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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 41267

FusionGeneSummary for UTRN_MMADHC

check button Fusion gene summary
Fusion gene informationFusion gene name: UTRN_MMADHC
Fusion gene ID: 41267
HgeneTgene
Gene symbol

UTRN

MMADHC

Gene ID

7402

27249

Gene nameutrophinmethylmalonic aciduria and homocystinuria, cblD type
SynonymsDMDL|DRP|DRP1C2orf25|CL25022|cblD
Cytomap

6q24.2

2q23.2

Type of geneprotein-codingprotein-coding
DescriptionutrophinDRP-1dystrophin-related protein 1methylmalonic aciduria and homocystinuria type D protein, mitochondrialmethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuriaprotein C2orf25, mitochondrial
Modification date2018051920180519
UniProtAcc

P46939

Q9H3L0

Ensembl transtripts involved in fusion geneENST00000367545, ENST00000367526, 
ENST00000480333, 		ENST00000303319, 
ENST00000428879, ENST00000422782, 
ENST00000460311, 
Fusion gene scores* DoF score24 X 22 X 7=36961 X 1 X 1=1
# samples 251
** MAII scorelog2(25/3696*10)=-3.88596475675397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: UTRN [Title/Abstract] AND MMADHC [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
TgeneMMADHC

GO:0009235

cobalamin metabolic process

24722857


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
TCGARVPRADTCGA-HC-7232-01AUTRNchr6

144844324

+MMADHCchr2

150443663

-
* 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
5CDS-5UTRENST00000367545ENST00000303319UTRNchr6

144844324

+MMADHCchr2

150443663

-
5CDS-5UTRENST00000367545ENST00000428879UTRNchr6

144844324

+MMADHCchr2

150443663

-
5CDS-5UTRENST00000367545ENST00000422782UTRNchr6

144844324

+MMADHCchr2

150443663

-
5CDS-5UTRENST00000367545ENST00000460311UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000367526ENST00000303319UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000367526ENST00000428879UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000367526ENST00000422782UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000367526ENST00000460311UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000480333ENST00000303319UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000480333ENST00000428879UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000480333ENST00000422782UTRNchr6

144844324

+MMADHCchr2

150443663

-
intron-5UTRENST00000480333ENST00000460311UTRNchr6

144844324

+MMADHCchr2

150443663

-

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FusionProtFeatures for UTRN_MMADHC


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

P46939

MMADHC

Q9H3L0

May play a role in anchoring the cytoskeleton to theplasma membrane. {ECO:0000250}. Involved in cobalamin metabolism (PubMed:18385497,PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a rolein regulating the biosynthesis of two coenzymes, methylcobalaminand adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays arole in regulating the proportion of methylcobalamin andadenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotesoxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).{ECO:0000269|PubMed:18385497, ECO:0000269|PubMed:23415655,ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26364851}.

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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FusionGeneSequence for UTRN_MMADHC


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for UTRN_MMADHC


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
UTRNSNTA1, SNTB2, DAG1, UTRN, DTNA, PGM5, USP21, MARK2, PIK3CG, TERF1, TERF2, MME, DISC1, SIRT7, THOC1, RRP9, THOC2, THOC6, THOC5, UBE2D1, ZC3H15, XPO4, THOC3, UBE3C, PTPN12, NPM1, ADRA1D, LATS2, SAV1, OBSL1, CCDC8, L3HYPDH, IER2, USP7, CALM1, PTEN, MED4, TMEM17, PDK3, PI4KB, TTK, RBM8A, MCM2, ATOH1, CDH1, TENC1, TNS1, TNS3, SNTG2, NDEL1, DMD, CPNE5, FAM167A, RHPN1, PTRF, VHL, CPNE4, TTC30B, FAM189B, PHF19, TESMMADHCMMACHC, C9orf24, FGL1, KIF12, CISD3, AURKAIP1, SFPQ, CCDC69, RASL10B, C1orf94, NDUFS7, MRPS24, SDHB, MKLN1, AAMP, PMFBP1


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 UTRN_MMADHC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneUTRNP46939DB01593ZincUtrophinsmall moleculeapproved|investigational

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RelatedDiseases for UTRN_MMADHC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMMADHCC1848552Methylmalonic Aciduria and Homocystinuria, CblD Type2CTD_human;ORPHANET;UNIPROT