Fusion Gene Studies
in Kim Lab

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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ALAS1-HHEX (FusionGDB2 ID:HG211TG3087)

Fusion Gene Summary for ALAS1-HHEX

check button Fusion gene summary
Fusion gene informationFusion gene name: ALAS1-HHEX
Fusion gene ID: hg211tg3087
HgeneTgene
Gene symbol

ALAS1

HHEX

Gene ID

211

3087

Gene name5'-aminolevulinate synthase 1hematopoietically expressed homeobox
SynonymsALAS|ALAS-H|ALAS3|ALASH|MIG4HEX|HMPH|HOX11L-PEN|PRH|PRHX
Cytomap('ALAS1')('HHEX')

3p21.2

10q23.33

Type of geneprotein-codingprotein-coding
Description5-aminolevulinate synthase, nonspecific, mitochondrial5-aminolevulinic acid synthase 1aminolevulinate, delta-, synthase 1delta-ALA synthase 1delta-aminolevulinate synthase 1migration-inducing protein 4hematopoietically-expressed homeobox protein HHEXhomeobox protein HEXhomeobox protein PRHhomeobox, hematopoietically expressedproline-rich homeodomain-containing transcription factor
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000310271, ENST00000394965, 
ENST00000469224, ENST00000484952, 
Fusion gene scores* DoF score6 X 6 X 5=1802 X 2 X 2=8
# samples 62
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: ALAS1 [Title/Abstract] AND HHEX [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALAS1(52242227)-HHEX(94449946), # samples:2
Anticipated loss of major functional domain due to fusion event.ALAS1-HHEX seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ALAS1-HHEX seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneHHEX

GO:0000122

negative regulation of transcription by RNA polymerase II

10871399|15016828

TgeneHHEX

GO:0006406

mRNA export from nucleus

12554669

TgeneHHEX

GO:0034504

protein localization to nucleus

18713067

TgeneHHEX

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

12554669

TgeneHHEX

GO:0045892

negative regulation of transcription, DNA-templated

10871399|15016828

TgeneHHEX

GO:0045944

positive regulation of transcription by RNA polymerase II

12655000

TgeneHHEX

GO:0070663

regulation of leukocyte proliferation

12554669

TgeneHHEX

GO:0071103

DNA conformation change

18755198


check buttonFusion gene breakpoints across ALAS1 (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 HHEX (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
* 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-AN-A0XT-01AALAS1chr3

52242227

+HHEXchr10

94449946

+


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Fusion Gene ORF analysis for ALAS1-HHEX

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-intronENST00000310271ENST00000472590ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000310271ENST00000492654ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000394965ENST00000472590ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000394965ENST00000492654ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000469224ENST00000472590ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000469224ENST00000492654ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000484952ENST00000472590ALAS1chr3

52242227

+HHEXchr10

94449946

+
5CDS-intronENST00000484952ENST00000492654ALAS1chr3

52242227

+HHEXchr10

94449946

+
In-frameENST00000310271ENST00000282728ALAS1chr3

52242227

+HHEXchr10

94449946

+
In-frameENST00000394965ENST00000282728ALAS1chr3

52242227

+HHEXchr10

94449946

+
In-frameENST00000469224ENST00000282728ALAS1chr3

52242227

+HHEXchr10

94449946

+
In-frameENST00000484952ENST00000282728ALAS1chr3

52242227

+HHEXchr10

94449946

+

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)
ENST00000469224ALAS1chr352242227+ENST00000282728HHEXchr1094449946+289114031961521441
ENST00000394965ALAS1chr352242227+ENST00000282728HHEXchr1094449946+30491561631679538
ENST00000310271ALAS1chr352242227+ENST00000282728HHEXchr1094449946+28341346251464479
ENST00000484952ALAS1chr352242227+ENST00000282728HHEXchr1094449946+301015223151640441

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
ENST00000469224ENST00000282728ALAS1chr352242227+HHEXchr1094449946+0.0027007410.99729925
ENST00000394965ENST00000282728ALAS1chr352242227+HHEXchr1094449946+0.0020195020.99798054
ENST00000310271ENST00000282728ALAS1chr352242227+HHEXchr1094449946+0.0024602480.99753976
ENST00000484952ENST00000282728ALAS1chr352242227+HHEXchr1094449946+0.0024059190.99759406

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Fusion Genomic Features for ALAS1-HHEX


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)

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

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Fusion Protein Features for ALAS1-HHEX


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/chr3:52242227/chr10:94449946)
- 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
TgeneHHEXchr3:52242227chr10:94449946ENST00000282728041_1330271.0Compositional biasNote=Pro-rich
TgeneHHEXchr3:52242227chr10:94449946ENST0000028272804137_1960271.0DNA bindingHomeobox
TgeneHHEXchr3:52242227chr10:94449946ENST0000028272804137_2700271.0RegionRequired for WNT signaling induction

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ALAS1-HHEX


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.
>3718_3718_1_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000310271_HHEX_chr10_94449946_ENST00000282728_length(transcript)=2834nt_BP=1346nt
ATATTAAGGCGCCGGCGATCGCGGCCTGAGGCTGCTCCCGGACAAGGGCAACGAGCGTTTCGTTTGGACTTCTCGACTTGAGTGCCCGCC
TCCTTCGCCGCCGCCTCTGCAGTCCTCAGCGCAGGAGCCAGCATACTTCCTGAACATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATC
CCGAGTCCCCCAGGCCTTTCTGCAGAAAGCAGGCAAATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGGAAGTTGGGGCCAA
GCCAGCCCCTCGGGCATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAAACCCCTCCGGCCAGTGAGAAAGACAAAACTGCTAA
GGCCAAGGTCCAACAGACTCCTGATGGATCCCAGCAGAGTCCAGATGGCACACAGCTTCCGTCTGGACACCCCTTGCCTGCCACAAGCCA
GGGCACTGCAAGCAAATGCCCTTTCCTGGCAGCACAGATGAATCAGAGAGGCAGCAGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGA
GGATGTGCAGGAAATGAATGCCGTGAGGAAAGAGGTTGCTGAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGA
TCCCAGTGGACTGCTGAAGAACTTCCAGGACATCATGCAAAAGCAAAGACCAGAAAGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAA
ATCTGTTTCCACTTTTCAGTATGATCGTTTCTTTGAGAAAAAAATTGATGAGAAAAAGAATGACCACACCTATCGAGTTTTTAAAACTGT
GAACCGGCGAGCACACATCTTCCCCATGGCAGATGACTATTCAGACTCCCTCATCACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGA
CTACCTAGGAATGAGTCGCCACCCACGGGTGTGTGGGGCAGTTATGGACACTTTGAAACAACATGGTGCTGGGGCAGGTGGTACTAGAAA
TATTTCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTCCATGGGAAAGATGCCGCACTCTTGTTTTCCTCGTG
CTTTGTGGCCAATGACTCAACCCTCTTCACCCTGGCTAAGATGATGCCAGGCTGTGAGATTTACTCTGATTCTGGGAACCATGCCTCCAT
GATCCAAGGGATTCGAAACAGCCGAGTGCCAAAGTACATCTTCCGCCACAATGATGTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGA
CCCCTCAGTCCCCAAGATTGTGGCATTTGAAACTGTCCATTCAATGGATGTCATGCCAAAAATGGACATCATTTCTGGAACACTTGGGTG
TACGAGCCCACGCCGATCCATCCAGCCTTCTCGCACCACTCCGCCGCCGCGCTGGCCGCTGCCTACGGACCCGGCGGCTTCGGGGGCCCT
CTGTACCCCTTCCCGCGGACGGTGAACGACTACACGCACGCCCTGCTCCGCCACGACCCCCTGGGCAAACCTCTACTCTGGAGCCCCTTC
TTGCAGAGGCCTCTGCATAAAAGGAAAGGCGGCCAGGTGAGATTCTCCAACGACCAGACCATCGAGCTGGAGAAGAAATTCGAGACGCAG
AAATATCTCTCTCCGCCCGAGAGGAAGCGTCTGGCCAAGATGCTGCAGCTCAGCGAGAGACAGGTCAAAACCTGGTTTCAGAATCGACGC
GCTAAATGGAGGAGACTAAAACAGGAGAACCCTCAAAGCAATAAAAAAGAAGAACTGGAAAGTTTGGACAGTTCCTGTGATCAGAGGCAA
GATTTGCCCAGTGAACAGAATAAAGGTGCTTCTTTGGATAGCTCTCAATGTTCGCCCTCCCCTGCCTCCCAGGAAGACCTTGAATCAGAG
ATTTCAGAGGATTCTGATCAGGAAGTGGACATTGAGGGCGATAAAAGCTATTTTAATGCTGGATGATGACCACTGGCATTGGCATGTTCA
GAAAACTGGATTTAGGAATAATGTTTTGCTACAGAAAATCTTCATAGAAGAACTGGAAGGCTATATAAGAAAGGGAATCAATTCTCTGGT
ATTCTGGAAACCTAAAAATATTTGGTGCACTGCTCAATTAACAAACCTACATGGAGACCTTAATTTTGACTTAACAAATAGTTTATGTAC
TGCTCTTAGGTTGTTTTGATAAAGTGACATTATAGTGATTAAATTCTTCCCCCTTTAAAAAAACAGTTAGTGGTTTTCACTATTTATAAA
AAATTAATTTTGAACTTTTTGTTAAATTTTTAAGTTATAGCTTTAAAGGTTTTAATAGGACCTTCTTGAACGACTTTTCTGTAATCTGTT
TATCTCCCACTTAATGGAAAGGCAAAGGGGTACCCCAAATCCAGAGGTGCCTACATTTCAGGCAGCCTTGGAGTATTTTAAAAGGAAAAC
ATTCTTTACTTTTATATGACATTCTTATACTGCTGTCTCAAATCCAAAAACATTTCAGAGCTCTTGTCTCAGAGATGTGTGTTCTTTTTG
TCAGAGATATGGTTGATGAGAATCTTAAATGCTTGTTTTGCACTATCACTTAGTACCTGTTTGACCAAGGTGTTAAGGGGATAGTACCTC
CCAATTCAAGCAGAGAAACTGACCTGACTAAAGTTAATCGCAGATGAACTAGAAGTCACAGGTTAATTAAATGTAAGTAGATTGTAGATA
CTGTTTTATATCAAACAATGTTTATAATGTGTATATAGAATTGTTCACTGTAAAAAAAATGGCCAAAATGTGTTTTTTTTTTAATAAGTA

>3718_3718_1_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000310271_HHEX_chr10_94449946_ENST00000282728_length(amino acids)=479AA_BP=441
MRLLPDKGNERFVWTSRLECPPPSPPPLQSSAQEPAYFLNMESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALST
AAVHYQQIKETPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAV
RKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFP
MADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTL
FTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHNDVSHLRELLQRSDPSVPKIVAFETVHSMDVMPKMDIISGTLGCTSPRRSIQ

--------------------------------------------------------------
>3718_3718_2_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000394965_HHEX_chr10_94449946_ENST00000282728_length(transcript)=3049nt_BP=1561nt
AGCGCCCAAGGCGCATGCGCAGCGGTCACTCCCGCTGTATATTAAGGCGCCGGCGATCGCGGCCTGAGGCTGCTCCCGGACAAGGGCAAC
GAGCGTTTCGTTTGGACTTCTCGACTTGAGTGCCCGCCTCCTTCGCCGCCGCCTCTGCAGTCCTCAGCGCAGTTATGCCCAGTTCTTCCC
GCTGTGGGGACACGACCACGGAGGAATCCTTGCTTCAGGGACTCGGGACCCTGCTGGACCCCTTCCTCGGGTTTAGGGGATGTGGGGACC
AGGAGAAAGTCAGGATCCCTAAGAGTCTTCCCTGCCTGGATGGATGAGTGGCTTCTTCTCCACCTAGATGAGCCAGCATACTTCCTGAAC
ATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATCCCGAGTCCCCCAGGCCTTTCTGCAGAAAGCAGGCAAATCTCTGTTGTTCTATGCC
CAAAACTGCCCCAAGATGATGGAAGTTGGGGCCAAGCCAGCCCCTCGGGCATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAA
ACCCCTCCGGCCAGTGAGAAAGACAAAACTGCTAAGGCCAAGGTCCAACAGACTCCTGATGGATCCCAGCAGAGTCCAGATGGCACACAG
CTTCCGTCTGGACACCCCTTGCCTGCCACAAGCCAGGGCACTGCAAGCAAATGCCCTTTCCTGGCAGCACAGATGAATCAGAGAGGCAGC
AGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGATGTGCAGGAAATGAATGCCGTGAGGAAAGAGGTTGCTGAAACCTCAGCAGGC
CCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGATCCCAGTGGACTGCTGAAGAACTTCCAGGACATCATGCAAAAGCAAAGACCAGAA
AGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAAATCTGTTTCCACTTTTCAGTATGATCGTTTCTTTGAGAAAAAAATTGATGAGAAA
AAGAATGACCACACCTATCGAGTTTTTAAAACTGTGAACCGGCGAGCACACATCTTCCCCATGGCAGATGACTATTCAGACTCCCTCATC
ACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGACTACCTAGGAATGAGTCGCCACCCACGGGTGTGTGGGGCAGTTATGGACACTTTG
AAACAACATGGTGCTGGGGCAGGTGGTACTAGAAATATTTCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTC
CATGGGAAAGATGCCGCACTCTTGTTTTCCTCGTGCTTTGTGGCCAATGACTCAACCCTCTTCACCCTGGCTAAGATGATGCCAGGCTGT
GAGATTTACTCTGATTCTGGGAACCATGCCTCCATGATCCAAGGGATTCGAAACAGCCGAGTGCCAAAGTACATCTTCCGCCACAATGAT
GTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGACCCCTCAGTCCCCAAGATTGTGGCATTTGAAACTGTCCATTCAATGGATGTCATG
CCAAAAATGGACATCATTTCTGGAACACTTGGGTGTACGAGCCCACGCCGATCCATCCAGCCTTCTCGCACCACTCCGCCGCCGCGCTGG
CCGCTGCCTACGGACCCGGCGGCTTCGGGGGCCCTCTGTACCCCTTCCCGCGGACGGTGAACGACTACACGCACGCCCTGCTCCGCCACG
ACCCCCTGGGCAAACCTCTACTCTGGAGCCCCTTCTTGCAGAGGCCTCTGCATAAAAGGAAAGGCGGCCAGGTGAGATTCTCCAACGACC
AGACCATCGAGCTGGAGAAGAAATTCGAGACGCAGAAATATCTCTCTCCGCCCGAGAGGAAGCGTCTGGCCAAGATGCTGCAGCTCAGCG
AGAGACAGGTCAAAACCTGGTTTCAGAATCGACGCGCTAAATGGAGGAGACTAAAACAGGAGAACCCTCAAAGCAATAAAAAAGAAGAAC
TGGAAAGTTTGGACAGTTCCTGTGATCAGAGGCAAGATTTGCCCAGTGAACAGAATAAAGGTGCTTCTTTGGATAGCTCTCAATGTTCGC
CCTCCCCTGCCTCCCAGGAAGACCTTGAATCAGAGATTTCAGAGGATTCTGATCAGGAAGTGGACATTGAGGGCGATAAAAGCTATTTTA
ATGCTGGATGATGACCACTGGCATTGGCATGTTCAGAAAACTGGATTTAGGAATAATGTTTTGCTACAGAAAATCTTCATAGAAGAACTG
GAAGGCTATATAAGAAAGGGAATCAATTCTCTGGTATTCTGGAAACCTAAAAATATTTGGTGCACTGCTCAATTAACAAACCTACATGGA
GACCTTAATTTTGACTTAACAAATAGTTTATGTACTGCTCTTAGGTTGTTTTGATAAAGTGACATTATAGTGATTAAATTCTTCCCCCTT
TAAAAAAACAGTTAGTGGTTTTCACTATTTATAAAAAATTAATTTTGAACTTTTTGTTAAATTTTTAAGTTATAGCTTTAAAGGTTTTAA
TAGGACCTTCTTGAACGACTTTTCTGTAATCTGTTTATCTCCCACTTAATGGAAAGGCAAAGGGGTACCCCAAATCCAGAGGTGCCTACA
TTTCAGGCAGCCTTGGAGTATTTTAAAAGGAAAACATTCTTTACTTTTATATGACATTCTTATACTGCTGTCTCAAATCCAAAAACATTT
CAGAGCTCTTGTCTCAGAGATGTGTGTTCTTTTTGTCAGAGATATGGTTGATGAGAATCTTAAATGCTTGTTTTGCACTATCACTTAGTA
CCTGTTTGACCAAGGTGTTAAGGGGATAGTACCTCCCAATTCAAGCAGAGAAACTGACCTGACTAAAGTTAATCGCAGATGAACTAGAAG
TCACAGGTTAATTAAATGTAAGTAGATTGTAGATACTGTTTTATATCAAACAATGTTTATAATGTGTATATAGAATTGTTCACTGTAAAA

>3718_3718_2_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000394965_HHEX_chr10_94449946_ENST00000282728_length(amino acids)=538AA_BP=500
MRLLPDKGNERFVWTSRLECPPPSPPPLQSSAQLCPVLPAVGTRPRRNPCFRDSGPCWTPSSGLGDVGTRRKSGSLRVFPAWMDEWLLLH
LDEPAYFLNMESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKTAKAKVQQTPDG
SQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQ
DIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPR
VCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRV

--------------------------------------------------------------
>3718_3718_3_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000469224_HHEX_chr10_94449946_ENST00000282728_length(transcript)=2891nt_BP=1403nt
AAGAAGGCAGCGCCCAAGGCGCATGCGCAGCGGTCACTCCCGCTGTATATTAAGGCGCCGGCGATCGCGGCCTGAGGCTGCTCCCGGACA
AGGGCAACGAGCGTTTCGTTTGGACTTCTCGACTTGAGTGCCCGCCTCCTTCGCCGCCGCCTCTGCAGTCCTCAGCGCAGTCTTTCCACA
GGAGCCAGCATACTTCCTGAACATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATCCCGAGTCCCCCAGGCCTTTCTGCAGAAAGCAGG
CAAATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGGAAGTTGGGGCCAAGCCAGCCCCTCGGGCATTGTCCACTGCAGCAGT
ACACTACCAACAGATCAAAGAAACCCCTCCGGCCAGTGAGAAAGACAAAACTGCTAAGGCCAAGGTCCAACAGACTCCTGATGGATCCCA
GCAGAGTCCAGATGGCACACAGCTTCCGTCTGGACACCCCTTGCCTGCCACAAGCCAGGGCACTGCAAGCAAATGCCCTTTCCTGGCAGC
ACAGATGAATCAGAGAGGCAGCAGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGATGTGCAGGAAATGAATGCCGTGAGGAAAGA
GGTTGCTGAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGATCCCAGTGGACTGCTGAAGAACTTCCAGGACAT
CATGCAAAAGCAAAGACCAGAAAGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAAATCTGTTTCCACTTTTCAGTATGATCGTTTCTT
TGAGAAAAAAATTGATGAGAAAAAGAATGACCACACCTATCGAGTTTTTAAAACTGTGAACCGGCGAGCACACATCTTCCCCATGGCAGA
TGACTATTCAGACTCCCTCATCACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGACTACCTAGGAATGAGTCGCCACCCACGGGTGTG
TGGGGCAGTTATGGACACTTTGAAACAACATGGTGCTGGGGCAGGTGGTACTAGAAATATTTCTGGAACTAGTAAATTCCATGTGGACTT
AGAGCGGGAGCTGGCAGACCTCCATGGGAAAGATGCCGCACTCTTGTTTTCCTCGTGCTTTGTGGCCAATGACTCAACCCTCTTCACCCT
GGCTAAGATGATGCCAGGCTGTGAGATTTACTCTGATTCTGGGAACCATGCCTCCATGATCCAAGGGATTCGAAACAGCCGAGTGCCAAA
GTACATCTTCCGCCACAATGATGTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGACCCCTCAGTCCCCAAGATTGTGGCATTTGAAAC
TGTCCATTCAATGGATGTCATGCCAAAAATGGACATCATTTCTGGAACACTTGGGTGTACGAGCCCACGCCGATCCATCCAGCCTTCTCG
CACCACTCCGCCGCCGCGCTGGCCGCTGCCTACGGACCCGGCGGCTTCGGGGGCCCTCTGTACCCCTTCCCGCGGACGGTGAACGACTAC
ACGCACGCCCTGCTCCGCCACGACCCCCTGGGCAAACCTCTACTCTGGAGCCCCTTCTTGCAGAGGCCTCTGCATAAAAGGAAAGGCGGC
CAGGTGAGATTCTCCAACGACCAGACCATCGAGCTGGAGAAGAAATTCGAGACGCAGAAATATCTCTCTCCGCCCGAGAGGAAGCGTCTG
GCCAAGATGCTGCAGCTCAGCGAGAGACAGGTCAAAACCTGGTTTCAGAATCGACGCGCTAAATGGAGGAGACTAAAACAGGAGAACCCT
CAAAGCAATAAAAAAGAAGAACTGGAAAGTTTGGACAGTTCCTGTGATCAGAGGCAAGATTTGCCCAGTGAACAGAATAAAGGTGCTTCT
TTGGATAGCTCTCAATGTTCGCCCTCCCCTGCCTCCCAGGAAGACCTTGAATCAGAGATTTCAGAGGATTCTGATCAGGAAGTGGACATT
GAGGGCGATAAAAGCTATTTTAATGCTGGATGATGACCACTGGCATTGGCATGTTCAGAAAACTGGATTTAGGAATAATGTTTTGCTACA
GAAAATCTTCATAGAAGAACTGGAAGGCTATATAAGAAAGGGAATCAATTCTCTGGTATTCTGGAAACCTAAAAATATTTGGTGCACTGC
TCAATTAACAAACCTACATGGAGACCTTAATTTTGACTTAACAAATAGTTTATGTACTGCTCTTAGGTTGTTTTGATAAAGTGACATTAT
AGTGATTAAATTCTTCCCCCTTTAAAAAAACAGTTAGTGGTTTTCACTATTTATAAAAAATTAATTTTGAACTTTTTGTTAAATTTTTAA
GTTATAGCTTTAAAGGTTTTAATAGGACCTTCTTGAACGACTTTTCTGTAATCTGTTTATCTCCCACTTAATGGAAAGGCAAAGGGGTAC
CCCAAATCCAGAGGTGCCTACATTTCAGGCAGCCTTGGAGTATTTTAAAAGGAAAACATTCTTTACTTTTATATGACATTCTTATACTGC
TGTCTCAAATCCAAAAACATTTCAGAGCTCTTGTCTCAGAGATGTGTGTTCTTTTTGTCAGAGATATGGTTGATGAGAATCTTAAATGCT
TGTTTTGCACTATCACTTAGTACCTGTTTGACCAAGGTGTTAAGGGGATAGTACCTCCCAATTCAAGCAGAGAAACTGACCTGACTAAAG
TTAATCGCAGATGAACTAGAAGTCACAGGTTAATTAAATGTAAGTAGATTGTAGATACTGTTTTATATCAAACAATGTTTATAATGTGTA
TATAGAATTGTTCACTGTAAAAAAAATGGCCAAAATGTGTTTTTTTTTTAATAAGTAACTTGACTATAAAATAAAGCCGTCCGTGGGACG

>3718_3718_3_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000469224_HHEX_chr10_94449946_ENST00000282728_length(amino acids)=441AA_BP=403
MNMESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKTAKAKVQQTPDGSQQSPDG
TQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQR
PERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMD
TLKQHGAGAGGTRNISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRH

--------------------------------------------------------------
>3718_3718_4_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000484952_HHEX_chr10_94449946_ENST00000282728_length(transcript)=3010nt_BP=1522nt
CGGCGATCGCGGCCTGAGGCTGCTCCCGGACAAGGGCAACGAGCGTTTCGTTTGGACTTCTCGACTTGAGTGCCCGCCTCCTTCGCCGCC
GCCTCTGCAGTCCTCAGCGCAGTTATGCCCAGTTCTTCCCGCTGTGGGGACACGACCACGGAGGAATCCTTGCTTCAGGGACTCGGGACC
CTGCTGGACCCCTTCCTCGGGTTTAGGGGATGTGGGGACCAGGAGAAAGTCAGGATCCCTAAGAGTCTTCCCTGCCTGGATGGATGAGTG
GCTTCTTCTCCACCTAGATTCTTTCCACAGGAGCCAGCATACTTCCTGAACATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATCCCGA
GTCCCCCAGGCCTTTCTGCAGAAAGCAGGCAAATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGGAAGTTGGGGCCAAGCCA
GCCCCTCGGGCATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAAACCCCTCCGGCCAGTGAGAAAGACAAAACTGCTAAGGCC
AAGGTCCAACAGACTCCTGATGGATCCCAGCAGAGTCCAGATGGCACACAGCTTCCGTCTGGACACCCCTTGCCTGCCACAAGCCAGGGC
ACTGCAAGCAAATGCCCTTTCCTGGCAGCACAGATGAATCAGAGAGGCAGCAGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGAT
GTGCAGGAAATGAATGCCGTGAGGAAAGAGGTTGCTGAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGATCCC
AGTGGACTGCTGAAGAACTTCCAGGACATCATGCAAAAGCAAAGACCAGAAAGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAAATCT
GTTTCCACTTTTCAGTATGATCGTTTCTTTGAGAAAAAAATTGATGAGAAAAAGAATGACCACACCTATCGAGTTTTTAAAACTGTGAAC
CGGCGAGCACACATCTTCCCCATGGCAGATGACTATTCAGACTCCCTCATCACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGACTAC
CTAGGAATGAGTCGCCACCCACGGGTGTGTGGGGCAGTTATGGACACTTTGAAACAACATGGTGCTGGGGCAGGTGGTACTAGAAATATT
TCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTCCATGGGAAAGATGCCGCACTCTTGTTTTCCTCGTGCTTT
GTGGCCAATGACTCAACCCTCTTCACCCTGGCTAAGATGATGCCAGGCTGTGAGATTTACTCTGATTCTGGGAACCATGCCTCCATGATC
CAAGGGATTCGAAACAGCCGAGTGCCAAAGTACATCTTCCGCCACAATGATGTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGACCCC
TCAGTCCCCAAGATTGTGGCATTTGAAACTGTCCATTCAATGGATGTCATGCCAAAAATGGACATCATTTCTGGAACACTTGGGTGTACG
AGCCCACGCCGATCCATCCAGCCTTCTCGCACCACTCCGCCGCCGCGCTGGCCGCTGCCTACGGACCCGGCGGCTTCGGGGGCCCTCTGT
ACCCCTTCCCGCGGACGGTGAACGACTACACGCACGCCCTGCTCCGCCACGACCCCCTGGGCAAACCTCTACTCTGGAGCCCCTTCTTGC
AGAGGCCTCTGCATAAAAGGAAAGGCGGCCAGGTGAGATTCTCCAACGACCAGACCATCGAGCTGGAGAAGAAATTCGAGACGCAGAAAT
ATCTCTCTCCGCCCGAGAGGAAGCGTCTGGCCAAGATGCTGCAGCTCAGCGAGAGACAGGTCAAAACCTGGTTTCAGAATCGACGCGCTA
AATGGAGGAGACTAAAACAGGAGAACCCTCAAAGCAATAAAAAAGAAGAACTGGAAAGTTTGGACAGTTCCTGTGATCAGAGGCAAGATT
TGCCCAGTGAACAGAATAAAGGTGCTTCTTTGGATAGCTCTCAATGTTCGCCCTCCCCTGCCTCCCAGGAAGACCTTGAATCAGAGATTT
CAGAGGATTCTGATCAGGAAGTGGACATTGAGGGCGATAAAAGCTATTTTAATGCTGGATGATGACCACTGGCATTGGCATGTTCAGAAA
ACTGGATTTAGGAATAATGTTTTGCTACAGAAAATCTTCATAGAAGAACTGGAAGGCTATATAAGAAAGGGAATCAATTCTCTGGTATTC
TGGAAACCTAAAAATATTTGGTGCACTGCTCAATTAACAAACCTACATGGAGACCTTAATTTTGACTTAACAAATAGTTTATGTACTGCT
CTTAGGTTGTTTTGATAAAGTGACATTATAGTGATTAAATTCTTCCCCCTTTAAAAAAACAGTTAGTGGTTTTCACTATTTATAAAAAAT
TAATTTTGAACTTTTTGTTAAATTTTTAAGTTATAGCTTTAAAGGTTTTAATAGGACCTTCTTGAACGACTTTTCTGTAATCTGTTTATC
TCCCACTTAATGGAAAGGCAAAGGGGTACCCCAAATCCAGAGGTGCCTACATTTCAGGCAGCCTTGGAGTATTTTAAAAGGAAAACATTC
TTTACTTTTATATGACATTCTTATACTGCTGTCTCAAATCCAAAAACATTTCAGAGCTCTTGTCTCAGAGATGTGTGTTCTTTTTGTCAG
AGATATGGTTGATGAGAATCTTAAATGCTTGTTTTGCACTATCACTTAGTACCTGTTTGACCAAGGTGTTAAGGGGATAGTACCTCCCAA
TTCAAGCAGAGAAACTGACCTGACTAAAGTTAATCGCAGATGAACTAGAAGTCACAGGTTAATTAAATGTAAGTAGATTGTAGATACTGT
TTTATATCAAACAATGTTTATAATGTGTATATAGAATTGTTCACTGTAAAAAAAATGGCCAAAATGTGTTTTTTTTTTAATAAGTAACTT

>3718_3718_4_ALAS1-HHEX_ALAS1_chr3_52242227_ENST00000484952_HHEX_chr10_94449946_ENST00000282728_length(amino acids)=441AA_BP=403
MNMESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKTAKAKVQQTPDGSQQSPDG
TQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQR
PERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMD
TLKQHGAGAGGTRNISGTSKFHVDLERELADLHGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRH

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

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Fusion Gene PPI Analysis for ALAS1-HHEX


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
TgeneHHEXchr3:52242227chr10:94449946ENST00000282728041_1370271.0SOX13


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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Related Drugs for ALAS1-HHEX


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

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Related Diseases for ALAS1-HHEX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALAS1C0032708Disorders of Porphyrin Metabolism1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human