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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: 22200

FusionGeneSummary for MMACHC_TTC23L

check button Fusion gene summary
Fusion gene informationFusion gene name: MMACHC_TTC23L
Fusion gene ID: 22200
HgeneTgene
Gene symbol

MMACHC

TTC23L

Gene ID

25974

153657

Gene namemethylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuriatetratricopeptide repeat domain 23 like
SynonymscblCMC25-1
Cytomap

1p34.1

5p13.2

Type of geneprotein-codingprotein-coding
Descriptionmethylmalonic aciduria and homocystinuria type C proteincyanocobalamin reductase (cyanide-eliminating)tetratricopeptide repeat protein 23-like
Modification date2018051920180519
UniProtAcc

Q9Y4U1

Q6PF05

Ensembl transtripts involved in fusion geneENST00000401061, ENST00000477188, 
ENST00000505624, ENST00000514080, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: MMACHC [Title/Abstract] AND TTC23L [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
HgeneMMACHC

GO:0006749

glutathione metabolic process

19801555|22642810

HgeneMMACHC

GO:0009235

cobalamin metabolic process

19700356|22642810

HgeneMMACHC

GO:0009236

cobalamin biosynthetic process

19801555

HgeneMMACHC

GO:0055114

oxidation-reduction process

19801555

HgeneMMACHC

GO:0070988

demethylation

19801555


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
TCGARVACCTCGA-OR-A5LL-01AMMACHCchr1

45966085

+TTC23Lchr5

34896875

+
* 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
Frame-shiftENST00000401061ENST00000505624MMACHCchr1

45966085

+TTC23Lchr5

34896875

+
5CDS-intronENST00000401061ENST00000514080MMACHCchr1

45966085

+TTC23Lchr5

34896875

+
intron-3CDSENST00000477188ENST00000505624MMACHCchr1

45966085

+TTC23Lchr5

34896875

+
intron-intronENST00000477188ENST00000514080MMACHCchr1

45966085

+TTC23Lchr5

34896875

+

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FusionProtFeatures for MMACHC_TTC23L


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

Q9Y4U1

TTC23L

Q6PF05

Catalyzes the reductive dealkylation of cyanocobalaminto cob(II)alamin, using FAD or FMN as cofactor and NADPH ascosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810).Can also catalyze the glutathione-dependent reductivedemethylation of methylcobalamin, and, with much lower efficiency,the glutathione-dependent reductive demethylation ofadenosylcobalamin (PubMed:19801555, PubMed:22642810,PubMed:25809485). Under anaerobic conditions cob(I)alamin is thefirst product; it is highly reactive and is converted toaquocob(II)alamin in the presence of oxygen (PubMed:19801555).Binds cyanocobalamin, adenosylcobalamin, methylcobalamin andother, related vitamin B12 derivatives (PubMed:21071249).{ECO:0000269|PubMed:19700356, ECO:0000269|PubMed:19801555,ECO:0000269|PubMed:21071249, ECO:0000269|PubMed:21697092,ECO:0000269|PubMed:22642810, ECO:0000269|PubMed:25809485}.

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 MMACHC_TTC23L


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 MMACHC_TTC23L


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
MMACHCMMADHC, UBE2L3, SELENBP1, TRIM25TTC23LIQCE, CTAGE5, EXOC5, CBY1, EGLN3, EFCAB7, VASP, CALCOCO2


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 MMACHC_TTC23L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMMACHCQ9Y4U1DB00200HydroxocobalaminMethylmalonic aciduria and homocystinuria type C proteinsmall moleculeapproved
HgeneMMACHCQ9Y4U1DB00115CyanocobalaminMethylmalonic aciduria and homocystinuria type C proteinsmall moleculeapproved|nutraceutical

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RelatedDiseases for MMACHC_TTC23L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMMACHCC1848561Methylmalonic acidemia with homocystinuria2CTD_human;ORPHANET;UNIPROT