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Fusion gene ID: 502 |
FusionGeneSummary for ACSS3_CYP39A1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ACSS3_CYP39A1 | Fusion gene ID: 502 | Hgene | Tgene | Gene symbol | ACSS3 | CYP39A1 | Gene ID | 79611 | 51302 |
Gene name | acyl-CoA synthetase short chain family member 3 | cytochrome P450 family 39 subfamily A member 1 | |
Synonyms | - | - | |
Cytomap | 12q21.31 | 6p12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | acyl-CoA synthetase short-chain family member 3, mitochondrialAMP-binding enzyme, 33217 | 24-hydroxycholesterol 7-alpha-hydroxylasecytochrome P450, family 39, subfamily A, polypeptide 1cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9H6R3 | Q9NYL5 | |
Ensembl transtripts involved in fusion gene | ENST00000548058, ENST00000261206, ENST00000548324, | ENST00000275016, ENST00000489657, | |
Fusion gene scores | * DoF score | 5 X 4 X 1=20 | 2 X 3 X 2=12 |
# samples | 3 | 2 | |
** MAII score | log2(3/20*10)=0.584962500721156 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ACSS3 [Title/Abstract] AND CYP39A1 [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 |
Tgene | CYP39A1 | GO:0006699 | bile acid biosynthetic process | 10748047 |
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 | RV | SARC | TCGA-DX-A7EI-01A | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
* 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 | ENST00000548058 | ENST00000275016 | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
5CDS-intron | ENST00000548058 | ENST00000489657 | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
In-frame | ENST00000261206 | ENST00000275016 | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
5CDS-intron | ENST00000261206 | ENST00000489657 | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
intron-3CDS | ENST00000548324 | ENST00000275016 | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
intron-intron | ENST00000548324 | ENST00000489657 | ACSS3 | chr12 | 81472210 | + | CYP39A1 | chr6 | 46518174 | - |
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FusionProtFeatures for ACSS3_CYP39A1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ACSS3 | CYP39A1 |
Activates acetate so that it can be used for lipidsynthesis or for energy generation. {ECO:0000250}. | Involved in the bile acid metabolism. Has a preferencefor 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product. {ECO:0000269|PubMed:10748047}. |
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 | >ACSS3 | chr12:81472210 | chr6:46518174 | ENST00000548058 | + | 1 | 16 | 425_427 | 103 | 687 | Nucleotide binding | ATP |
Hgene | >ACSS3 | chr12:81472210 | chr6:46518174 | ENST00000548058 | + | 1 | 16 | 446_451 | 103 | 687 | Nucleotide binding | ATP |
Hgene | >ACSS3 | chr12:81472210 | chr6:46518174 | ENST00000548324 | + | 1 | 11 | 425_427 | -76 | 369 | Nucleotide binding | ATP |
Hgene | >ACSS3 | chr12:81472210 | chr6:46518174 | ENST00000548324 | + | 1 | 11 | 446_451 | -76 | 369 | Nucleotide binding | ATP |
Hgene | >ACSS3 | chr12:81472210 | chr6:46518174 | ENST00000548058 | + | 1 | 16 | 227_230 | 103 | 687 | Region | Coenzyme A binding |
Hgene | >ACSS3 | chr12:81472210 | chr6:46518174 | ENST00000548324 | + | 1 | 11 | 227_230 | -76 | 369 | Region | Coenzyme A binding |
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FusionGeneSequence for ACSS3_CYP39A1 |
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_ACSS3_ENST00000548058_chr12_81472210_+_CYP39A1_ENST00000275016_chr6_46518174_-_127aa MKPSWLQCRKVTSAGGLGGPLPGSSPARGAGAALRALVVPGPRGGLGGRGCRALSSGSGSEYKTHFAASVTDPERFWGKAAEQISWYKPW >In-frame_ACSS3_ENST00000261206_chr12_81472210_+_CYP39A1_ENST00000275016_chr6_46518174_-_126aa MKPSWLQCRKVTSAGGLGGPLPGSSPARGAGAALRALVVPGPRGGLGGRGCRALSSGSGSEYKTHFAASVTDPERFWGKAAEQISWYKPW |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ACSS3_ENST00000548058_chr12_81472210_+_CYP39A1_ENST00000275016_chr6_46518174_-_383nt ATGAAACCGTCTTGGCTGCAGTGTCGTAAAGTCACCAGCGCCGGGGGGCTCGGAGGGCCCTTGCCTGGGTCCTCTCCGGCCCGGGGAGCC GGTGCGGCCCTCAGGGCTTTAGTGGTCCCGGGCCCGCGGGGCGGTCTCGGGGGCCGGGGATGCAGGGCACTGTCCTCCGGCAGTGGCAGC GAGTACAAGACCCACTTCGCAGCCTCGGTGACCGACCCCGAGAGGTTCTGGGGCAAAGCTGCCGAGCAGATCAGCTGGTACAAGCCCTGG ACCAAAACGCTGGAGAACAAACACTCGCCCTCTACCAGGTGAGTTATCTCCATTTGGTGGGTGTCCCCCAGCCGGAAGGGCAATGCCGAA >In-frame_ACSS3_ENST00000261206_chr12_81472210_+_CYP39A1_ENST00000275016_chr6_46518174_-_380nt ATGAAACCGTCTTGGCTGCAGTGTCGTAAAGTCACCAGCGCCGGGGGGCTCGGAGGGCCCTTGCCTGGGTCCTCTCCGGCCCGGGGAGCC GGTGCGGCCCTCAGGGCTTTAGTGGTCCCGGGCCCGCGGGGCGGTCTCGGGGGCCGGGGATGCAGGGCACTGTCCTCCGGCAGTGGCAGC GAGTACAAGACCCACTTCGCAGCCTCGGTGACCGACCCCGAGAGGTTCTGGGGCAAAGCTGCCGAGCAGATCAGCTGGTACAAGCCCTGG ACCAAAACGCTGGAGAACAAACACTCGCCCTCTACCAGAGTTATCTCCATTTGGTGGGTGTCCCCCAGCCGGAAGGGCAATGCCGAATTG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ACSS3_ENST00000548058_chr12_81472210_+_CYP39A1_ENST00000275016_chr6_46518174_-_1855nt CTTTCTTTTTACATTTTCCCAGTTTCCTCTTTTGATTCATCTTTACTTACTTCCTATTTTTGTTTTTTGTTTATTTGTTTGTTTTGTTTT CTCATTAGAAAAGCCACAGAAACTCCAAGCAGGCAAATTAGAAGGGAGGCAATGCAACAAGTCCTATCTGTTCTCTGTCTAGATCACATG CGGAGTCTGGTCAGCAGGTGAATCCGCATCCCAGTGGGGTCACCTTCCCTGTGACCTGTCAATCACCCCAAGAAGCACTTCCCAATTTGT CTGGCACAACCTCCTTCCACTCCTCCTACCCTCTCAGTGGTCAGGAAATCCCGGAGCAGTCCTTGCCCTGGAGCTGCTTGTGTTTTTAGT AACCAGGGACTGAGCTGATTTTGAAAAATCAATCAATCAATAAATAACAATCAAAGAGCCTTGCCTCAACGCACCGAGTTGCTGGTTTCC TGCAGGTCAGAGGCGATGCCACCTCCACCAACGACCTTCCAAAGATTAAACCAGCCGTGTACAAACTGCTGGATTGAAAATTGAGAGATG GGCCGTTGGCCTCCTCCTAGGAGTACTTGTGTGTTGAAATCGGAAGGACGTTCTGGAGTTTGAGCGCGATTTTTCCCGGAAGGCTGCGGG GTTGGAAGTGCATGTTGGGGTTTGGATCTCGTGCAGCAGCGCAACTAACCTGCTGCAACGGCGCTGTGACACCCCTGTCCCGGGGCCCCC ACTTTAGCCTGTTGCTTCTCTGGTCGCTCCAGGTCGGTTTTTCCCGGCGACTCTAGTGTGGCTTCCAAACTTCTGGGCTCTGGGCTCACT TCGGAATTTGCCCCCGCCCCCTACTCCCTTCCCTCAGGCCCCAGGAAGTTGCAAGAGTACCATTTGTCGCACACTCGGGGACCGCGGGTG GCCGGAGGAGATGAAACCGTCTTGGCTGCAGTGTCGTAAAGTCACCAGCGCCGGGGGGCTCGGAGGGCCCTTGCCTGGGTCCTCTCCGGC CCGGGGAGCCGGTGCGGCCCTCAGGGCTTTAGTGGTCCCGGGCCCGCGGGGCGGTCTCGGGGGCCGGGGATGCAGGGCACTGTCCTCCGG CAGTGGCAGCGAGTACAAGACCCACTTCGCAGCCTCGGTGACCGACCCCGAGAGGTTCTGGGGCAAAGCTGCCGAGCAGATCAGCTGGTA CAAGCCCTGGACCAAAACGCTGGAGAACAAACACTCGCCCTCTACCAGGTGAGTTATCTCCATTTGGTGGGTGTCCCCCAGCCGGAAGGG CAATGCCGAATTGAATATAAACAAAGAATATGACATCTGTTGGGCCTCACAAGGACCAGGGCCTTCTGGAGGAGTGGCACTACCCCACCT GGCAGCACCTAGACCTGAGCTCTACAAAAACACACTGCTTCACTTTGTTTTAGGACTTAGTTCAAGAACACATTCAAATGGTGCATGTGT TTGGTATCTTCAACAGTAGACCAAGAATCTAACATCACTCTCAGTAATATAGAGACCGGAATACATGGTTTATAGGAAATGATCAAATGA TCCAAAAAAACTCCACATTTTTTAAGAAGTTGGAATTTGATTTCATGCATAACTGTATTAAAACATTAAATAGAAATAATGTCATTTGAA TGAAAATCTTATCACATTAAATTCACTGTGAAGGCAGCATACTTAAATTTTTATTTTGAAAAGTCTAAAAGGCTTAGATTTTTAAAATTT AATAATTATTTCTACAAATTTTCTATTTTTCTTGAGGTGATTCTCAACTAGCAATTGGAACTCCTAGGCTCTATTAACATAATTCTTTAT >In-frame_ACSS3_ENST00000261206_chr12_81472210_+_CYP39A1_ENST00000275016_chr6_46518174_-_1006nt GGCCCCAGGAAGTTGCAAGAGTACCATTTGTCGCACACTCGGGGACCGCGGGTGGCCGGAGGAGATGAAACCGTCTTGGCTGCAGTGTCG TAAAGTCACCAGCGCCGGGGGGCTCGGAGGGCCCTTGCCTGGGTCCTCTCCGGCCCGGGGAGCCGGTGCGGCCCTCAGGGCTTTAGTGGT CCCGGGCCCGCGGGGCGGTCTCGGGGGCCGGGGATGCAGGGCACTGTCCTCCGGCAGTGGCAGCGAGTACAAGACCCACTTCGCAGCCTC GGTGACCGACCCCGAGAGGTTCTGGGGCAAAGCTGCCGAGCAGATCAGCTGGTACAAGCCCTGGACCAAAACGCTGGAGAACAAACACTC GCCCTCTACCAGAGTTATCTCCATTTGGTGGGTGTCCCCCAGCCGGAAGGGCAATGCCGAATTGAATATAAACAAAGAATATGACATCTG TTGGGCCTCACAAGGACCAGGGCCTTCTGGAGGAGTGGCACTACCCCACCTGGCAGCACCTAGACCTGAGCTCTACAAAAACACACTGCT TCACTTTGTTTTAGGACTTAGTTCAAGAACACATTCAAATGGTGCATGTGTTTGGTATCTTCAACAGTAGACCAAGAATCTAACATCACT CTCAGTAATATAGAGACCGGAATACATGGTTTATAGGAAATGATCAAATGATCCAAAAAAACTCCACATTTTTTAAGAAGTTGGAATTTG ATTTCATGCATAACTGTATTAAAACATTAAATAGAAATAATGTCATTTGAATGAAAATCTTATCACATTAAATTCACTGTGAAGGCAGCA TACTTAAATTTTTATTTTGAAAAGTCTAAAAGGCTTAGATTTTTAAAATTTAATAATTATTTCTACAAATTTTCTATTTTTCTTGAGGTG ATTCTCAACTAGCAATTGGAACTCCTAGGCTCTATTAACATAATTCTTTATTGTAAACGTATCTAATGCTAAAAGTAATAAAATGGTAGT |
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FusionGenePPI for ACSS3_CYP39A1 |
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 |
ACSS3 | LEFTY2 | CYP39A1 | SERINC1, ORM2, GLUL, SMYD3, HERC3 |
- 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 ACSS3_CYP39A1 |
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 ACSS3_CYP39A1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |