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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MRPL44-ABCG1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MRPL44-ABCG1
FusionPDB ID: 55055
FusionGDB2.0 ID: 55055
HgeneTgene
Gene symbol

MRPL44

ABCG1

Gene ID

65080

9619

Gene namemitochondrial ribosomal protein L44ATP binding cassette subfamily G member 1
SynonymsCOXPD16|L44MT|MRP-L44ABC8|WHITE1
Cytomap

2q36.1

21q22.3

Type of geneprotein-codingprotein-coding
Description39S ribosomal protein L44, mitochondrialmitochondrial large ribosomal subunit protein mL44ATP-binding cassette sub-family G member 1ABC transporter 8ATP-binding cassette transporter 8ATP-binding cassette transporter member 1 of subfamily GATP-binding cassette, sub-family G (WHITE), member 1homolog of Drosophila whitewhite protein homolog
Modification date2020031320200329
UniProtAcc

Q9H9J2

P45844

Ensembl transtripts involved in fusion geneENST idsENST00000258383, ENST00000343687, 
ENST00000347800, ENST00000361802, 
ENST00000398449, ENST00000462050, 
ENST00000340588, ENST00000398437, 
ENST00000398457, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=89 X 5 X 8=360
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MRPL44 [Title/Abstract] AND ABCG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MRPL44(224824719)-ABCG1(43645781), # samples:1
Anticipated loss of major functional domain due to fusion event.MRPL44-ABCG1 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.
MRPL44-ABCG1 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.
MRPL44-ABCG1 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.
MRPL44-ABCG1 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
TgeneABCG1

GO:0008203

cholesterol metabolic process

15994327

TgeneABCG1

GO:0033344

cholesterol efflux

15994327

TgeneABCG1

GO:0033993

response to lipid

16556852

TgeneABCG1

GO:0034436

glycoprotein transport

17293612

TgeneABCG1

GO:0042632

cholesterol homeostasis

15994327

TgeneABCG1

GO:0042987

amyloid precursor protein catabolic process

17293612

TgeneABCG1

GO:0050714

positive regulation of protein secretion

17293612

TgeneABCG1

GO:1902004

positive regulation of amyloid-beta formation

17293612


check buttonFusion gene breakpoints across MRPL44 (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 ABCG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4PRADTCGA-WW-A8ZI-01AMRPL44chr2

224824719

-ABCG1chr21

43645781

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000258383MRPL44chr2224824719-ENST00000398457ABCG1chr2143645781+3528717692675868

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
ENST00000258383ENST00000398457MRPL44chr2224824719-ABCG1chr2143645781+0.0012420360.99875796

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>55055_55055_1_MRPL44-ABCG1_MRPL44_chr2_224824719_ENST00000258383_ABCG1_chr21_43645781_ENST00000398457_length(amino acids)=868AA_BP=216
MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKELERQRLLRCPPPPVRRSEKPNWDYHAEIQAFGHRLQENFSLDLLKT
AFVNSCYIKSEEAKRQQLGIEKEAVLLNLKSNQELSEQGTSFSQTCLTQFLEDEYPDMPTEGIKNLVDFLTGEEVVCHVARNLAVEQLTL
SEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRNASSYSAEMTEPKSVCVSVDEVVSSNMEATETDLLNGHLKKVDNNLTEAQRFSS
LPRRAAVNIEFRDLSYSVPEGPWWRKKGYKTLLKGISGKFNSGELVAIMGPSGAGKSTLMNILAGYRETGMKGAVLINGLPRDLRCFRKV
SCYIMQDDMLLPHLTVQEAMMVSAHLKLQEKDEGRREMVKEILTALGLLSCANTRTGSLSGGQRKRLAIALELVNNPPVMFFDEPTSGLD
SASCFQVVSLMKGLAQGGRSIICTIHQPSAKLFELFDQLYVLSQGQCVYRGKVCNLVPYLRDLGLNCPTYHNPADFVMEVASGEYGDQNS
RLVRAVREGMCDSDHKRDLGGDAEVNPFLWHRPSEEDSSSMEGCHSFSASCLTQFCILFKRTFLSIMRDSVLTHLRITSHIGIGLLIGLL
YLGIGNEAKKVLSNSGFLFFSMLFLMFAALMPTVLTFPLEMGVFLREHLNYWYSLKAYYLAKTMADVPFQIMFPVAYCSIVYWMTSQPSD
AVRFVLFAALGTMTSLVAQSLGLLIGAASTSLQVATFVGPVTAIPVLLFSGFFVSFDTIPTYLQWMSYISYVRYGFEGVILSIYGLDRED

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

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Fusion Protein Functional Features


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/chr2:224824719/chr21:43645781)
- 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
MRPL44

Q9H9J2

ABCG1

P45844

FUNCTION: Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome. {ECO:0000269|PubMed:23315540}.FUNCTION: Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrlysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620). {ECO:0000269|PubMed:16702602, ECO:0000269|PubMed:17408620, ECO:0000269|PubMed:24576892}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015415_67325.0678.0DomainNote=ABC transmembrane type-2
TgeneABCG1chr2:224824719chr21:43645781ENST0000034368701577_31725.0678.0DomainABC transporter
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015415_67311.0664.0DomainNote=ABC transmembrane type-2
TgeneABCG1chr2:224824719chr21:43645781ENST0000034780001577_31711.0664.0DomainABC transporter
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015415_67314.0679.0DomainNote=ABC transmembrane type-2
TgeneABCG1chr2:224824719chr21:43645781ENST0000036180201577_31714.0679.0DomainABC transporter
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015415_67314.0667.0DomainNote=ABC transmembrane type-2
TgeneABCG1chr2:224824719chr21:43645781ENST0000039844901577_31714.0667.0DomainABC transporter
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116415_67316.0669.0DomainNote=ABC transmembrane type-2
TgeneABCG1chr2:224824719chr21:43645781ENST0000039845711677_31716.0669.0DomainABC transporter
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015118_12525.0678.0Nucleotide bindingATP
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015118_12511.0664.0Nucleotide bindingATP
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015118_12514.0679.0Nucleotide bindingATP
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015118_12514.0667.0Nucleotide bindingATP
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116118_12516.0669.0Nucleotide bindingATP
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015446_45625.0678.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015478_50625.0678.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015526_53325.0678.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015556_56725.0678.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015587_64925.0678.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015670_67825.0678.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015446_45611.0664.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015478_50611.0664.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015526_53311.0664.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015556_56711.0664.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015587_64911.0664.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015670_67811.0664.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015446_45614.0679.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015478_50614.0679.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015526_53314.0679.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015556_56714.0679.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015587_64914.0679.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015670_67814.0679.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015446_45614.0667.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015478_50614.0667.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015526_53314.0667.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015556_56714.0667.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015587_64914.0667.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015670_67814.0667.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116446_45616.0669.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116478_50616.0669.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116526_53316.0669.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116556_56716.0669.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116587_64916.0669.0Topological domainExtracellular
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116670_67816.0669.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015427_44525.0678.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015457_47725.0678.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015507_52525.0678.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015534_55525.0678.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015568_58625.0678.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000343687015650_66925.0678.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015427_44511.0664.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015457_47711.0664.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015507_52511.0664.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015534_55511.0664.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015568_58611.0664.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000347800015650_66911.0664.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015427_44514.0679.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015457_47714.0679.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015507_52514.0679.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015534_55514.0679.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015568_58614.0679.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000361802015650_66914.0679.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015427_44514.0667.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015457_47714.0667.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015507_52514.0667.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015534_55514.0667.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015568_58614.0667.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398449015650_66914.0667.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116427_44516.0669.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116457_47716.0669.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116507_52516.0669.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116534_55516.0669.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116568_58616.0669.0TransmembraneHelical
TgeneABCG1chr2:224824719chr21:43645781ENST00000398457116650_66916.0669.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMRPL44chr2:224824719chr21:43645781ENST00000258383-24236_306216.0333.0DomainDRBM
HgeneMRPL44chr2:224824719chr21:43645781ENST00000258383-2486_228216.0333.0DomainNote=RNase III
TgeneABCG1chr2:224824719chr21:43645781ENST000003436870151_42625.0678.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST000003478000151_42611.0664.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST000003618020151_42614.0679.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST000003984490151_42614.0667.0Topological domainCytoplasmic
TgeneABCG1chr2:224824719chr21:43645781ENST000003984571161_42616.0669.0Topological domainCytoplasmic


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MRPL44
ABCG1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MRPL44-ABCG1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MRPL44-ABCG1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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