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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: 502

FusionGeneSummary for ACSS3_CYP39A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACSS3_CYP39A1
Fusion gene ID: 502
HgeneTgene
Gene symbol

ACSS3

CYP39A1

Gene ID

79611

51302

Gene nameacyl-CoA synthetase short chain family member 3cytochrome P450 family 39 subfamily A member 1
Synonyms--
Cytomap

12q21.31

6p12.3

Type of geneprotein-codingprotein-coding
Descriptionacyl-CoA synthetase short-chain family member 3, mitochondrialAMP-binding enzyme, 3321724-hydroxycholesterol 7-alpha-hydroxylasecytochrome P450, family 39, subfamily A, polypeptide 1cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1
Modification date2018051920180523
UniProtAcc

Q9H6R3

Q9NYL5

Ensembl transtripts involved in fusion geneENST00000548058, ENST00000261206, 
ENST00000548324, 
ENST00000275016, 
ENST00000489657, 
Fusion gene scores* DoF score5 X 4 X 1=202 X 3 X 2=12
# samples 32
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCYP39A1

GO:0006699

bile acid biosynthetic process

10748047


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
TCGARVSARCTCGA-DX-A7EI-01AACSS3chr12

81472210

+CYP39A1chr6

46518174

-
* 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-frameENST00000548058ENST00000275016ACSS3chr12

81472210

+CYP39A1chr6

46518174

-
5CDS-intronENST00000548058ENST00000489657ACSS3chr12

81472210

+CYP39A1chr6

46518174

-
In-frameENST00000261206ENST00000275016ACSS3chr12

81472210

+CYP39A1chr6

46518174

-
5CDS-intronENST00000261206ENST00000489657ACSS3chr12

81472210

+CYP39A1chr6

46518174

-
intron-3CDSENST00000548324ENST00000275016ACSS3chr12

81472210

+CYP39A1chr6

46518174

-
intron-intronENST00000548324ENST00000489657ACSS3chr12

81472210

+CYP39A1chr6

46518174

-

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FusionProtFeatures for ACSS3_CYP39A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACSS3

Q9H6R3

CYP39A1

Q9NYL5

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}.

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
HgeneACSS3chr12:81472210chr6:46518174ENST00000548058+116425_427103687Nucleotide bindingATP
HgeneACSS3chr12:81472210chr6:46518174ENST00000548058+116446_451103687Nucleotide bindingATP
HgeneACSS3chr12:81472210chr6:46518174ENST00000548324+111425_427-76369Nucleotide bindingATP
HgeneACSS3chr12:81472210chr6:46518174ENST00000548324+111446_451-76369Nucleotide bindingATP
HgeneACSS3chr12:81472210chr6:46518174ENST00000548058+116227_230103687RegionCoenzyme A binding
HgeneACSS3chr12:81472210chr6:46518174ENST00000548324+111227_230-76369RegionCoenzyme A binding


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FusionGeneSequence for ACSS3_CYP39A1


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_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


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
ACSS3LEFTY2CYP39A1SERINC1, ORM2, GLUL, SMYD3, HERC3


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 ACSS3_CYP39A1


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 ACSS3_CYP39A1


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