FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ASMTL-UGT1A6 (FusionGDB2 ID:7181)

Fusion Gene Summary for ASMTL-UGT1A6

check button Fusion gene summary
Fusion gene informationFusion gene name: ASMTL-UGT1A6
Fusion gene ID: 7181
HgeneTgene
Gene symbol

ASMTL

UGT1A6

Gene ID

8623

54578

Gene nameacetylserotonin O-methyltransferase likeUDP glucuronosyltransferase family 1 member A6
SynonymsASMTLX|ASMTLY|ASTMLGNT1|HLUGP|HLUGP1|UDPGT|UDPGT 1-6|UGT-1A|UGT-1C|UGT-1E|UGT1|UGT1-01|UGT1-03|UGT1-05|UGT1.1|UGT1.3|UGT1.5|UGT1A|UGT1A1|UGT1A3|UGT1A5|UGT1A6S|UGT1C|UGT1E|UGT1F|hUG-BR1
Cytomap

Xp22.33 and Yp11.2

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionprobable bifunctional dTTP/UTP pyrophosphatase/methyltransferase proteinN-acetylserotonin O-methyltransferase-like proteinacetylserotonin N-methyltransferase-likeUDP-glucuronosyltransferase 1-6Bilirubin-specific UDPGT isozyme 1UDP glucuronosyltransferase 1 family, polypeptide A6UDP glycosyltransferase 1 family, polypeptide A6UDP-glucuronosyltransferase 1 family polypeptide A6sUDP-glucuronosyltransferase 1-1U
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000381317, ENST00000381333, 
ENST00000416733, ENST00000463763, 
ENST00000534940, 		ENST00000305139, 
ENST00000406651, ENST00000480628, 
ENST00000373424, 
Fusion gene scores* DoF score15 X 11 X 4=6607 X 4 X 8=224
# samples 108
** MAII scorelog2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASMTL [Title/Abstract] AND UGT1A6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASMTL(1521641)-UGT1A6(234675680), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneUGT1A6

GO:0006805

xenobiotic metabolic process

3141926

TgeneUGT1A6

GO:0052695

cellular glucuronidation

22579593


check buttonFusion gene breakpoints across ASMTL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across UGT1A6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-EW-A1PB-01AASMTLchrX

1571641

-UGT1A6chr2

234675680

+
ChimerDB4BRCATCGA-EW-A1PB-01AASMTLchrY

1521641

-UGT1A6chr2

234675680

+


Top

Fusion Gene ORF analysis for ASMTL-UGT1A6

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
5CDS-intronENST00000381317ENST00000305139ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5CDS-intronENST00000381317ENST00000406651ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5CDS-intronENST00000381317ENST00000480628ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5CDS-intronENST00000381333ENST00000305139ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5CDS-intronENST00000381333ENST00000406651ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5CDS-intronENST00000381333ENST00000480628ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5UTR-3CDSENST00000416733ENST00000373424ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5UTR-intronENST00000416733ENST00000305139ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5UTR-intronENST00000416733ENST00000406651ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
5UTR-intronENST00000416733ENST00000480628ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
In-frameENST00000381317ENST00000373424ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
In-frameENST00000381333ENST00000373424ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000381317ENST00000373424ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000381333ENST00000373424ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000416733ENST00000373424ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000463763ENST00000373424ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000463763ENST00000373424ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000534940ENST00000373424ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-3CDSENST00000534940ENST00000373424ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-intronENST00000381317ENST00000305139ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000381317ENST00000406651ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000381317ENST00000480628ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000381333ENST00000305139ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000381333ENST00000406651ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000381333ENST00000480628ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000416733ENST00000305139ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000416733ENST00000406651ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000416733ENST00000480628ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000463763ENST00000305139ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000463763ENST00000305139ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-intronENST00000463763ENST00000406651ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000463763ENST00000406651ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-intronENST00000463763ENST00000480628ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000463763ENST00000480628ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-intronENST00000534940ENST00000305139ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000534940ENST00000305139ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-intronENST00000534940ENST00000406651ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000534940ENST00000406651ASMTLchrY

1521641

-UGT1A6chr2

234675680

+
intron-intronENST00000534940ENST00000480628ASMTLchrX

1571641

-UGT1A6chr2

234675680

+
intron-intronENST00000534940ENST00000480628ASMTLchrY

1521641

-UGT1A6chr2

234675680

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000381317ASMTLchrY1521641-ENST00000373424UGT1A6chr2234675680+97312633863276
ENST00000381333ASMTLchrY1521641-ENST00000373424UGT1A6chr2234675680+10291828919303

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000381317ENST00000373424ASMTLchrY1521641-UGT1A6chr2234675680+0.0009428810.9990571
ENST00000381333ENST00000373424ASMTLchrY1521641-UGT1A6chr2234675680+0.0010858190.99891424

Top

Fusion Genomic Features for ASMTL-UGT1A6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ASMTLchrY1521640-UGT1A6chr2234675679+3.44E-060.99999654
ASMTLchrX1571640-UGT1A6chr2234675679+3.44E-060.99999654
ASMTLchrY1521640-UGT1A6chr2234675679+3.44E-060.99999654
ASMTLchrX1571640-UGT1A6chr2234675679+3.44E-060.99999654

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for ASMTL-UGT1A6


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrY:1521641/chr2:234675680)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneUGT1A6chrY:1521641chr2:234675680ENST0000030513905490_506287533.0TransmembraneHelical
TgeneUGT1A6chrY:1521641chr2:234675680ENST0000037342416490_50620266.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASMTLchrY:1521641chr2:234675680ENST00000381317-11311_22331622.0RegionNote=MAF-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381317-113277_62131622.0RegionNote=ASMT-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381317-113508_51031622.0RegionS-adenosyl-L-methionine binding
HgeneASMTLchrY:1521641chr2:234675680ENST00000381333-11211_22331606.0RegionNote=MAF-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381333-112277_62131606.0RegionNote=ASMT-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381333-112508_51031606.0RegionS-adenosyl-L-methionine binding
HgeneASMTLchrY:1521641chr2:234675680ENST00000534940-11311_2230564.0RegionNote=MAF-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000534940-113277_6210564.0RegionNote=ASMT-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000534940-113508_5100564.0RegionS-adenosyl-L-methionine binding


Top

Fusion Gene Sequence for ASMTL-UGT1A6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>7181_7181_1_ASMTL-UGT1A6_ASMTL_chrY_1521641_ENST00000381317_UGT1A6_chr2_234675680_ENST00000373424_length(transcript)=973nt_BP=126nt
AAGTGCGGACGCCCGGCTCCCGGCGTGGACGCCATGGTGCTGTGCCCGGTGATTGGGAAGCTGCTGCACAAGCGCGTGGTGCTGGCCAGC
GCCTCCCCACGCCGTCAGGAGATCCTCAGCAACGCGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCT
TTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGG
TACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
CGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGAT
CAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCT
CTAAAAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGAC
CTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTAC
CATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
TGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTTGAACCAT

>7181_7181_1_ASMTL-UGT1A6_ASMTL_chrY_1521641_ENST00000381317_UGT1A6_chr2_234675680_ENST00000373424_length(amino acids)=276AA_BP=31
MVLCPVIGKLLHKRVVLASASPRRQEILSNAEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLAN
NTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYK
ENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKA

--------------------------------------------------------------
>7181_7181_2_ASMTL-UGT1A6_ASMTL_chrY_1521641_ENST00000381333_UGT1A6_chr2_234675680_ENST00000373424_length(transcript)=1029nt_BP=182nt
CTGGCCGCCTGTTTTTTTTGCAGCCGCGCTGCGCGCACCGCGGGCTCCGGGCTCAGAAGTGCGGACGCCCGGCTCCCGGCGTGGACGCCA
TGGTGCTGTGCCCGGTGATTGGGAAGCTGCTGCACAAGCGCGTGGTGCTGGCCAGCGCCTCCCCACGCCGTCAGGAGATCCTCAGCAACG
CGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGA
AAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACA
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTG
TTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGG
GAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTACAAGG
AGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGC
ACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCG
TCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCC
ACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCA

>7181_7181_2_ASMTL-UGT1A6_ASMTL_chrY_1521641_ENST00000381333_UGT1A6_chr2_234675680_ENST00000373424_length(amino acids)=303AA_BP=58
MFFLQPRCAHRGLRAQKCGRPAPGVDAMVLCPVIGKLLHKRVVLASASPRRQEILSNAEFEAYINASGEHGIVVFSLGSMVSEIPEKKAM
AIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAG
VTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVL

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for ASMTL-UGT1A6


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


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


Top

Related Drugs for ASMTL-UGT1A6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ASMTL-UGT1A6


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