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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: 21742

FusionGeneSummary for MFAP3L_AADAT

check button Fusion gene summary
Fusion gene informationFusion gene name: MFAP3L_AADAT
Fusion gene ID: 21742
HgeneTgene
Gene symbol

MFAP3L

AADAT

Gene ID

9848

51166

Gene namemicrofibril associated protein 3 likeaminoadipate aminotransferase
SynonymsNYD-sp9KAT2|KATII|KYAT2
Cytomap

4q33

4q33

Type of geneprotein-codingprotein-coding
Descriptionmicrofibrillar-associated protein 3-likemicrofi brillar-associated protein 3-likemicrofibrillar associated protein 3 liketestis development protein NYD-SP9kynurenine/alpha-aminoadipate aminotransferase, mitochondrial2-aminoadipate aminotransferase2-aminoadipate transaminaseKAT/AadATL kynurenine/alpha aminoadipate aminotransferasealpha-aminoadipate aminotransferasekynurenine aminotransferase IIkynuren
Modification date2018032920180522
UniProtAcc

O75121

Q8N5Z0

Ensembl transtripts involved in fusion geneENST00000393704, ENST00000361618, 
ENST00000393702, ENST00000506110, 
ENST00000514683, 
ENST00000337664, 
ENST00000509167, ENST00000515480, 
ENST00000353187, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 2 X 2=8
# samples 32
** MAII scorelog2(3/4*10)=2.90689059560852log2(2/8*10)=1.32192809488736
Context

PubMed: MFAP3L [Title/Abstract] AND AADAT [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
TgeneAADAT

GO:0006103

2-oxoglutarate metabolic process

18620547

TgeneAADAT

GO:0006536

glutamate metabolic process

18620547

TgeneAADAT

GO:0070189

kynurenine metabolic process

18620547


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
ChiTaRS3.1CF593501MFAP3Lchr4

170947385

-AADATchr4

171010889

-
* 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
intron-5UTRENST00000393704ENST00000337664MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393704ENST00000509167MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393704ENST00000515480MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393704ENST00000353187MFAP3Lchr4

170947385

-AADATchr4

171010889

-
5UTR-5UTRENST00000361618ENST00000337664MFAP3Lchr4

170947385

-AADATchr4

171010889

-
5UTR-5UTRENST00000361618ENST00000509167MFAP3Lchr4

170947385

-AADATchr4

171010889

-
5UTR-5UTRENST00000361618ENST00000515480MFAP3Lchr4

170947385

-AADATchr4

171010889

-
5UTR-5UTRENST00000361618ENST00000353187MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393702ENST00000337664MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393702ENST00000509167MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393702ENST00000515480MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000393702ENST00000353187MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000506110ENST00000337664MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000506110ENST00000509167MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000506110ENST00000515480MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000506110ENST00000353187MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000514683ENST00000337664MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000514683ENST00000509167MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000514683ENST00000515480MFAP3Lchr4

170947385

-AADATchr4

171010889

-
intron-5UTRENST00000514683ENST00000353187MFAP3Lchr4

170947385

-AADATchr4

171010889

-

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FusionProtFeatures for MFAP3L_AADAT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MFAP3L

O75121

AADAT

Q8N5Z0

May participate in the nuclear signaling of EGFR andMAPK1/ERK2. May a have a role in metastasis.{ECO:0000269|PubMed:24735981}. Transaminase with broad substrate specificity. Hastransaminase activity towards aminoadipate, kynurenine, methionineand glutamate. Shows activity also towards tryptophan, aspartateand hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiolbutyric acid. Can also use glyoxylate as amino-group acceptor (invitro). {ECO:0000269|PubMed:18620547}.

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 MFAP3L_AADAT


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 MFAP3L_AADAT


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
MFAP3LAADATSPACA3


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 MFAP3L_AADAT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAADATQ8N5Z0DB00114Pyridoxal PhosphateKynurenine/alpha-aminoadipate aminotransferase, mitochondrialsmall moleculeapproved|investigational|nutraceutical
TgeneAADATQ8N5Z0DB00142Glutamic AcidKynurenine/alpha-aminoadipate aminotransferase, mitochondrialsmall moleculeapproved|nutraceutical

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RelatedDiseases for MFAP3L_AADAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAADATC0023893Liver Cirrhosis, Experimental1CTD_human