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:MYL12B-GGT1 (FusionGDB2 ID:56437)

Fusion Gene Summary for MYL12B-GGT1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYL12B-GGT1
Fusion gene ID: 56437
HgeneTgene
Gene symbol

MYL12B

GGT1

Gene ID

103910

2678

Gene namemyosin light chain 12Bgamma-glutamyltransferase 1
SynonymsMLC-B|MRLC2CD224|D22S672|D22S732|GGT|GGT 1|GGTD|GTG
Cytomap

18p11.31

22q11.23

Type of geneprotein-codingprotein-coding
Descriptionmyosin regulatory light chain 12BMLC-2MLC-2AMLC20SHUJUN-1myosin regulatory light chain 2myosin regulatory light chain 2-B, smooth muscle isoformmyosin regulatory light chain 20 kDamyosin regulatory light chain MRLC2myosin, light chain 12B, regulaglutathione hydrolase 1 proenzymegamma-glutamyltranspeptidase 1glutathione hydrolase 1leukotriene-C4 hydrolasetesticular tissue protein Li 73
Modification date2020031320200329
UniProtAcc

O14950

P19440

Ensembl transtripts involved in fusion geneENST00000237500, ENST00000400175, 
ENST00000581193, ENST00000584539, 
ENST00000248923, ENST00000400380, 
ENST00000400382, ENST00000400383, 
ENST00000401885, ENST00000403838, 
ENST00000404223, ENST00000404532, 
ENST00000404920, ENST00000406383, 
ENST00000466310, 
Fusion gene scores* DoF score6 X 6 X 4=1441 X 1 X 1=1
# samples 81
** MAII scorelog2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: MYL12B [Title/Abstract] AND GGT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYL12B(3278277)-GGT1(25010315), # 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
TgeneGGT1

GO:0006520

cellular amino acid metabolic process

14754911

TgeneGGT1

GO:0006536

glutamate metabolic process

24047895

TgeneGGT1

GO:0006631

fatty acid metabolic process

21447318

TgeneGGT1

GO:0006751

glutathione catabolic process

17924658|21447318

TgeneGGT1

GO:0031638

zymogen activation

23682772

TgeneGGT1

GO:1901750

leukotriene D4 biosynthetic process

21447318


check buttonFusion gene breakpoints across MYL12B (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 GGT1 (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/ABM016035MYL12Bchr18

3278277

+GGT1chr22

25010315

+


Top

Fusion Gene ORF analysis for MYL12B-GGT1

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-intronENST00000237500ENST00000248923MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000400380MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000400382MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000400383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000401885MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000403838MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000404223MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000404532MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000404920MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000406383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000237500ENST00000466310MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000248923MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000400380MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000400382MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000400383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000401885MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000403838MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000404223MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000404532MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000404920MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000406383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000400175ENST00000466310MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000248923MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000400380MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000400382MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000400383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000401885MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000403838MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000404223MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000404532MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000404920MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000406383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000581193ENST00000466310MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000248923MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000400380MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000400382MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000400383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000401885MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000403838MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000404223MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000404532MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000404920MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000406383MYL12Bchr18

3278277

+GGT1chr22

25010315

+
5CDS-intronENST00000584539ENST00000466310MYL12Bchr18

3278277

+GGT1chr22

25010315

+

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

Top

Fusion Genomic Features for MYL12B-GGT1


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.

Top

Fusion Protein Features for MYL12B-GGT1


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/:3278277/:25010315)
- 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
MYL12B

O14950

GGT1

P19440

FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion. {ECO:0000269|PubMed:10965042}.FUNCTION: Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates and other gamma-glutamyl compounds, such as leukotriene C4 (LTC4). The metabolism of glutathione by GGT1 releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound (PubMed:17924658, PubMed:7673200, PubMed:7759490, PubMed:8095045, PubMed:8827453, PubMed:21447318). Contributes to cysteine homeostasis, glutathione homeostasis and in the conversion of the leukotriene LTC4 to LTD4. {ECO:0000269|PubMed:17924658, ECO:0000269|PubMed:20622017, ECO:0000269|PubMed:21447318, ECO:0000269|PubMed:24047895, ECO:0000269|PubMed:7673200, ECO:0000269|PubMed:7759490, ECO:0000269|PubMed:8095045, ECO:0000269|PubMed:8827453}.; FUNCTION: [Isoform 3]: Seems to be inactive. {ECO:0000269|PubMed:7689219}.

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


Top

Fusion Gene Sequence for MYL12B-GGT1


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.

Top

Fusion Gene PPI Analysis for MYL12B-GGT1


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 MYL12B-GGT1


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 MYL12B-GGT1


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