![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 21742 |
FusionGeneSummary for MFAP3L_AADAT |
![]() |
Fusion gene information | Fusion gene name: MFAP3L_AADAT | Fusion gene ID: 21742 | Hgene | Tgene | Gene symbol | MFAP3L | AADAT | Gene ID | 9848 | 51166 |
Gene name | microfibril associated protein 3 like | aminoadipate aminotransferase | |
Synonyms | NYD-sp9 | KAT2|KATII|KYAT2 | |
Cytomap | 4q33 | 4q33 | |
Type of gene | protein-coding | protein-coding | |
Description | microfibrillar-associated protein 3-likemicrofi brillar-associated protein 3-likemicrofibrillar associated protein 3 liketestis development protein NYD-SP9 | kynurenine/alpha-aminoadipate aminotransferase, mitochondrial2-aminoadipate aminotransferase2-aminoadipate transaminaseKAT/AadATL kynurenine/alpha aminoadipate aminotransferasealpha-aminoadipate aminotransferasekynurenine aminotransferase IIkynuren | |
Modification date | 20180329 | 20180522 | |
UniProtAcc | O75121 | Q8N5Z0 | |
Ensembl transtripts involved in fusion gene | ENST00000393704, ENST00000361618, ENST00000393702, ENST00000506110, ENST00000514683, | ENST00000337664, ENST00000509167, ENST00000515480, ENST00000353187, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
# samples | 3 | 2 | |
** MAII score | log2(3/4*10)=2.90689059560852 | log2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | AADAT | GO:0006103 | 2-oxoglutarate metabolic process | 18620547 |
Tgene | AADAT | GO:0006536 | glutamate metabolic process | 18620547 |
Tgene | AADAT | GO:0070189 | kynurenine metabolic process | 18620547 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | CF593501 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000393704 | ENST00000337664 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393704 | ENST00000509167 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393704 | ENST00000515480 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393704 | ENST00000353187 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
5UTR-5UTR | ENST00000361618 | ENST00000337664 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
5UTR-5UTR | ENST00000361618 | ENST00000509167 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
5UTR-5UTR | ENST00000361618 | ENST00000515480 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
5UTR-5UTR | ENST00000361618 | ENST00000353187 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393702 | ENST00000337664 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393702 | ENST00000509167 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393702 | ENST00000515480 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000393702 | ENST00000353187 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000506110 | ENST00000337664 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000506110 | ENST00000509167 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000506110 | ENST00000515480 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000506110 | ENST00000353187 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000514683 | ENST00000337664 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000514683 | ENST00000509167 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000514683 | ENST00000515480 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
intron-5UTR | ENST00000514683 | ENST00000353187 | MFAP3L | chr4 | 170947385 | - | AADAT | chr4 | 171010889 | - |
Top |
FusionProtFeatures for MFAP3L_AADAT |
![]() |
Hgene | Tgene |
MFAP3L | AADAT |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for MFAP3L_AADAT |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for MFAP3L_AADAT |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MFAP3L | AADAT | SPACA3 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for MFAP3L_AADAT |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | AADAT | Q8N5Z0 | DB00114 | Pyridoxal Phosphate | Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial | small molecule | approved|investigational|nutraceutical |
Tgene | AADAT | Q8N5Z0 | DB00142 | Glutamic Acid | Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial | small molecule | approved|nutraceutical |
Top |
RelatedDiseases for MFAP3L_AADAT |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | AADAT | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |