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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: 3609

FusionGeneSummary for AUH_CPM

check button Fusion gene summary
Fusion gene informationFusion gene name: AUH_CPM
Fusion gene ID: 3609
HgeneTgene
Gene symbol

AUH

CPM

Gene ID

549

1368

Gene nameAU RNA binding methylglutaconyl-CoA hydratasecarboxypeptidase M
Synonyms--
Cytomap

9q22.31

12q15

Type of geneprotein-codingprotein-coding
Descriptionmethylglutaconyl-CoA hydratase, mitochondrial3-methylglutaconyl-CoA hydrataseAU RNA binding protein/enoyl-CoA hydrataseAU RNA-binding protein/enoyl-Coenzyme A hydrataseAU-binding protein/Enoyl-CoA hydrataseAU-specific RNA-binding enoyl-CoA hydratasecarboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase B
Modification date2018052320180523
UniProtAcc

Q13825

P14384

Ensembl transtripts involved in fusion geneENST00000303617, ENST00000375731, 
ENST00000422391, ENST00000478465, 
ENST00000546373, ENST00000551568, 
ENST00000338356, ENST00000549691, 
Fusion gene scores* DoF score1 X 1 X 1=138 X 10 X 8=3040
# samples 135
** MAII scorelog2(1/1*10)=3.32192809488736log2(35/3040*10)=-3.11864449649862
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AUH [Title/Abstract] AND CPM [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

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
TCGARVSARCTCGA-DX-A3M1-01AAUHchr9

94058303

-CPMchr12

69265736

-
* 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-shitENST00000303617ENST00000546373AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000303617ENST00000551568AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000303617ENST00000338356AUHchr9

94058303

-CPMchr12

69265736

-
5CDS-intronENST00000303617ENST00000549691AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000375731ENST00000546373AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000375731ENST00000551568AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000375731ENST00000338356AUHchr9

94058303

-CPMchr12

69265736

-
5CDS-intronENST00000375731ENST00000549691AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000422391ENST00000546373AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000422391ENST00000551568AUHchr9

94058303

-CPMchr12

69265736

-
Frame-shitENST00000422391ENST00000338356AUHchr9

94058303

-CPMchr12

69265736

-
5CDS-intronENST00000422391ENST00000549691AUHchr9

94058303

-CPMchr12

69265736

-
intron-3CDSENST00000478465ENST00000546373AUHchr9

94058303

-CPMchr12

69265736

-
intron-3CDSENST00000478465ENST00000551568AUHchr9

94058303

-CPMchr12

69265736

-
intron-3CDSENST00000478465ENST00000338356AUHchr9

94058303

-CPMchr12

69265736

-
intron-intronENST00000478465ENST00000549691AUHchr9

94058303

-CPMchr12

69265736

-

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FusionProtFeatures for AUH_CPM


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

Q13825

CPM

P14384

Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311,PubMed:12655555). Also has itaconyl-CoA hydratase activity byconverting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxifyitaconate, a vitamin B12-poisoning metabolite (PubMed:29056341).Has very low enoyl-CoA hydratase activity (PubMed:7892223). Wasoriginally identified as RNA-binding protein that binds in vitroto clustered 5'-AUUUA-3' motifs (PubMed:7892223).{ECO:0000269|PubMed:11738050, ECO:0000269|PubMed:12434311,ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:7892223,ECO:0000303|PubMed:29056341}. Specifically removes C-terminal basic residues (Arg orLys) from peptides and proteins. It is believed to play importantroles in the control of peptide hormone and growth factor activityat the cell surface, and in the membrane-localized degradation ofextracellular proteins. {ECO:0000269|PubMed:12457462}.

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 AUH_CPM


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 AUH_CPM


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
AUHAUH, ECHDC2, OXLD1, ATP5D, MRPL21, BPNT1, FAM107ACPMELAVL1, CAPZA2, DBN1, FLNA, GAK, MYH9, PPP1CC, RAB7A, PDLIM7, ATP6AP2, SYNPO, MAPRE1, GOLT1B, LIMA1, ANLN, MYO19, ZSCAN12, ULBP1, FTH1, TBC1D22B, GTPBP3


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 AUH_CPM


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

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RelatedDiseases for AUH_CPM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAUHC03427273-@METHYLGLUTACONIC ACIDURIA, TYPE I1CTD_human;ORPHANET;UNIPROT
TgeneCPMC0014175Endometriosis1CTD_human
TgeneCPMC0037116Silicosis1CTD_human