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Fusion gene ID: 20713 |
FusionGeneSummary for MAML3_FAM171A2 |
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Fusion gene information | Fusion gene name: MAML3_FAM171A2 | Fusion gene ID: 20713 | Hgene | Tgene | Gene symbol | MAML3 | FAM171A2 | Gene ID | 55534 | 284069 |
Gene name | mastermind like transcriptional coactivator 3 | family with sequence similarity 171 member A2 | |
Synonyms | CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3 | - | |
Cytomap | 4q31.1 | 17q21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | mastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3 | protein FAM171A2 | |
Modification date | 20180524 | 20180519 | |
UniProtAcc | Q96JK9 | A8MVW0 | |
Ensembl transtripts involved in fusion gene | ENST00000509479, ENST00000327122, ENST00000398940, | ENST00000293443, | |
Fusion gene scores | * DoF score | 14 X 7 X 6=588 | 1 X 1 X 1=1 |
# samples | 14 | 1 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MAML3 | GO:0007219 | Notch signaling pathway | 12370315 |
Hgene | MAML3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
![]() (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 |
TCGA | RV | PCPG | TCGA-WB-A80K-01A | MAML3 | chr4 | 141074014 | - | FAM171A2 | chr17 | 42433956 | - |
* 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 |
Frame-shift | ENST00000509479 | ENST00000293443 | MAML3 | chr4 | 141074014 | - | FAM171A2 | chr17 | 42433956 | - |
intron-3CDS | ENST00000327122 | ENST00000293443 | MAML3 | chr4 | 141074014 | - | FAM171A2 | chr17 | 42433956 | - |
intron-3CDS | ENST00000398940 | ENST00000293443 | MAML3 | chr4 | 141074014 | - | FAM171A2 | chr17 | 42433956 | - |
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FusionProtFeatures for MAML3_FAM171A2 |
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Hgene | Tgene |
MAML3 | FAM171A2 |
Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}. |
![]() * 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 |
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FusionGeneSequence for MAML3_FAM171A2 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MAML3 | MAML1, NOTCH1, NFX1, SUPT5H, RAI1, ZBTB1, SCMH1, ZZZ3, RBPJ | FAM171A2 | CAMK2B, PSMA3, EFNB2, SPACA1, TGFBR2, BTN2A1, GNAZ, TMEM17, PTPRF, PCDHGB1, FAM171B, P4HA3, NCR3LG1, TMEM30B, JPH4, BTNL3, KLRG2, PCDHGB4, SLC39A5, GJB7, LILRB3, NTRK3, IDO2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAML3_FAM171A2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAML3_FAM171A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MAML3 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | MAML3 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
Hgene | MAML3 | C1261473 | Sarcoma | 1 | CTD_human |
Hgene | MAML3 | C1710096 | Sinonasal undifferentiated carcinoma | 1 | CTD_human |