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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:SMPD4-MDH1 (FusionGDB2 ID:84253)

Fusion Gene Summary for SMPD4-MDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPD4-MDH1
Fusion gene ID: 84253
HgeneTgene
Gene symbol

SMPD4

MDH1

Gene ID

55627

4190

Gene namesphingomyelin phosphodiesterase 4malate dehydrogenase 1
SynonymsNEDMABA|NEDMEBA|NET13|NSMASE-3|NSMASE3|SKNYHEL-S-32|MDH-s|MDHA|MGC:1375|MOR2
Cytomap

2q21.1

2p15

Type of geneprotein-codingprotein-coding
Descriptionsphingomyelin phosphodiesterase 4neutral sphingomyelinase 3neutral sphingomyelinase IIIsphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)malate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenase
Modification date2020032720200313
UniProtAcc.

P40925

Ensembl transtripts involved in fusion geneENST00000351288, ENST00000409031, 
ENST00000431183, ENST00000453750, 
ENST00000339679, ENST00000426662, 
ENST00000443958, ENST00000452225, 
ENST00000473720, 
ENST00000394423, 
ENST00000544381, ENST00000409476, 
ENST00000409908, ENST00000462944, 
ENST00000539945, ENST00000233114, 
Fusion gene scores* DoF score6 X 6 X 3=1086 X 8 X 4=192
# samples 69
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMPD4 [Title/Abstract] AND MDH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMPD4(130932487)-MDH1(63821620), # samples:3
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
HgeneSMPD4

GO:0006685

sphingomyelin catabolic process

16517606

HgeneSMPD4

GO:0046475

glycerophospholipid catabolic process

16517606

HgeneSMPD4

GO:0046513

ceramide biosynthetic process

16517606

HgeneSMPD4

GO:0071356

cellular response to tumor necrosis factor

16517606


check buttonFusion gene breakpoints across SMPD4 (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 MDH1 (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 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/AAA315813SMPD4chr2

130932487

-MDH1chr2

63821620

+
ChiTaRS5.0N/AAW951984SMPD4chr2

130932487

-MDH1chr2

63821620

+
ChiTaRS5.0N/ABD311065SMPD4chr2

130932487

-MDH1chr2

63821620

+


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Fusion Gene ORF analysis for SMPD4-MDH1

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-5UTRENST00000351288ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000351288ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000409031ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000409031ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000431183ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000431183ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000453750ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000453750ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-3CDSENST00000339679ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-5UTRENST00000339679ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-5UTRENST00000339679ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000351288ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000409031ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000431183ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000453750ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000426662ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000443958ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000452225ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000473720ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000426662ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000426662ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000443958ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000443958ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000452225ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000452225ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000473720ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000473720ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+

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)
ENST00000351288SMPD4chr2130932487-ENST00000233114MDH1chr263821620+145524301244414
ENST00000453750SMPD4chr2130932487-ENST00000233114MDH1chr263821620+145524301244414
ENST00000409031SMPD4chr2130932487-ENST00000233114MDH1chr263821620+2604139211462393415
ENST00000431183SMPD4chr2130932487-ENST00000233114MDH1chr263821620+2604139211462393415

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
ENST00000351288ENST00000233114SMPD4chr2130932487-MDH1chr263821620+0.0005306340.99946934
ENST00000453750ENST00000233114SMPD4chr2130932487-MDH1chr263821620+0.0005306340.99946934
ENST00000409031ENST00000233114SMPD4chr2130932487-MDH1chr263821620+0.0017454740.9982545
ENST00000431183ENST00000233114SMPD4chr2130932487-MDH1chr263821620+0.0017454740.9982545

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Fusion Genomic Features for SMPD4-MDH1


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)
SMPD4chr2130932486-MDH1chr263821621+1.59E-060.99999845
SMPD4chr2130932486-MDH1chr263821621+1.59E-060.99999845

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 SMPD4-MDH1


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/chr2:130932487/chr2:63821620)
- 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
.MDH1

P40925

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: Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237). {ECO:0000269|PubMed:3052244, ECO:0000269|PubMed:31538237}.

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
TgeneMDH1chr2:130932487chr2:63821620ENST000002331140911_171335.0Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST0000023311409129_1311335.0Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST000003944230911_171335.0Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST0000039442309129_1311335.0Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST0000053994509129_13119353.0Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST000005443810811_170246.0Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST0000054438108129_1310246.0Nucleotide bindingNAD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMPD4chr2:130932487chr2:63821620ENST00000431183-317242_26481765.0Compositional biasPro-rich
HgeneSMPD4chr2:130932487chr2:63821620ENST00000431183-317822_84281765.0TransmembraneHelical
TgeneMDH1chr2:130932487chr2:63821620ENST000005399450911_1719353.0Nucleotide bindingNAD


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Fusion Gene Sequence for SMPD4-MDH1


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.
>84253_84253_1_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000351288_MDH1_chr2_63821620_ENST00000233114_length(transcript)=1455nt_BP=243nt
ATGACGACTTTCGGCGCCGTGGCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCC
ATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATA
AATAAGCCCTTTGCACAGCAGTGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGTCTGAACCAATCAGAGTCCTTGTGACT
GGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTG
TTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCA
ACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGAT
TTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGT
AATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCAC
AACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACT
CAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAG
GGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATC
TGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTT
CCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGT
GAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTT
ACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAA
ACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAGTTTATCGTCATGCTGTTAGTGTGCATTCTAAATAAATA

>84253_84253_1_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000351288_MDH1_chr2_63821620_ENST00000233114_length(amino acids)=414AA_BP=81
MTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVIEDFPAKSEPIRVLVT
GAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERKD
LLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSST
QYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGV

--------------------------------------------------------------
>84253_84253_2_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000409031_MDH1_chr2_63821620_ENST00000233114_length(transcript)=2604nt_BP=1392nt
GGGCAGAGACACGGCCGCAGGGTCCTGGGGCTCGCTCGCTAGCCTCTGCCCGGCACACATGGACTTGAGCATCTGGAAGACGGCGAGGGG
GGCCACGTTCAGCTTCAGCAGGTCCACCAGGATCCTGGCGGGGACAGACGCGGGGCCGGTGAGCCCTCTCCGCCCGGCGCGGCCACCTCC
CTGAAGACCCGACAAGGACGGGGGCGGGGGCTCCTCCCGACCAGCGGGCCGGGCGTACCCGGAAAGCAGAGGTCGGGGGGTGTCTGGCTA
GCATGCGGCCCCCACCCGCCCCGCTCACTTGAACACGTCGGGGTCGATAGCGCCGCCCGCCGCCTGCGCCAGCTCGTACAGCTCCATCTC
CTCGGTGCTCAGCACCTTCTTCCGCCGCAGCGCCAGCTTCTGCCGGGCCGCCTCCAGCCCCGGGGGCGCCGCCGACCCCGGCCCAGGCCC
TACGCCCTGCGCCGCCATCCCCGCGGCCCGCGGAAAGGTGCGCTCCGCCCCGCCGCGCCCCCTAGCGGCTGCGCCCACCACCCTCTCCCT
GCAGCGTCAACGTCTGGCCTCCCGGGCTGCCCTGGCGGGAGGGGCGGGAGCGCGGGGACGGGGCCGCCTCCGCGGCGTCATTGAAGCCCA
ACAGTTATTGGGCGCTCACGGTGTGCTGAGCGGCGCTCTAGGAGCCGGGAGTGGCATGGCGGACCGCAGGGGTCCGCTGCTTGGCGATCT
GGGCCTCCCTGATAGACTGCATTGGTCGTGCTCGCTTAGGTGGCAGCACCCAGCCCAGTGCCAGGCATACATTGGGCGCTCGGTAAATGC
CTCTTTCAAGAAAGCGTGCAATTTTCTGGTCCGCACCGGTGCACCACTAGGGGTCGCTTTTCGGGGCGGGCGGGGGGAAGGGGGGGGCAC
TAATCAACAATACTGCTTACGCGCACGCGGATTCCTTGCTGGGGAGAAAGTACCTTGGGGCGCCGGAGGCCGCCACAACGCAGGCGCATT
CAGCTAAGGACCACTCCCTCCCCCGCACTCCTGCCTCGCCATTTCTCTTCCCCGCCCGGCCGGCCTTCGCTTTGCGCACGCGCCTTTTGA
GGTAACGGCCCAAAGAGGTGGAAGCGCTTTTCCCGCCCGGCCGCGGGGCGTGGCTCTGCGCGCAGCTTGATGACGACTTTCGGCGCCGTG
GCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAG
GCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATAAATAAGCCCTTTGCACAGCAG
TGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCA
TATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATG
GGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCC
TTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAA
ATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGC
CTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATT
GCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCAT
GCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTG
CAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATC
TGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCA
TTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCA
AAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTTACTAAATGCTTCAAAGCTGAA
GAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAAACAACACATTTTAAAGATTAC

>84253_84253_2_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000409031_MDH1_chr2_63821620_ENST00000233114_length(amino acids)=415AA_BP=82
MMTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVIEDFPAKSEPIRVLV
TGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERK
DLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSS
TQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYG

--------------------------------------------------------------
>84253_84253_3_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000431183_MDH1_chr2_63821620_ENST00000233114_length(transcript)=2604nt_BP=1392nt
GGGCAGAGACACGGCCGCAGGGTCCTGGGGCTCGCTCGCTAGCCTCTGCCCGGCACACATGGACTTGAGCATCTGGAAGACGGCGAGGGG
GGCCACGTTCAGCTTCAGCAGGTCCACCAGGATCCTGGCGGGGACAGACGCGGGGCCGGTGAGCCCTCTCCGCCCGGCGCGGCCACCTCC
CTGAAGACCCGACAAGGACGGGGGCGGGGGCTCCTCCCGACCAGCGGGCCGGGCGTACCCGGAAAGCAGAGGTCGGGGGGTGTCTGGCTA
GCATGCGGCCCCCACCCGCCCCGCTCACTTGAACACGTCGGGGTCGATAGCGCCGCCCGCCGCCTGCGCCAGCTCGTACAGCTCCATCTC
CTCGGTGCTCAGCACCTTCTTCCGCCGCAGCGCCAGCTTCTGCCGGGCCGCCTCCAGCCCCGGGGGCGCCGCCGACCCCGGCCCAGGCCC
TACGCCCTGCGCCGCCATCCCCGCGGCCCGCGGAAAGGTGCGCTCCGCCCCGCCGCGCCCCCTAGCGGCTGCGCCCACCACCCTCTCCCT
GCAGCGTCAACGTCTGGCCTCCCGGGCTGCCCTGGCGGGAGGGGCGGGAGCGCGGGGACGGGGCCGCCTCCGCGGCGTCATTGAAGCCCA
ACAGTTATTGGGCGCTCACGGTGTGCTGAGCGGCGCTCTAGGAGCCGGGAGTGGCATGGCGGACCGCAGGGGTCCGCTGCTTGGCGATCT
GGGCCTCCCTGATAGACTGCATTGGTCGTGCTCGCTTAGGTGGCAGCACCCAGCCCAGTGCCAGGCATACATTGGGCGCTCGGTAAATGC
CTCTTTCAAGAAAGCGTGCAATTTTCTGGTCCGCACCGGTGCACCACTAGGGGTCGCTTTTCGGGGCGGGCGGGGGGAAGGGGGGGGCAC
TAATCAACAATACTGCTTACGCGCACGCGGATTCCTTGCTGGGGAGAAAGTACCTTGGGGCGCCGGAGGCCGCCACAACGCAGGCGCATT
CAGCTAAGGACCACTCCCTCCCCCGCACTCCTGCCTCGCCATTTCTCTTCCCCGCCCGGCCGGCCTTCGCTTTGCGCACGCGCCTTTTGA
GGTAACGGCCCAAAGAGGTGGAAGCGCTTTTCCCGCCCGGCCGCGGGGCGTGGCTCTGCGCGCAGCTTGATGACGACTTTCGGCGCCGTG
GCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAG
GCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATAAATAAGCCCTTTGCACAGCAG
TGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCA
TATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATG
GGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCC
TTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAA
ATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGC
CTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATT
GCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCAT
GCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTG
CAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATC
TGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCA
TTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCA
AAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTTACTAAATGCTTCAAAGCTGAA
GAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAAACAACACATTTTAAAGATTAC

>84253_84253_3_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000431183_MDH1_chr2_63821620_ENST00000233114_length(amino acids)=415AA_BP=82
MMTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVIEDFPAKSEPIRVLV
TGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERK
DLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSS
TQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYG

--------------------------------------------------------------
>84253_84253_4_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000453750_MDH1_chr2_63821620_ENST00000233114_length(transcript)=1455nt_BP=243nt
ATGACGACTTTCGGCGCCGTGGCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCC
ATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATA
AATAAGCCCTTTGCACAGCAGTGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGTCTGAACCAATCAGAGTCCTTGTGACT
GGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTG
TTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCA
ACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGAT
TTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGT
AATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCAC
AACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACT
CAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAG
GGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATC
TGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTT
CCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGT
GAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTT
ACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAA
ACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAGTTTATCGTCATGCTGTTAGTGTGCATTCTAAATAAATA

>84253_84253_4_SMPD4-MDH1_SMPD4_chr2_130932487_ENST00000453750_MDH1_chr2_63821620_ENST00000233114_length(amino acids)=414AA_BP=81
MTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVIEDFPAKSEPIRVLVT
GAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERKD
LLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSST
QYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGV

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

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Fusion Gene PPI Analysis for SMPD4-MDH1


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 SMPD4-MDH1


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 SMPD4-MDH1


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