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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:STKLD1-DBH (FusionGDB2 ID:HG169436TG1621)

Fusion Gene Summary for STKLD1-DBH

check button Fusion gene summary
Fusion gene informationFusion gene name: STKLD1-DBH
Fusion gene ID: hg169436tg1621
HgeneTgene
Gene symbol

STKLD1

DBH

Gene ID

169436

1621

Gene nameserine/threonine kinase like domain containing 1dopamine beta-hydroxylase
SynonymsC9orf96|SgK071|Sk521DBM|ORTHYP1
Cytomap('C9orf96','STKLD1')('DBH','DBH')

9q34.2

9q34.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine kinase-like domain-containing protein STKLD1probable inactive protein kinase-like protein SgK071serine/threonine kinase-like domain-containing protein 1sugen kinase 071dopamine beta-hydroxylasedopamine beta-hydroxylase (dopamine beta-monooxygenase)
Modification date2020031320200313
UniProtAcc.

P09172

Ensembl transtripts involved in fusion geneENST00000468046, ENST00000371955, 
ENST00000371957, ENST00000426926, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: STKLD1 [Title/Abstract] AND DBH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC9orf96(136245993)-DBH(136516756), # samples:1
STKLD1(136245993)-DBH(136516756), # samples:1
Anticipated loss of major functional domain due to fusion event.C9orf96-DBH 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.
C9orf96-DBH 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
TgeneDBH

GO:0042420

dopamine catabolic process

3443096|7961964


check buttonFusion gene breakpoints across C9orf96 (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 DBH (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
ChimerDB4LUSCTCGA-22-5480-01ASTKLD1chr9

136245993

+DBHchr9

136516756

+
ChimerDB4LUSCTCGA-22-5480C9orf96chr9

136245993

+DBHchr9

136516756

+


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Fusion Gene ORF analysis for STKLD1-DBH

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
3UTR-3CDSENST00000468046ENST00000393056C9orf96chr9

136245993

+DBHchr9

136516756

+
5UTR-3CDSENST00000371955ENST00000393056C9orf96chr9

136245993

+DBHchr9

136516756

+
In-frameENST00000371957ENST00000393056C9orf96chr9

136245993

+DBHchr9

136516756

+
In-frameENST00000426926ENST00000393056C9orf96chr9

136245993

+DBHchr9

136516756

+

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)
ENST00000426926C9orf96chr9136245993+ENST00000393056DBHchr9136516756+1962402841064326
ENST00000371957C9orf96chr9136245993+ENST00000393056DBHchr9136516756+184128147943298

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
ENST00000426926ENST00000393056C9orf96chr9136245993+DBHchr9136516756+0.0164011080.9835988
ENST00000371957ENST00000393056C9orf96chr9136245993+DBHchr9136516756+0.0159526840.98404735

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Fusion Genomic Features for STKLD1-DBH


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)
C9orf96chr9136245993+DBHchr9136516755+0.0309166550.9690833
C9orf96chr9136245993+DBHchr9136516755+0.0309166550.9690833

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%

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Fusion Protein Features for STKLD1-DBH


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/:136245993/:136516756)
- 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
.DBH

P09172

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: Conversion of dopamine to noradrenaline. {ECO:0000269|PubMed:27148966, ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:7961964, ECO:0000269|PubMed:8546710}.

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
HgeneC9orf96chr9:136245993chr9:136516756ENST00000371957+21834_4258681.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC9orf96chr9:136245993chr9:136516756ENST00000371955+21628_2970214.0DomainProtein kinase
HgeneC9orf96chr9:136245993chr9:136516756ENST00000371957+21828_29758681.0DomainProtein kinase
HgeneC9orf96chr9:136245993chr9:136516756ENST00000371955+21634_420214.0Nucleotide bindingATP
TgeneDBHchr9:136245993chr9:136516756ENST0000039305651257_173397618.0DomainDOMON
TgeneDBHchr9:136245993chr9:136516756ENST000003930565121_16397618.0Topological domainCytoplasmic
TgeneDBHchr9:136245993chr9:136516756ENST0000039305651238_617397618.0Topological domainIntragranular
TgeneDBHchr9:136245993chr9:136516756ENST0000039305651217_37397618.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for STKLD1-DBH


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.
>12164_12164_1_C9orf96-DBH_C9orf96_chr9_136245993_ENST00000371957_DBH_chr9_136516756_ENST00000393056_length(transcript)=1841nt_BP=281nt
AGTGCCTCGAGGGCGCCGTTCGGGCGGGGAGGATCCCGCGGGTCCCACTGACCCACGCGGGGTGGGGCCAGGGGTGGACGCTCGCCCGTA
CGCGGTCGCTACTGATCATGCTTGGGCCAGGGTCCAATCGCAGGCGCCCCACGCAGGGGGAGCGAGGCCCAGGGTCCCCCGGAGAGCCCA
TGGAGAAGTACCAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTGGTGGAGGAAATGGAAACCAAAGTCAAGCATG
TGATAAAGCAGGCACTGCCTCCCTCCGGGATCCACATCTTCGCCTCTCAGCTCCACACACACCTGACTGGGAGAAAGGTGGTCACAGTGC
TGGTCCGGGACGGCCGGGAGTGGGAGATCGTGAACCAGGACAATCACTACAGCCCTCACTTCCAGGAGATCCGCATGTTGAAGAAGGTCG
TGTCGGTCCATCCGGGAGATGTGCTCATCACCTCCTGCACGTACAACACAGAAGACCGGGAGCTGGCCACAGTGGGGGGCTTCGGGATCC
TGGAGGAGATGTGTGTCAACTACGTGCACTACTACCCCCAGACGCAGCTGGAGCTCTGCAAGAGCGCTGTGGACGCCGGCTTCCTGCAGA
AGTACTTCCACCTCATCAACAGGTTCAACAACGAGGATGTCTGCACCTGCCCTCAGGCGTCCGTGTCTCAGCAGTTCACCTCTGTTCCCT
GGAACTCCTTCAACCGCGACGTACTGAAGGCCCTGTACAGCTTCGCGCCCATCTCCATGCACTGCAACAAGTCCTCAGCCGTCCGCTTCC
AGGGTGAATGGAACCTGCAGCCCCTGCCCAAGGTCATCTCCACACTGGAAGAGCCCACCCCACAGTGCCCCACCAGCCAGGGCCGAAGCC
CTGCTGGCCCCACCGTTGTCAGCATTGGTGGGGGCAAAGGCTGAGGGGGGACCTACTCCTCCCCCTCCTCCATGCTGTCCCTGTGGGCTC
ACACCGGCACTGTGCACTCTACTCTGCGACGATCCCCATGGAACAGCCCTGCACGCCCAGGATGAAGGGGCCAGACCACGCCCCTGCCTG
AGACCACGGTCCAATCCAGCCTTCTTCCCCCAGGGTCCCCTGCATGGCTGAGAGGGTGTGGGTGCCCTGTTGACCTACCCTGGACCGAGT
GGACCACGACCTCGTCCATTTAAACCCGGCTGACTCAGTGCAGGGACAGCCTGCACAGTGGTCCAGGGTCCAGCCCTCCGCCAGCCCTGT
TCCGCCTCACTGGGTGTGGCCTGGCTTCTGGGACAGGCACCATGCTGGGCCGGGGTGTGGAATCACCGGGAACGCCCCCGCCCCCGCCCC
GCTGCTCCCGGTGTGCAGCGGGTGCGGGTGCCGCTTAAACATTTCCCTGCTGAGTGGCTCGTGTTTCACAGTGGGCGGCTTCCCTGCGAC
GGAGGCAGGACCAGGCATTTAGCTAGTTAGAGACTCGCCTGGGAAATTGCTCCATTCCTGAGTAAACAGATATTTTCGCCCACCTAAAGG
GAAGCCCTGACAACAACTATCACCAAAAGACGAGGCGGCAAAGATCCAGCGGGGCTTCTGGGCGCCGGTTCCACGTGGGGTGGAATTATT
AGCACCAGCTTGCTTCTCTGCCGGTGGGGCCAGCGCTGAACAGACCGGGGTGGAGTCAGGGCTGTGCTTTCCGCGTGGTTCTGCCACTTA
GGGAGTGTGCCTTGGGCGGGCCATTTCACATTCCTGACCCTCACTTTTCTCATCTGTAAAACCAGGCTGATGCCGTGCGGGCTAATGAGC

>12164_12164_1_C9orf96-DBH_C9orf96_chr9_136245993_ENST00000371957_DBH_chr9_136516756_ENST00000393056_length(amino acids)=298AA_BP=1
MTHAGWGQGWTLARTRSLLIMLGPGSNRRRPTQGERGPGSPGEPMEKYQVLYQLNPGALGVNLVVEEMETKVKHVIKQALPPSGIHIFAS
QLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGGFGILEEMCVNYVHYYPQTQ
LELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGEWNLQPLPKVISTL

--------------------------------------------------------------
>12164_12164_2_C9orf96-DBH_C9orf96_chr9_136245993_ENST00000426926_DBH_chr9_136516756_ENST00000393056_length(transcript)=1962nt_BP=402nt
ACGCTGGAGGCCCCGCCCGCCGCGCGCAGGCCCTGCGGTCCCTCCCGGCCCGGCGGAACGCGTCCCTTTTAAGGGGGCGGGGACCTGGGG
GTCTGGGGCCAGCGCGCGGGAGGGACGCCTGAGTGCCTCGAGGGCGCCGTTCGGGCGGGGAGGATCCCGCGGGTCCCACTGACCCACGCG
GGGTGGGGCCAGGGGTGGACGCTCGCCCGTACGCGGTCGCTACTGATCATGCTTGGGCCAGGGTCCAATCGCAGGCGCCCCACGCAGGGG
GAGCGAGGCCCAGGGTCCCCCGGAGAGCCCATGGAGAAGTACCAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTG
GTGGAGGAAATGGAAACCAAAGTCAAGCATGTGATAAAGCAGGCACTGCCTCCCTCCGGGATCCACATCTTCGCCTCTCAGCTCCACACA
CACCTGACTGGGAGAAAGGTGGTCACAGTGCTGGTCCGGGACGGCCGGGAGTGGGAGATCGTGAACCAGGACAATCACTACAGCCCTCAC
TTCCAGGAGATCCGCATGTTGAAGAAGGTCGTGTCGGTCCATCCGGGAGATGTGCTCATCACCTCCTGCACGTACAACACAGAAGACCGG
GAGCTGGCCACAGTGGGGGGCTTCGGGATCCTGGAGGAGATGTGTGTCAACTACGTGCACTACTACCCCCAGACGCAGCTGGAGCTCTGC
AAGAGCGCTGTGGACGCCGGCTTCCTGCAGAAGTACTTCCACCTCATCAACAGGTTCAACAACGAGGATGTCTGCACCTGCCCTCAGGCG
TCCGTGTCTCAGCAGTTCACCTCTGTTCCCTGGAACTCCTTCAACCGCGACGTACTGAAGGCCCTGTACAGCTTCGCGCCCATCTCCATG
CACTGCAACAAGTCCTCAGCCGTCCGCTTCCAGGGTGAATGGAACCTGCAGCCCCTGCCCAAGGTCATCTCCACACTGGAAGAGCCCACC
CCACAGTGCCCCACCAGCCAGGGCCGAAGCCCTGCTGGCCCCACCGTTGTCAGCATTGGTGGGGGCAAAGGCTGAGGGGGGACCTACTCC
TCCCCCTCCTCCATGCTGTCCCTGTGGGCTCACACCGGCACTGTGCACTCTACTCTGCGACGATCCCCATGGAACAGCCCTGCACGCCCA
GGATGAAGGGGCCAGACCACGCCCCTGCCTGAGACCACGGTCCAATCCAGCCTTCTTCCCCCAGGGTCCCCTGCATGGCTGAGAGGGTGT
GGGTGCCCTGTTGACCTACCCTGGACCGAGTGGACCACGACCTCGTCCATTTAAACCCGGCTGACTCAGTGCAGGGACAGCCTGCACAGT
GGTCCAGGGTCCAGCCCTCCGCCAGCCCTGTTCCGCCTCACTGGGTGTGGCCTGGCTTCTGGGACAGGCACCATGCTGGGCCGGGGTGTG
GAATCACCGGGAACGCCCCCGCCCCCGCCCCGCTGCTCCCGGTGTGCAGCGGGTGCGGGTGCCGCTTAAACATTTCCCTGCTGAGTGGCT
CGTGTTTCACAGTGGGCGGCTTCCCTGCGACGGAGGCAGGACCAGGCATTTAGCTAGTTAGAGACTCGCCTGGGAAATTGCTCCATTCCT
GAGTAAACAGATATTTTCGCCCACCTAAAGGGAAGCCCTGACAACAACTATCACCAAAAGACGAGGCGGCAAAGATCCAGCGGGGCTTCT
GGGCGCCGGTTCCACGTGGGGTGGAATTATTAGCACCAGCTTGCTTCTCTGCCGGTGGGGCCAGCGCTGAACAGACCGGGGTGGAGTCAG
GGCTGTGCTTTCCGCGTGGTTCTGCCACTTAGGGAGTGTGCCTTGGGCGGGCCATTTCACATTCCTGACCCTCACTTTTCTCATCTGTAA

>12164_12164_2_C9orf96-DBH_C9orf96_chr9_136245993_ENST00000426926_DBH_chr9_136516756_ENST00000393056_length(amino acids)=326AA_BP=1
MGVWGQRAGGTPECLEGAVRAGRIPRVPLTHAGWGQGWTLARTRSLLIMLGPGSNRRRPTQGERGPGSPGEPMEKYQVLYQLNPGALGVN
LVVEEMETKVKHVIKQALPPSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTE
DRELATVGGFGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAPI

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

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Fusion Gene PPI Analysis for STKLD1-DBH


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 STKLD1-DBH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDBHP09172DB00822DisulfiramInhibitorSmall moleculeApproved
TgeneDBHP09172DB00988DopamineLigandSmall moleculeApproved
TgeneDBHP09172DB00126Ascorbic acidCofactorSmall moleculeApproved|Nutraceutical

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Related Diseases for STKLD1-DBH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0600427Cocaine Dependence5PSYGENET
TgeneC0525045Mood Disorders4PSYGENET
TgeneC4746777ORTHOSTATIC HYPOTENSION 14GENOMICS_ENGLAND;UNIPROT
TgeneC0041696Unipolar Depression3PSYGENET
TgeneC1269683Major Depressive Disorder3PSYGENET
TgeneC1306067Drug-induced paranoid state3PSYGENET
TgeneC1456784Paranoia3CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0031511Pheochromocytoma1CTD_human
TgeneC1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneC2239176Liver carcinoma1CTD_human