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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: 20713

FusionGeneSummary for MAML3_FAM171A2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAML3_FAM171A2
Fusion gene ID: 20713
HgeneTgene
Gene symbol

MAML3

FAM171A2

Gene ID

55534

284069

Gene namemastermind like transcriptional coactivator 3family with sequence similarity 171 member A2
SynonymsCAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3-
Cytomap

4q31.1

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionmastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3protein FAM171A2
Modification date2018052420180519
UniProtAcc

Q96JK9

A8MVW0

Ensembl transtripts involved in fusion geneENST00000509479, ENST00000327122, 
ENST00000398940, 
ENST00000293443, 
Fusion gene scores* DoF score14 X 7 X 6=5881 X 1 X 1=1
# samples 141
** MAII scorelog2(14/588*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MAML3 [Title/Abstract] AND FAM171A2 [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
HgeneMAML3

GO:0007219

Notch signaling pathway

12370315

HgeneMAML3

GO:0045944

positive regulation of transcription by RNA polymerase II

12370315


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
TCGARVPCPGTCGA-WB-A80K-01AMAML3chr4

141074014

-FAM171A2chr17

42433956

-
* 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-shiftENST00000509479ENST00000293443MAML3chr4

141074014

-FAM171A2chr17

42433956

-
intron-3CDSENST00000327122ENST00000293443MAML3chr4

141074014

-FAM171A2chr17

42433956

-
intron-3CDSENST00000398940ENST00000293443MAML3chr4

141074014

-FAM171A2chr17

42433956

-

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FusionProtFeatures for MAML3_FAM171A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAML3

Q96JK9

FAM171A2

A8MVW0

Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.

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 MAML3_FAM171A2


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 MAML3_FAM171A2


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
MAML3MAML1, NOTCH1, NFX1, SUPT5H, RAI1, ZBTB1, SCMH1, ZZZ3, RBPJFAM171A2CAMK2B, PSMA3, EFNB2, SPACA1, TGFBR2, BTN2A1, GNAZ, TMEM17, PTPRF, PCDHGB1, FAM171B, P4HA3, NCR3LG1, TMEM30B, JPH4, BTNL3, KLRG2, PCDHGB4, SLC39A5, GJB7, LILRB3, NTRK3, IDO2


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 MAML3_FAM171A2


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 MAML3_FAM171A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAML3C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneMAML3C0018798Congenital Heart Defects1CTD_human
HgeneMAML3C1261473Sarcoma1CTD_human
HgeneMAML3C1710096Sinonasal undifferentiated carcinoma1CTD_human