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Fusion gene ID: 19155 |
FusionGeneSummary for KNOP1_CYP24A1 |
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Fusion gene information | Fusion gene name: KNOP1_CYP24A1 | Fusion gene ID: 19155 | Hgene | Tgene | Gene symbol | KNOP1 | CYP24A1 | Gene ID | 400506 | 1591 |
Gene name | lysine rich nucleolar protein 1 | cytochrome P450 family 24 subfamily A member 1 | |
Synonyms | 101F10.1|C16orf88|FAM191A|TSG118 | CP24|CYP24|HCAI|HCINF1|P450-CC24 | |
Cytomap | 16p12.3 | 20q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | lysine-rich nucleolar protein 1family with sequence similarity 191, member Aprotein C16orf88testis-specific gene 118 protein | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial1,25-@dihydroxyvitamin D3 24-hydroxylase24-OHasecytochrome P450 24A1cytochrome P450, family 24, subfamily A, polypeptide 1cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)cytochrome P4 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q1ED39 | Q07973 | |
Ensembl transtripts involved in fusion gene | ENST00000219837, ENST00000568230, | ENST00000216862, ENST00000395955, ENST00000460643, ENST00000395954, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
# samples | 6 | 2 | |
** MAII score | log2(6/4*10)=3.90689059560852 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: KNOP1 [Title/Abstract] AND CYP24A1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CYP24A1 | GO:0033280 | response to vitamin D | 16720713 |
Tgene | CYP24A1 | GO:0055114 | oxidation-reduction process | 8506296 |
![]() (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 |
ChiTaRS3.1 | AL711186 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000219837 | ENST00000216862 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000219837 | ENST00000395955 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000219837 | ENST00000460643 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000219837 | ENST00000395954 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000568230 | ENST00000216862 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000568230 | ENST00000395955 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000568230 | ENST00000460643 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
intron-intron | ENST00000568230 | ENST00000395954 | KNOP1 | chr16 | 19729035 | - | CYP24A1 | chr20 | 52772031 | - |
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FusionProtFeatures for KNOP1_CYP24A1 |
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Hgene | Tgene |
KNOP1 | CYP24A1 |
Has a role in maintaining calcium homeostasis. Catalyzesthe adrenodoxin-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitaminD(3)). The enzyme can perform up to 6 rounds of hydroxylation ofcalcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitaminD(3)-26,23-lactone as end product. {ECO:0000269|PubMed:15574355}. |
![]() * 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 |
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FusionGeneSequence for KNOP1_CYP24A1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for KNOP1_CYP24A1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KNOP1_CYP24A1 |
![]() (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 KNOP1_CYP24A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CYP24A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | CYP24A1 | C0020437 | Hypercalcemia | 1 | CTD_human |
Tgene | CYP24A1 | C0020438 | Hypercalciuria | 1 | CTD_human;HPO |
Tgene | CYP24A1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | CYP24A1 | C0029456 | Osteoporosis | 1 | CTD_human |
Tgene | CYP24A1 | C0392525 | Nephrolithiasis | 1 | CTD_human |
Tgene | CYP24A1 | C0475732 | Hypercalcemia, Infantile | 1 | HPO;ORPHANET;UNIPROT |
Tgene | CYP24A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | CYP24A1 | C1565489 | Renal Insufficiency | 1 | CTD_human |