 | + |
| intron-3CDS | ENST00000540131 | ENST00000331105 | NUMBL | chr19 | 41192816 | - | CYP2F1 | chr19 | 41626308 | + |
| 5UTR-3CDS | ENST00000599594 | ENST00000331105 | NUMBL | chr19 | 41192816 | - | CYP2F1 | chr19 | 41626308 | + |
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FusionProtFeatures for NUMBL_CYP2F1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NUMBL | CYP2F1 |
| Plays a role in the process of neurogenesis. Requiredthroughout embryonic neurogenesis to maintain neural progenitorcells, also called radial glial cells (RGCs), by allowing theirdaughter cells to choose progenitor over neuronal cell fate. Notrequired for the proliferation of neural progenitor cells beforethe onset of embryonic neurogenesis. Also required postnatally inthe subventricular zone (SVZ) neurogenesis by regulating SVZneuroblasts survival and ependymal wall integrity. Negativeregulator of NF-kappa-B signaling pathway. The inhibition of NF-kappa-B activation is mediated at least in part, by preventingMAP3K7IP2 to interact with polyubiquitin chains of TRAF6 and RIPK1and by stimulating the 'Lys-48'-linked polyubiquitination anddegradation of TRAF6 in cortical neurons.{ECO:0000269|PubMed:18299187, ECO:0000269|PubMed:20079715}. | May be involved in the metabolism of variouspneumotoxicants including naphthalene. Is able to dealkylateethoxycoumarin, propoxycoumarin, and pentoxyresorufin butpossesses no activity toward ethoxyresorufin and only tracedearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile3-methylene-indolenine. {ECO:0000269|PubMed:1974816}. |
| 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 | >NUMBL | chr19:41192816 | chr19:41626308 | ENST00000252891 | - | 2 | 10 | 427_446 | 36 | 610 | Compositional bias | Note=Poly-Gln |
| Hgene | >NUMBL | chr19:41192816 | chr19:41626308 | ENST00000540131 | - | 1 | 9 | 427_446 | -33 | 569 | Compositional bias | Note=Poly-Gln |
| Hgene | >NUMBL | chr19:41192816 | chr19:41626308 | ENST00000598779 | - | 1 | 9 | 427_446 | -36 | 569 | Compositional bias | Note=Poly-Gln |
| Hgene | >NUMBL | chr19:41192816 | chr19:41626308 | ENST00000252891 | - | 2 | 10 | 74_223 | 36 | 610 | Domain | PID |
| Hgene | >NUMBL | chr19:41192816 | chr19:41626308 | ENST00000540131 | - | 1 | 9 | 74_223 | -33 | 569 | Domain | PID |
| Hgene | >NUMBL | chr19:41192816 | chr19:41626308 | ENST00000598779 | - | 1 | 9 | 74_223 | -36 | 569 | Domain | PID |
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FusionGeneSequence for NUMBL_CYP2F1 |
| 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_NUMBL_ENST00000252891_chr19_41192816_-_CYP2F1_ENST00000331105_chr19_41626308_+_417aa MSRSAAASGGPRRPERHLPPAPCGAPGPPETCRTEPGIAFSSGDRWKVLRQFSIQILRNFGMGKRSIEERILEEGSFLLAELRKTEGEPF DPTFVLSRSVSNIICSVLFGSRFDYDDERLLTIIRLINDNFQIMSSPWGELYDIFPSLLDWVPGPHQRIFQNFKCLRDLIAHSVHDHQAS LDPRSPRDFIQCFLTKMAEEKEDPLSHFHMDTLLMTTHNLLFGGTKTVSTTLHHAFLALMKYPKVQARVQEEIDLVVGRARLPALKDRAA MPYTDAVIHEVQRFADIIPMNLPHRVTRDTAFRGFLIPKGTDVITLLNTVHYDPSQFLTPQEFNPEHFLDANQSFKKSPAFMPFSAGRRL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_NUMBL_ENST00000252891_chr19_41192816_-_CYP2F1_ENST00000331105_chr19_41626308_+_1251nt ATGTCCCGCAGCGCGGCGGCCAGCGGCGGACCCCGGAGGCCTGAGCGGCACCTGCCCCCAGCCCCCTGTGGGGCCCCGGGGCCCCCAGAA ACCTGCAGGACGGAGCCAGGCATCGCCTTCTCCAGTGGGGATCGATGGAAGGTCCTGAGACAGTTCTCTATCCAGATTCTACGGAATTTC GGGATGGGGAAGAGAAGCATTGAGGAGCGAATCCTAGAGGAGGGCAGCTTCCTGCTGGCGGAGCTGCGGAAAACTGAAGGCGAGCCCTTT GACCCCACGTTTGTGCTGAGTCGCTCAGTGTCCAACATTATCTGTTCCGTGCTCTTCGGCAGCCGCTTCGACTATGATGATGAGCGTCTG CTCACCATTATCCGCCTTATCAATGACAACTTCCAAATCATGAGCAGCCCCTGGGGCGAGTTGTACGACATCTTCCCGAGCCTCCTGGAC TGGGTGCCTGGGCCGCACCAACGCATCTTCCAGAACTTCAAGTGCCTGAGAGACCTCATCGCCCACAGCGTCCACGACCACCAGGCCTCG CTAGACCCCAGATCTCCCCGGGACTTCATCCAGTGCTTCCTCACCAAGATGGCAGAGGAGAAGGAGGACCCACTGAGCCACTTCCACATG GATACCCTGCTGATGACCACACATAACCTGCTCTTTGGCGGCACCAAGACGGTGAGCACCACGCTGCACCACGCCTTCCTGGCACTCATG AAGTACCCAAAAGTTCAAGCCCGCGTGCAGGAGGAGATCGACCTCGTGGTGGGACGCGCGCGGCTGCCGGCGCTGAAGGACCGCGCGGCC ATGCCTTACACAGACGCGGTGATCCACGAGGTGCAGCGCTTTGCAGACATCATCCCCATGAACTTGCCGCACCGCGTCACTAGGGACACG GCCTTTCGCGGCTTCCTGATACCCAAGGGCACCGATGTCATCACCCTCCTTAACACCGTCCACTACGACCCCAGCCAGTTCCTGACGCCC CAGGAGTTCAACCCCGAGCATTTTTTGGATGCCAATCAGTCCTTCAAGAAGAGTCCAGCCTTCATGCCCTTCTCAGCTGGGCGCCGTCTG TGCCTGGGAGAGTCGCTGGCGCGCATGGAGCTCTTTCTGTACCTCACCGCCATCCTGCAGAGCTTTTCGCTGCAGCCGCTGGGTGCGCCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_NUMBL_ENST00000252891_chr19_41192816_-_CYP2F1_ENST00000331105_chr19_41626308_+_1534nt AATCCTCCCGGGAGCCGAGGAGGCTCGCGCGCGTGCATCCCGCACCATCCCCCGGCCCCGGGCCCTGGCCGGCGTCAGACCGAGCTGCCG CCGCCACCACCGCAGCAGCAGCAGTCGGGGAGCCAGGCCCAGCCAGGGCCGCGGGAGGCGGGGGCGCCCGGGCCCTGGATGTCCCGCAGC GCGGCGGCCAGCGGCGGACCCCGGAGGCCTGAGCGGCACCTGCCCCCAGCCCCCTGTGGGGCCCCGGGGCCCCCAGAAACCTGCAGGACG GAGCCAGTTCTACGGAATTTCGGGATGGGGAAGAGAAGCATTGAGGAGCGAATCCTAGAGGAGGGCAGCTTCCTGCTGGCGGAGCTGCGG AAAACTGAAGGCGAGCCCTTTGACCCCACGTTTGTGCTGAGTCGCTCAGTGTCCAACATTATCTGTTCCGTGCTCTTCGGCAGCCGCTTC GACTATGATGATGAGCGTCTGCTCACCATTATCCGCCTTATCAATGACAACTTCCAAATCATGAGCAGCCCCTGGGGCGAGTTGTACGAC ATCTTCCCGAGCCTCCTGGACTGGGTGCCTGGGCCGCACCAACGCATCTTCCAGAACTTCAAGTGCCTGAGAGACCTCATCGCCCACAGC GTCCACGACCACCAGGCCTCGCTAGACCCCAGATCTCCCCGGGACTTCATCCAGTGCTTCCTCACCAAGATGGCAGAGGAGAAGGAGGAC CCACTGAGCCACTTCCACATGGATACCCTGCTGATGACCACACATAACCTGCTCTTTGGCGGCACCAAGACGGTGAGCACCACGCTGCAC CACGCCTTCCTGGCACTCATGAAGTACCCAAAAGTTCAAGCCCGCGTGCAGGAGGAGATCGACCTCGTGGTGGGACGCGCGCGGCTGCCG GCGCTGAAGGACCGCGCGGCCATGCCTTACACAGACGCGGTGATCCACGAGGTGCAGCGCTTTGCAGACATCATCCCCATGAACTTGCCG CACCGCGTCACTAGGGACACGGCCTTTCGCGGCTTCCTGATACCCAAGGGCACCGATGTCATCACCCTCCTTAACACCGTCCACTACGAC CCCAGCCAGTTCCTGACGCCCCAGGAGTTCAACCCCGAGCATTTTTTGGATGCCAATCAGTCCTTCAAGAAGAGTCCAGCCTTCATGCCC TTCTCAGCTGGGCGCCGTCTGTGCCTGGGAGAGTCGCTGGCGCGCATGGAGCTCTTTCTGTACCTCACCGCCATCCTGCAGAGCTTTTCG CTGCAGCCGCTGGGTGCGCCCGAGGACATCGACCTGACCCCACTCAGCTCAGGTCTTGGCAATTTGCCGCGGCCTTTCCAGCTGTGCCTG CGCCCGCGCTAACGCCCCGGCCCTTCCAGATTCGCCTGTGAGCGATGAGGCCCGCCCATGCGGGTTGCTACGTCCCCTTCTTGGTCCACA GTCTGCCCTCATCCCTCTGGCAGTCACGCTGTCTTCCCTGCATGCTGTGCCTGCCGCGTGCCCTTCCCCCATCCCTCCAATCTGTGCCCC |
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FusionGenePPI for NUMBL_CYP2F1 |
| 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 |
| NUMBL | GRIP1, TAB2, TRAF6, RBFOX1, ATXN1, TRAF5, EGFR, MAGED1, ESRP2, TMC5, ACTN1, GAA, PSMA3, SIAH1, THPO, BHLHE40, RIPK1, GPATCH8, SPSB3, XPO1, KIAA1107, LIMA1, GTSE1, CDH1, CTDSPL, SLC1A1, KBTBD7, UNC5CL, CBY1, RAB3IP | CYP2F1 |
| - 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 NUMBL_CYP2F1 |
| 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 NUMBL_CYP2F1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NUMBL | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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