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in Kim Lab

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Center for Computational Systems Medicine
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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:SEL1L3-BHLHE41 (FusionGDB2 ID:HG23231TG79365)

Fusion Gene Summary for SEL1L3-BHLHE41

check button Fusion gene summary
Fusion gene informationFusion gene name: SEL1L3-BHLHE41
Fusion gene ID: hg23231tg79365
HgeneTgene
Gene symbol

SEL1L3

BHLHE41

Gene ID

23231

79365

Gene nameSEL1L family member 3basic helix-loop-helix family member e41
SynonymsSel-1L3BHLHB3|DEC2|FNSS1|SHARP1|hDEC2
Cytomap('SEL1L3')('BHLHE41')

4p15.2

12p12.1

Type of geneprotein-codingprotein-coding
Descriptionprotein sel-1 homolog 3sel-1 suppressor of lin-12-like 3suppressor of lin-12-like protein 3class E basic helix-loop-helix protein 41basic helix-loop-helix domain containing, class B, 3differentially expressed in chondrocytes protein 2enhancer-of-split and hairy-related protein 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000513364, ENST00000502949, 
ENST00000264868, ENST00000399878, 
Fusion gene scores* DoF score11 X 12 X 7=9245 X 2 X 4=40
# samples 125
** MAII scorelog2(12/924*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SEL1L3 [Title/Abstract] AND BHLHE41 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEL1L3(25836818)-BHLHE41(26277515), # samples:1
Anticipated loss of major functional domain due to fusion event.SEL1L3-BHLHE41 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.
SEL1L3-BHLHE41 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.
SEL1L3-BHLHE41 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
SEL1L3-BHLHE41 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted 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
TgeneBHLHE41

GO:0000122

negative regulation of transcription by RNA polymerase II

14672706|15193144


check buttonFusion gene breakpoints across SEL1L3 (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 BHLHE41 (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
ChimerDB4OVTCGA-25-2042SEL1L3chr4

25836818

-BHLHE41chr12

26277515

-


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Fusion Gene ORF analysis for SEL1L3-BHLHE41

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
5UTR-3CDSENST00000513364ENST00000242728SEL1L3chr4

25836818

-BHLHE41chr12

26277515

-
Frame-shiftENST00000502949ENST00000242728SEL1L3chr4

25836818

-BHLHE41chr12

26277515

-
In-frameENST00000264868ENST00000242728SEL1L3chr4

25836818

-BHLHE41chr12

26277515

-
In-frameENST00000399878ENST00000242728SEL1L3chr4

25836818

-BHLHE41chr12

26277515

-

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)
ENST00000399878SEL1L3chr425836818-ENST00000242728BHLHE41chr1226277515-4410983782369763
ENST00000264868SEL1L3chr425836818-ENST00000242728BHLHE41chr1226277515-4265838202224734

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
ENST00000399878ENST00000242728SEL1L3chr425836818-BHLHE41chr1226277515-0.0011625060.99883753
ENST00000264868ENST00000242728SEL1L3chr425836818-BHLHE41chr1226277515-0.0005948490.99940515

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Fusion Genomic Features for SEL1L3-BHLHE41


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 SEL1L3-BHLHE41


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/chr4:25836818/chr12:26277515)
- 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
TgeneBHLHE41chr4:25836818chr12:26277515ENST0000024272805297_43120483.0Compositional biasNote=Ala/Gly-rich
TgeneBHLHE41chr4:25836818chr12:26277515ENST0000024272805131_16620483.0DomainOrange
TgeneBHLHE41chr4:25836818chr12:26277515ENST000002427280544_9920483.0DomainbHLH

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324575_6092511098.0RepeatNote=Sel1-like 1
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324611_6472511098.0RepeatNote=Sel1-like 2
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324694_7302511098.0RepeatNote=Sel1-like 3
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324732_7672511098.0RepeatNote=Sel1-like 4
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324768_8002511098.0RepeatNote=Sel1-like 5
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324801_8392511098.0RepeatNote=Sel1-like 6
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324840_8772511098.0RepeatNote=Sel1-like 7
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-324952_9882511098.0RepeatNote=Sel1-like 8
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324575_6092861133.0RepeatNote=Sel1-like 1
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324611_6472861133.0RepeatNote=Sel1-like 2
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324694_7302861133.0RepeatNote=Sel1-like 3
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324732_7672861133.0RepeatNote=Sel1-like 4
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324768_8002861133.0RepeatNote=Sel1-like 5
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324801_8392861133.0RepeatNote=Sel1-like 6
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324840_8772861133.0RepeatNote=Sel1-like 7
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-324952_9882861133.0RepeatNote=Sel1-like 8
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324575_609133980.0RepeatNote=Sel1-like 1
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324611_647133980.0RepeatNote=Sel1-like 2
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324694_730133980.0RepeatNote=Sel1-like 3
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324732_767133980.0RepeatNote=Sel1-like 4
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324768_800133980.0RepeatNote=Sel1-like 5
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324801_839133980.0RepeatNote=Sel1-like 6
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324840_877133980.0RepeatNote=Sel1-like 7
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-324952_988133980.0RepeatNote=Sel1-like 8
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000264868-3241057_10772511098.0TransmembraneHelical
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000399878-3241057_10772861133.0TransmembraneHelical
HgeneSEL1L3chr4:25836818chr12:26277515ENST00000502949-3241057_1077133980.0TransmembraneHelical


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Fusion Gene Sequence for SEL1L3-BHLHE41


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.
>80202_80202_1_SEL1L3-BHLHE41_SEL1L3_chr4_25836818_ENST00000264868_BHLHE41_chr12_26277515_ENST00000242728_length(transcript)=4265nt_BP=838nt
TCAAAATCCATCCTGAAGGCCTGGGAGCCGGGCAGCTGCGCGGCACAACTCCAGGGGGCACACTCGCCCTGCGCCCTGCGGGAATGGCGC
CCCGGCCAAAAAAGCAACCAGACAAAAACCCATTGCACGGGCGGGAACTGAATGTTGTACCATCTTTGGGTAGGCAGACTTCCCTGACGA
CATCAGTGATACCCAAAGCTGAGCAGAGCGTGGCTTACAAAGACTTTATTTATTTTACTGTCTTTGAAGGAAACGTTCGCAACGTTTCTG
AAGTCTCGGTTGAGTATTTATGCTCTCAGCCTTGTGTTGTCAATTTGGAAGCAGTTGTTTCATCTGAGTTCAGAAGTAGCATTCCCGTGT
ACAAAAAAAGGTGGAAGAATGAGAAACATCTTCACACCAGCAGGACACAAATAGTACATGTGAAATTTCCAAGCATTATGGTTTACAGAG
ATGATTATTTCATCAGACATTCCATCTCTGTATCTGCAGTGATAGTACGCGCCTGGATTACTCACAAATACAGTGGCAGAGACTGGAATG
TTAAATGGGAGGAAAACTTGCTCCATGCTGTAGCAAAGAATTATACCCTCCTGCAGACCATCCCGCCTTTTGAACGCCCTTTCAAAGATC
ATCAAGTGTGCCTTGAGTGGAACATGGGTTATATTTGGAACCTTCGGGCAAACAGGATTCCACAGTGTCCTCTGGAAAATGATGTGGTTG
CCCTGCTTGGCTTTCCTTATGCCTCCAGTGGAGAAAACACAGGCATTGTCAAGAAGTTCCCGAGGTTTCGGAACCGAGAGCTGGAGGCCA
CTCGACGCCAGAGGATGGATTACCCAGTACTGGACTATTCCTCTTTGTATATGTGTAAACCCAAAAGGAGCATGAAACGAGACGACACCA
AGGATACCTACAAATTACCGCACAGATTAATAGAAAAGAAAAGAAGAGACCGAATTAATGAATGCATTGCTCAGCTGAAAGATTTACTGC
CTGAACATCTGAAATTGACAACTCTGGGACATCTGGAGAAAGCTGTAGTCTTGGAATTAACTTTGAAACACTTAAAAGCTTTAACCGCCT
TAACCGAGCAACAGCATCAGAAGATAATTGCTTTACAGAATGGGGAGCGATCTCTGAAATCGCCCATTCAGTCCGACTTGGATGCGTTCC
ACTCGGGATTTCAAACATGCGCCAAAGAAGTCTTGCAATACCTCTCCCGGTTTGAGAGCTGGACACCCAGGGAGCCGCGGTGTGTCCAGC
TGATCAACCACTTGCACGCCGTGGCCACCCAGTTCTTGCCCACCCCGCAGCTGTTGACTCAACAGGTCCCTCTGAGCAAAGGCACCGGCG
CTCCCTCGGCCGCCGGGTCCGCGGCCGCCCCCTGCCTGGAGCGCGCGGGGCAGAAGCTGGAGCCCCTCGCCTACTGCGTGCCCGTCATCC
AGCGGACTCAGCCCAGCGCCGAGCTCGCCGCCGAGAACGACACGGACACCGACAGCGGCTACGGCGGCGAAGCCGAGGCCCGGCCGGACC
GCGAGAAAGGCAAAGGCGCGGGGGCGAGCCGCGTCACCATCAAGCAGGAGCCTCCCGGGGAGGACTCGCCGGCGCCCAAGAGGATGAAGC
TGGATTCCCGCGGCGGCGGCAGCGGCGGCGGCCCGGGGGGCGGCGCGGCGGCGGCGGCAGCCGCGCTTCTGGGGCCCGACCCTGCCGCCG
CGGCCGCGCTGCTGAGACCCGACGCCGCCCTGCTCAGCTCGCTGGTGGCGTTCGGCGGAGGCGGAGGCGCGCCCTTCCCGCAGCCCGCGG
CCGCCGCGGCCCCCTTCTGCCTGCCCTTCTGCTTCCTCTCGCCTTCTGCAGCTGCCGCCTACGTGCAGCCCTTCCTGGACAAGAGCGGCC
TGGAGAAGTATCTGTACCCGGCGGCGGCTGCCGCCCCGTTCCCGCTGCTATACCCCGGCATCCCCGCCCCGGCGGCAGCCGCGGCAGCCG
CCGCCGCCGCTGCCGCCGCCGCCGCCGCGTTCCCCTGCCTGTCCTCGGTGTTGTCGCCCCCTCCCGAGAAGGCGGGCGCCGCCGCCGCGA
CCCTCCTGCCGCACGAGGTGGCGCCCCTTGGGGCGCCGCACCCCCAGCACCCGCACGGCCGCACCCACCTGCCCTTCGCCGGGCCCCGCG
AGCCGGGGAACCCGGAGAGCTCTGCTCAGGAAGATCCCTCGCAGCCAGGAAAGGAAGCTCCCTGAATCCTTGCGTCCCGAAGGACGGAGG
TTCAAGCAGAGTGAGAAGTTAAAATACCCTTAAGGAGGTTCAAGCAGAGTGAGAAGTTAAAATACCCTTAAGGTCTTTAAGGGAGGAAGT
GTAATAGATGCACGACAGGCATAAACAAGAACAACAAAACAGGTGTTATGTGTACATTCGGAGTTCCTGTTTTGCTCATCCCGCACCACC
CCACCCTCCACACACTAACATCCCTTTCTTCCCCCCACCAGCTGTAAAAGATCCTATGCGAAAGACACTGGCTCTTTTTTTTAATCCCCC
AAATAAATTTTGCCCCCTTTTAGGCCATGTTCCATTATCTCTTAAAATTGGAACCTAATTCGAGAGGAAGTAAGAAGGGTCTGTTCTGTG
GCTGAGCTAGGTGAACCCCGGGGTAGGGGAAAGATGTTAACACCTTTGACGTCTTTGGAGTTGACATGGAACAGCAGGTAGTTGTTATGT
AGAGCTAGTTCTCAAAGCTGCCCTGCCTGTTTTAGGAGGCGTTCCACAAACAGATTGAGGCTCTTTTAGAATTGAATTTACTCTTCAGTA
TTTTCTAATGTTCAGCTTTCTAAAAGGCATATATTTTTCAAAGAAGTGAGGATGCAGTTTCTCACGTTGCAACCTATTCTGAAGTGGTTT
AAATGGTATCTCTTAGTAACTTGCACTCGTTAAAGAAACACGGAGCTGGGCCATCGTCAGAACTAAGTCAGGGAAGGAGATGGATGAGAA
GGCCAGAATCATTCCTAGTACATTTGCTAACACTTTATTGAGAAATTGACCATGAATTAATGGACTCATCTTAATTTCTTCTAAGTCCAT
ATATAGATAGATATCTATCTGTACAGATTTCTATTTATCCATAGATAGGTATCTATACATACACATCTCAAGTGCATCTATTCCCACTCT
CATTAATCCATCATGTTCCTAAATTTTTGTAATCTTACTGTAAAAAAAAGTGCACTGAACTTCAAAACAAAACAAAAAACAACAACAACA
AAAAACAAGTCCAAACTGATATATCCTATATTCTGTTAAAATTCAAAAGTGAACGAAAGCATTTAACTGGCCAGTTTTGATTGCAAATGC
TGTAAAGATATAGAATGAAGTCCTGTGAGGCCTTCCTATCTCCAAGTCTATGTATTTTCTGGAGACCAAACCAGATACCAGATAATCACA
AAGAAAGCTTTTTTAATAAGGCTTAAACCAAGACCTTGTCTAGATATTTTTAGTTTGTTGCCAAGGTAGCACTGTGAGAAATCTCACTTG
GATGTTATGTAAGGGGTGAGACACAACAGTCTGACTATGAGTGAGGAAAATATCTGGGTCTTTTCGTCAGTTTGGTGCATTTGCTGCTGC
TGTTGCTACTGTTTGCCTCAAACGCTGTGTTTAAACAACGTTAAACTCTTAGCCTACAAGGTGGCTCTTATGTACATAGTTGTTAATACA
TCCAATTAATGATGTCTGACATGCTATTTTTGTAGGGAGAAAATATGTGCTAATGATATTTTGAGTTAAAATATCTTTTGGGGAGGATTT
GCTGAAAAGTTGCACTTTTGTTACAATGCTTATGCTTGGTACAAGCTTATGCTGTCTTAAATTATTTTAAAAAAATAAATACTGTCTGTG
AGAAACCAGCTGGTTTAGAAAAGTTTAGTATGTGACGATAAACTAGAAATTACCTTTATATTCTAGTATTTTCAGCACTCCATAAATTCT
ATTACCTAAATATTGCCACACTATTTTGTGATTTAAAAATTCTTACTAAGGAATAAAAACTTTAATATACGATATGATATTGTCTAATAA
TTAAAAAAGACATAATGGATGCTCAATTAGTTTTAAGATATCTATAACTATAGGGATACAAATCACTACAGTTCTCAGATTTACAGCTTT
TTTTTGTCATTGGCTTGATGTCACACATTTCCAATCTCTTGCAAGCCTCCAGGCTCTGGCTTTGTCTACCTGCTCGTTCCCAATGTATCT

>80202_80202_1_SEL1L3-BHLHE41_SEL1L3_chr4_25836818_ENST00000264868_BHLHE41_chr12_26277515_ENST00000242728_length(amino acids)=734AA_BP=273
MGAGQLRGTTPGGTLALRPAGMAPRPKKQPDKNPLHGRELNVVPSLGRQTSLTTSVIPKAEQSVAYKDFIYFTVFEGNVRNVSEVSVEYL
CSQPCVVNLEAVVSSEFRSSIPVYKKRWKNEKHLHTSRTQIVHVKFPSIMVYRDDYFIRHSISVSAVIVRAWITHKYSGRDWNVKWEENL
LHAVAKNYTLLQTIPPFERPFKDHQVCLEWNMGYIWNLRANRIPQCPLENDVVALLGFPYASSGENTGIVKKFPRFRNRELEATRRQRMD
YPVLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHLKALTALTEQQHQ
KIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCVQLINHLHAVATQFLPTPQLLTQQVPLSKGTGAPSAAGS
AAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDSGYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPAPKRMKLDSRGGG
SGGGPGGGAAAAAAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFCFLSPSAAAAYVQPFLDKSGLEKYLYP
AAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVAPLGAPHPQHPHGRTHLPFAGPREPGNPES

--------------------------------------------------------------
>80202_80202_2_SEL1L3-BHLHE41_SEL1L3_chr4_25836818_ENST00000399878_BHLHE41_chr12_26277515_ENST00000242728_length(transcript)=4410nt_BP=983nt
CGGCAGGTGGCCCCGCGCGCGGCGGCCGGCCCGGCCGGGGGCGGGCGGGAAGGTGGCGCCTCGGGCGGGGGCCGGTCCCTGCACCAGGTG
ACCTGTTCCGGCCCGGATCCGGGCGGCCTCGCCATGCAGCGGCGCGGCGCGGGGCTCGGGTGGCCGCGGCAGCAGCAGCAGCAACCCCCG
CCGCTCGCGGTCGGCCCCCGGGCCGCAGCCATGGTCCCGAGTGGCGGCGTCCCCCAGGGCCTCGGCGGCCGCTCTGCCTGCGCGCTGCTC
CTGCTCTGCTACCTGAATGTTGTACCATCTTTGGGTAGGCAGACTTCCCTGACGACATCAGTGATACCCAAAGCTGAGCAGAGCGTGGCT
TACAAAGACTTTATTTATTTTACTGTCTTTGAAGGAAACGTTCGCAACGTTTCTGAAGTCTCGGTTGAGTATTTATGCTCTCAGCCTTGT
GTTGTCAATTTGGAAGCAGTTGTTTCATCTGAGTTCAGAAGTAGCATTCCCGTGTACAAAAAAAGGTGGAAGAATGAGAAACATCTTCAC
ACCAGCAGGACACAAATAGTACATGTGAAATTTCCAAGCATTATGGTTTACAGAGATGATTATTTCATCAGACATTCCATCTCTGTATCT
GCAGTGATAGTACGCGCCTGGATTACTCACAAATACAGTGGCAGAGACTGGAATGTTAAATGGGAGGAAAACTTGCTCCATGCTGTAGCA
AAGAATTATACCCTCCTGCAGACCATCCCGCCTTTTGAACGCCCTTTCAAAGATCATCAAGTGTGCCTTGAGTGGAACATGGGTTATATT
TGGAACCTTCGGGCAAACAGGATTCCACAGTGTCCTCTGGAAAATGATGTGGTTGCCCTGCTTGGCTTTCCTTATGCCTCCAGTGGAGAA
AACACAGGCATTGTCAAGAAGTTCCCGAGGTTTCGGAACCGAGAGCTGGAGGCCACTCGACGCCAGAGGATGGATTACCCAGTACTGGAC
TATTCCTCTTTGTATATGTGTAAACCCAAAAGGAGCATGAAACGAGACGACACCAAGGATACCTACAAATTACCGCACAGATTAATAGAA
AAGAAAAGAAGAGACCGAATTAATGAATGCATTGCTCAGCTGAAAGATTTACTGCCTGAACATCTGAAATTGACAACTCTGGGACATCTG
GAGAAAGCTGTAGTCTTGGAATTAACTTTGAAACACTTAAAAGCTTTAACCGCCTTAACCGAGCAACAGCATCAGAAGATAATTGCTTTA
CAGAATGGGGAGCGATCTCTGAAATCGCCCATTCAGTCCGACTTGGATGCGTTCCACTCGGGATTTCAAACATGCGCCAAAGAAGTCTTG
CAATACCTCTCCCGGTTTGAGAGCTGGACACCCAGGGAGCCGCGGTGTGTCCAGCTGATCAACCACTTGCACGCCGTGGCCACCCAGTTC
TTGCCCACCCCGCAGCTGTTGACTCAACAGGTCCCTCTGAGCAAAGGCACCGGCGCTCCCTCGGCCGCCGGGTCCGCGGCCGCCCCCTGC
CTGGAGCGCGCGGGGCAGAAGCTGGAGCCCCTCGCCTACTGCGTGCCCGTCATCCAGCGGACTCAGCCCAGCGCCGAGCTCGCCGCCGAG
AACGACACGGACACCGACAGCGGCTACGGCGGCGAAGCCGAGGCCCGGCCGGACCGCGAGAAAGGCAAAGGCGCGGGGGCGAGCCGCGTC
ACCATCAAGCAGGAGCCTCCCGGGGAGGACTCGCCGGCGCCCAAGAGGATGAAGCTGGATTCCCGCGGCGGCGGCAGCGGCGGCGGCCCG
GGGGGCGGCGCGGCGGCGGCGGCAGCCGCGCTTCTGGGGCCCGACCCTGCCGCCGCGGCCGCGCTGCTGAGACCCGACGCCGCCCTGCTC
AGCTCGCTGGTGGCGTTCGGCGGAGGCGGAGGCGCGCCCTTCCCGCAGCCCGCGGCCGCCGCGGCCCCCTTCTGCCTGCCCTTCTGCTTC
CTCTCGCCTTCTGCAGCTGCCGCCTACGTGCAGCCCTTCCTGGACAAGAGCGGCCTGGAGAAGTATCTGTACCCGGCGGCGGCTGCCGCC
CCGTTCCCGCTGCTATACCCCGGCATCCCCGCCCCGGCGGCAGCCGCGGCAGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCGTTCCCC
TGCCTGTCCTCGGTGTTGTCGCCCCCTCCCGAGAAGGCGGGCGCCGCCGCCGCGACCCTCCTGCCGCACGAGGTGGCGCCCCTTGGGGCG
CCGCACCCCCAGCACCCGCACGGCCGCACCCACCTGCCCTTCGCCGGGCCCCGCGAGCCGGGGAACCCGGAGAGCTCTGCTCAGGAAGAT
CCCTCGCAGCCAGGAAAGGAAGCTCCCTGAATCCTTGCGTCCCGAAGGACGGAGGTTCAAGCAGAGTGAGAAGTTAAAATACCCTTAAGG
AGGTTCAAGCAGAGTGAGAAGTTAAAATACCCTTAAGGTCTTTAAGGGAGGAAGTGTAATAGATGCACGACAGGCATAAACAAGAACAAC
AAAACAGGTGTTATGTGTACATTCGGAGTTCCTGTTTTGCTCATCCCGCACCACCCCACCCTCCACACACTAACATCCCTTTCTTCCCCC
CACCAGCTGTAAAAGATCCTATGCGAAAGACACTGGCTCTTTTTTTTAATCCCCCAAATAAATTTTGCCCCCTTTTAGGCCATGTTCCAT
TATCTCTTAAAATTGGAACCTAATTCGAGAGGAAGTAAGAAGGGTCTGTTCTGTGGCTGAGCTAGGTGAACCCCGGGGTAGGGGAAAGAT
GTTAACACCTTTGACGTCTTTGGAGTTGACATGGAACAGCAGGTAGTTGTTATGTAGAGCTAGTTCTCAAAGCTGCCCTGCCTGTTTTAG
GAGGCGTTCCACAAACAGATTGAGGCTCTTTTAGAATTGAATTTACTCTTCAGTATTTTCTAATGTTCAGCTTTCTAAAAGGCATATATT
TTTCAAAGAAGTGAGGATGCAGTTTCTCACGTTGCAACCTATTCTGAAGTGGTTTAAATGGTATCTCTTAGTAACTTGCACTCGTTAAAG
AAACACGGAGCTGGGCCATCGTCAGAACTAAGTCAGGGAAGGAGATGGATGAGAAGGCCAGAATCATTCCTAGTACATTTGCTAACACTT
TATTGAGAAATTGACCATGAATTAATGGACTCATCTTAATTTCTTCTAAGTCCATATATAGATAGATATCTATCTGTACAGATTTCTATT
TATCCATAGATAGGTATCTATACATACACATCTCAAGTGCATCTATTCCCACTCTCATTAATCCATCATGTTCCTAAATTTTTGTAATCT
TACTGTAAAAAAAAGTGCACTGAACTTCAAAACAAAACAAAAAACAACAACAACAAAAAACAAGTCCAAACTGATATATCCTATATTCTG
TTAAAATTCAAAAGTGAACGAAAGCATTTAACTGGCCAGTTTTGATTGCAAATGCTGTAAAGATATAGAATGAAGTCCTGTGAGGCCTTC
CTATCTCCAAGTCTATGTATTTTCTGGAGACCAAACCAGATACCAGATAATCACAAAGAAAGCTTTTTTAATAAGGCTTAAACCAAGACC
TTGTCTAGATATTTTTAGTTTGTTGCCAAGGTAGCACTGTGAGAAATCTCACTTGGATGTTATGTAAGGGGTGAGACACAACAGTCTGAC
TATGAGTGAGGAAAATATCTGGGTCTTTTCGTCAGTTTGGTGCATTTGCTGCTGCTGTTGCTACTGTTTGCCTCAAACGCTGTGTTTAAA
CAACGTTAAACTCTTAGCCTACAAGGTGGCTCTTATGTACATAGTTGTTAATACATCCAATTAATGATGTCTGACATGCTATTTTTGTAG
GGAGAAAATATGTGCTAATGATATTTTGAGTTAAAATATCTTTTGGGGAGGATTTGCTGAAAAGTTGCACTTTTGTTACAATGCTTATGC
TTGGTACAAGCTTATGCTGTCTTAAATTATTTTAAAAAAATAAATACTGTCTGTGAGAAACCAGCTGGTTTAGAAAAGTTTAGTATGTGA
CGATAAACTAGAAATTACCTTTATATTCTAGTATTTTCAGCACTCCATAAATTCTATTACCTAAATATTGCCACACTATTTTGTGATTTA
AAAATTCTTACTAAGGAATAAAAACTTTAATATACGATATGATATTGTCTAATAATTAAAAAAGACATAATGGATGCTCAATTAGTTTTA
AGATATCTATAACTATAGGGATACAAATCACTACAGTTCTCAGATTTACAGCTTTTTTTTGTCATTGGCTTGATGTCACACATTTCCAAT
CTCTTGCAAGCCTCCAGGCTCTGGCTTTGTCTACCTGCTCGTTCCCAATGTATCTTAATGAAAAGTGCAAAAGAAAAACCTACCAATTAA

>80202_80202_2_SEL1L3-BHLHE41_SEL1L3_chr4_25836818_ENST00000399878_BHLHE41_chr12_26277515_ENST00000242728_length(amino acids)=763AA_BP=302
MHQVTCSGPDPGGLAMQRRGAGLGWPRQQQQQPPPLAVGPRAAAMVPSGGVPQGLGGRSACALLLLCYLNVVPSLGRQTSLTTSVIPKAE
QSVAYKDFIYFTVFEGNVRNVSEVSVEYLCSQPCVVNLEAVVSSEFRSSIPVYKKRWKNEKHLHTSRTQIVHVKFPSIMVYRDDYFIRHS
ISVSAVIVRAWITHKYSGRDWNVKWEENLLHAVAKNYTLLQTIPPFERPFKDHQVCLEWNMGYIWNLRANRIPQCPLENDVVALLGFPYA
SSGENTGIVKKFPRFRNRELEATRRQRMDYPVLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTT
LGHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCVQLINHLHAV
ATQFLPTPQLLTQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDSGYGGEAEARPDREKGKGAG
ASRVTIKQEPPGEDSPAPKRMKLDSRGGGSGGGPGGGAAAAAAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCL
PFCFLSPSAAAAYVQPFLDKSGLEKYLYPAAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVA

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Fusion Gene PPI Analysis for SEL1L3-BHLHE41


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


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Related Drugs for SEL1L3-BHLHE41


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 SEL1L3-BHLHE41


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human