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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:HINT1-MYL12A (FusionGDB2 ID:36370)

Fusion Gene Summary for HINT1-MYL12A

check button Fusion gene summary
Fusion gene informationFusion gene name: HINT1-MYL12A
Fusion gene ID: 36370
HgeneTgene
Gene symbol

HINT1

MYL12A

Gene ID

3094

10627

Gene namehistidine triad nucleotide binding protein 1myosin light chain 12A
SynonymsHINT|NMAN|PKCI-1|PRKCNH1HEL-S-24|MLC-2B|MLCB|MRCL3|MRLC3|MYL2B
Cytomap

5q23.3

18p11.31

Type of geneprotein-codingprotein-coding
Descriptionhistidine triad nucleotide-binding protein 1adenosine 5'-monophosphoramidaseepididymis secretory sperm binding proteinprotein kinase C inhibitor 1protein kinase C-interacting protein 1myosin regulatory light chain 12Aepididymis secretory protein Li 24myosin RLCmyosin regulatory light chain 2, nonsarcomericmyosin regulatory light chain 3myosin regulatory light chain MRLC3myosin, light chain 12A, regulatory, non-sarcomericmyosin,
Modification date2020031320200313
UniProtAcc

P49773

P19105

Ensembl transtripts involved in fusion geneENST00000304043, ENST00000506207, 
ENST00000506908, ENST00000508488, 
ENST00000513012, 		ENST00000217652, 
ENST00000578611, ENST00000536605, 
ENST00000579226, ENST00000580887, 
ENST00000585090, 
Fusion gene scores* DoF score6 X 8 X 2=9611 X 10 X 5=550
# samples 813
** MAII scorelog2(8/96*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/550*10)=-2.08091999538357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HINT1 [Title/Abstract] AND MYL12A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHINT1(130500937)-MYL12A(3247826), # samples:1
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
HgeneHINT1

GO:0009154

purine ribonucleotide catabolic process

16835243


check buttonFusion gene breakpoints across HINT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MYL12A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/ABC011398HINT1chr5

130500937

+MYL12Achr18

3247826

+


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Fusion Gene ORF analysis for HINT1-MYL12A

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
intron-5UTRENST00000304043ENST00000217652HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000304043ENST00000578611HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000506207ENST00000217652HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000506207ENST00000578611HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000506908ENST00000217652HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000506908ENST00000578611HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000508488ENST00000217652HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000508488ENST00000578611HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000513012ENST00000217652HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-5UTRENST00000513012ENST00000578611HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000304043ENST00000536605HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000304043ENST00000579226HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000304043ENST00000580887HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000304043ENST00000585090HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506207ENST00000536605HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506207ENST00000579226HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506207ENST00000580887HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506207ENST00000585090HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506908ENST00000536605HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506908ENST00000579226HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506908ENST00000580887HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000506908ENST00000585090HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000508488ENST00000536605HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000508488ENST00000579226HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000508488ENST00000580887HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000508488ENST00000585090HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000513012ENST00000536605HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000513012ENST00000579226HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000513012ENST00000580887HINT1chr5

130500937

+MYL12Achr18

3247826

+
intron-intronENST00000513012ENST00000585090HINT1chr5

130500937

+MYL12Achr18

3247826

+

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)

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

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Fusion Genomic Features for HINT1-MYL12A


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.

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.

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Fusion Protein Features for HINT1-MYL12A


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/:130500937/:3247826)
- 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
HINT1

P49773

MYL12A

P19105

FUNCTION: Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1. Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:15703176, ECO:0000269|PubMed:16014379, ECO:0000269|PubMed:16835243, ECO:0000269|PubMed:19112177, ECO:0000269|PubMed:22329685, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:9323207}.FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (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

- 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 HINT1-MYL12A


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.

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Fusion Gene PPI Analysis for HINT1-MYL12A


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 HINT1-MYL12A


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 HINT1-MYL12A


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