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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 34965

FusionGeneSummary for SMPD4_MDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPD4_MDH1
Fusion gene ID: 34965
HgeneTgene
Gene symbol

SMPD4

MDH1

Gene ID

55627

4190

Gene namesphingomyelin phosphodiesterase 4malate dehydrogenase 1
SynonymsNET13|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 date2018051920180523
UniProtAcc

Q9NXE4

P40925

Ensembl transtripts involved in fusion geneENST00000351288, ENST00000453750, 
ENST00000409031, ENST00000431183, 
ENST00000443958, ENST00000339679, 
ENST00000452225, ENST00000426662, 
ENST00000473720, 		ENST00000233114, 
ENST00000409908, ENST00000409476, 
ENST00000539945, ENST00000544381, 
ENST00000394423, ENST00000462944, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 6 X 4=144
# samples 314
** MAII scorelog2(3/4*10)=2.90689059560852log2(14/144*10)=-0.0406419844973459
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AA315813SMPD4chr2

130932487

-MDH1chr2

63821620

+
ChiTaRS3.1AW951984SMPD4chr2

130932487

-MDH1chr2

63821620

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000351288ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000351288ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000351288ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000351288ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000453750ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000453750ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000453750ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000453750ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000409031ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000409031ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000409031ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000409031ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
In-frameENST00000431183ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000431183ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-5UTRENST00000431183ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5CDS-intronENST00000431183ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000443958ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000443958ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000443958ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000443958ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-3CDSENST00000339679ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-5UTRENST00000339679ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-5UTRENST00000339679ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
5UTR-intronENST00000339679ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000452225ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000452225ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000452225ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000452225ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000426662ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000426662ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000426662ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000426662ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-3CDSENST00000473720ENST00000233114SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000409908SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000409476SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000539945SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000473720ENST00000544381SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-5UTRENST00000473720ENST00000394423SMPD4chr2

130932487

-MDH1chr2

63821620

+
intron-intronENST00000473720ENST00000462944SMPD4chr2

130932487

-MDH1chr2

63821620

+

Top

FusionProtFeatures for SMPD4_MDH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMPD4

Q9NXE4

MDH1

P40925


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
TgeneMDH1chr2:130932487chr2:63821620ENST00000233114+0911_171335Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST00000233114+09129_1311335Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST00000394423+0911_171335Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST00000394423+09129_1311335Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST00000539945+09129_13119353Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST00000544381+0811_17-56246Nucleotide bindingNAD
TgeneMDH1chr2:130932487chr2:63821620ENST00000544381+08129_131-56246Nucleotide bindingNAD

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMPD4chr2:130932487chr2:63821620ENST00000431183-317242_26481765Compositional biasPro-rich
HgeneSMPD4chr2:130932487chr2:63821620ENST00000431183-317822_84281765TransmembraneHelical
TgeneMDH1chr2:130932487chr2:63821620ENST00000539945+0911_1719353Nucleotide bindingNAD


Top

FusionGeneSequence for SMPD4_MDH1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_SMPD4_ENST00000351288_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_334aa
SEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMP
RREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNV
IIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGV

>In-frame_SMPD4_ENST00000453750_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_334aa
SEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMP
RREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNV
IIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGV

>In-frame_SMPD4_ENST00000409031_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_334aa
SEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMP
RREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNV
IIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGV

>In-frame_SMPD4_ENST00000431183_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_334aa
SEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMP
RREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNV
IIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SMPD4_ENST00000351288_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_1002nt
TCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGT
AAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCC
CTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCA
AGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAG
AAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAAC
TTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTC
ATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAA
GCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCC
AGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTT
ATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAA
GGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTT

>In-frame_SMPD4_ENST00000453750_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_1002nt
TCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGT
AAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCC
CTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCA
AGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAG
AAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAAC
TTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTC
ATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAA
GCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCC
AGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTT
ATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAA
GGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTT

>In-frame_SMPD4_ENST00000409031_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_1002nt
TCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGT
AAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCC
CTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCA
AGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAG
AAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAAC
TTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTC
ATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAA
GCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCC
AGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTT
ATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAA
GGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTT

>In-frame_SMPD4_ENST00000431183_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_1002nt
TCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGT
AAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCC
CTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCA
AGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAG
AAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAAC
TTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTC
ATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAA
GCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCC
AGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTT
ATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAA
GGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTT


* Fusion transcript sequences (Full-length transcript).
>In-frame_SMPD4_ENST00000351288_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_1455nt
ATGACGACTTTCGGCGCCGTGGCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCC
ATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATA
AATAAGCCCTTTGCACAGCAGTGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGTCTGAACCAATCAGAGTCCTTGTGACT
GGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTG
TTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCA
ACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGAT
TTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGT
AATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCAC
AACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACT
CAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAG
GGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATC
TGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTT
CCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGT
GAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTT
ACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAA
ACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAGTTTATCGTCATGCTGTTAGTGTGCATTCTAAATAAATA

>In-frame_SMPD4_ENST00000453750_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_1455nt
ATGACGACTTTCGGCGCCGTGGCGGAATGGCGGCTTCCATCTCTGAGGCGAGCGACGCTATGGATCCCACAGTGGTTTGCTAAGAAGGCC
ATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGCTAGCCTGAAAGCTGACTCTATA
AATAAGCCCTTTGCACAGCAGTGCCAAGACTTGGTTAAAGTCATTGAGGACTTTCCAGCAAAGTCTGAACCAATCAGAGTCCTTGTGACT
GGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTG
TTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCA
ACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGAT
TTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGT
AATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCAC
AACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACT
CAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAG
GGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATC
TGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTT
CCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGT
GAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTT
ACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAA
ACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAGTTTATCGTCATGCTGTTAGTGTGCATTCTAAATAAATA

>In-frame_SMPD4_ENST00000409031_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_2604nt
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

>In-frame_SMPD4_ENST00000431183_chr2_130932487_-_MDH1_ENST00000233114_chr2_63821620_+_2604nt
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


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FusionGenePPI 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
SMPD4BRF2, CUL2, EXOSC4, EED, NTRK1, TCTN3, EVC2, TMEM17, TMEM216, KPNB1, NUP153, NUP107, TEAD2, FOXA3, FOXB1, FOXE1, FOXG1, FOXH1, FOXI1, FOXI2, FOXL1, FOXL2, CTDNEP1, TRIM25MDH1MPP3, EGFR, TP53, TERF1, TERF2IP, AKT1, LDHA, SDHA, PRDX6, SLC9A3R1, PRDX5, ESD, PGM1, HSP90AA1, HSP90AB1, IQCB1, PARK2, FUS, GLRX, GOT1, HIBADH, LDHAL6A, LDHAL6B, LDHB, LDHC, OXCT1, SOD2, SPR, UQCRFS1, PDXK, PGM2, SCCPDH, NTRK1, HSPB2, MED20, HSD17B10, TRIM25, BRCA1, SERPINB5


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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RelatedDrugs for SMPD4_MDH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMDH1P40925DB11638ArtenimolMalate dehydrogenase, cytoplasmicsmall moleculeapproved|investigational

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RelatedDiseases for SMPD4_MDH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMDH1C0020538Hypertensive disease1CTD_human
TgeneMDH1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMDH1C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneMDH1C0036341Schizophrenia1PSYGENET
TgeneMDH1C4277682Chemical and Drug Induced Liver Injury1CTD_human