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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:MYO19-SLC11A1 (FusionGDB2 ID:56275)

Fusion Gene Summary for MYO19-SLC11A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO19-SLC11A1
Fusion gene ID: 56275
HgeneTgene
Gene symbol

MYO19

SLC11A1

Gene ID

80179

6556

Gene namemyosin XIXsolute carrier family 11 member 1
SynonymsMYOHD1LSH|NRAMP|NRAMP1
Cytomap

17q12

2q35

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-XIXmyosin head domain containing 1myosin head domain-containing protein 1natural resistance-associated macrophage protein 1NRAMP 1solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1solute carrier family 11 (sod
Modification date2020031320200322
UniProtAcc

Q96H55

.
Ensembl transtripts involved in fusion geneENST00000431794, ENST00000268852, 
ENST00000586007, ENST00000544606, 
ENST00000590081, 		ENST00000233202, 
ENST00000473367, ENST00000539932, 
Fusion gene scores* DoF score5 X 5 X 5=1252 X 2 X 2=8
# samples 62
** MAII scorelog2(6/125*10)=-1.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: MYO19 [Title/Abstract] AND SLC11A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYO19(34854110)-SLC11A1(219259648), # samples:1
Anticipated loss of major functional domain due to fusion event.MYO19-SLC11A1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
MYO19-SLC11A1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneMYO19

GO:0034642

mitochondrion migration along actin filament

19932026

TgeneSLC11A1

GO:0009617

response to bacterium

7717395


check buttonFusion gene breakpoints across MYO19 (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 SLC11A1 (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
ChimerDB4OVTCGA-29-1703-01AMYO19chr17

34854110

-SLC11A1chr2

219259648

+


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Fusion Gene ORF analysis for MYO19-SLC11A1

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
Frame-shiftENST00000431794ENST00000233202MYO19chr17

34854110

-SLC11A1chr2

219259648

+
5CDS-intronENST00000431794ENST00000473367MYO19chr17

34854110

-SLC11A1chr2

219259648

+
5CDS-intronENST00000431794ENST00000539932MYO19chr17

34854110

-SLC11A1chr2

219259648

+
Frame-shiftENST00000268852ENST00000233202MYO19chr17

34854110

-SLC11A1chr2

219259648

+
5CDS-intronENST00000268852ENST00000473367MYO19chr17

34854110

-SLC11A1chr2

219259648

+
5CDS-intronENST00000268852ENST00000539932MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-3CDSENST00000586007ENST00000233202MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-intronENST00000586007ENST00000473367MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-intronENST00000586007ENST00000539932MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-3CDSENST00000544606ENST00000233202MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-intronENST00000544606ENST00000473367MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-intronENST00000544606ENST00000539932MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-3CDSENST00000590081ENST00000233202MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-intronENST00000590081ENST00000473367MYO19chr17

34854110

-SLC11A1chr2

219259648

+
intron-intronENST00000590081ENST00000539932MYO19chr17

34854110

-SLC11A1chr2

219259648

+

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 MYO19-SLC11A1


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 MYO19-SLC11A1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO19

Q96H55

.
FUNCTION: Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane (PubMed:19932026, PubMed:23568824, PubMed:25447992). Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis (PubMed:25447992). May be involved in mitochondrial transport or positioning (PubMed:23568824). {ECO:0000250|UniProtKB:Q5SV80, ECO:0000269|PubMed:19932026, ECO:0000269|PubMed:25447992, ECO:0000305|PubMed:23568824}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 MYO19-SLC11A1


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 MYO19-SLC11A1


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 MYO19-SLC11A1


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 MYO19-SLC11A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC11A1C0003873Rheumatoid Arthritis1CTD_human
TgeneSLC11A1C0009324Ulcerative Colitis1CTD_human
TgeneSLC11A1C0010346Crohn Disease1CTD_human
TgeneSLC11A1C0011615Dermatitis, Atopic1CTD_human
TgeneSLC11A1C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneSLC11A1C0016470Food Allergy1CTD_human
TgeneSLC11A1C0019693HIV Infections1CTD_human
TgeneSLC11A1C0021390Inflammatory Bowel Diseases1CTD_human
TgeneSLC11A1C0022660Kidney Failure, Acute1CTD_human
TgeneSLC11A1C0023290Leishmaniasis, Visceral1CTD_human
TgeneSLC11A1C0023343Leprosy1CTD_human
TgeneSLC11A1C0025294Meningococcal meningitis1CTD_human
TgeneSLC11A1C0026769Multiple Sclerosis1CTD_human
TgeneSLC11A1C0036202Sarcoidosis1CTD_human
TgeneSLC11A1C0041296Tuberculosis1CTD_human;ORPHANET
TgeneSLC11A1C0086196Eczema, Infantile1CTD_human
TgeneSLC11A1C0087031Juvenile-Onset Still Disease1CTD_human
TgeneSLC11A1C0156147Crohn's disease of large bowel1CTD_human
TgeneSLC11A1C0205734Diabetes, Autoimmune1CTD_human
TgeneSLC11A1C0267380Crohn's disease of the ileum1CTD_human
TgeneSLC11A1C0342302Brittle diabetes1CTD_human
TgeneSLC11A1C0678202Regional enteritis1CTD_human
TgeneSLC11A1C0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneSLC11A1C0949272IIeocolitis1CTD_human
TgeneSLC11A1C1135745Meningitis, Meningococcal, Serogroup A1CTD_human
TgeneSLC11A1C1135746Meningitis, Meningococcal, Serogroup B1CTD_human
TgeneSLC11A1C1135747Meningitis, Meningococcal, Serogroup C1CTD_human
TgeneSLC11A1C1136209Meningitis, Meningococcal, Serogroup Y1CTD_human
TgeneSLC11A1C1136210Meningitis, Meningococcal, Serogroup W-1351CTD_human
TgeneSLC11A1C1565662Acute Kidney Insufficiency1CTD_human
TgeneSLC11A1C2609414Acute kidney injury1CTD_human
TgeneSLC11A1C3495559Juvenile arthritis1CTD_human
TgeneSLC11A1C3714758Juvenile psoriatic arthritis1CTD_human
TgeneSLC11A1C3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneSLC11A1C4505456HIV Coinfection1CTD_human
TgeneSLC11A1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneSLC11A1C4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneSLC11A1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human