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Fusion gene ID: 23486 |
FusionGeneSummary for NBAS_MLLT3 |
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Fusion gene information | Fusion gene name: NBAS_MLLT3 | Fusion gene ID: 23486 | Hgene | Tgene | Gene symbol | NBAS | MLLT3 | Gene ID | 51594 | 4300 |
Gene name | neuroblastoma amplified sequence | MLLT3, super elongation complex subunit | |
Synonyms | ILFS2|NAG|SOPH | AF9|YEATS3 | |
Cytomap | 2p24.3 | 9p21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | neuroblastoma-amplified sequenceNAG/BC035112 fusionNAG/FAM49A fusionneuroblastoma-amplified gene protein | protein AF-9ALL1-fused gene from chromosome 9 proteinYEATS domain-containing protein 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translo | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | A2RRP1 | P42568 | |
Ensembl transtripts involved in fusion gene | ENST00000441750, ENST00000281513, | ENST00000380338, ENST00000355930, ENST00000429426, ENST00000475957, ENST00000380321, | |
Fusion gene scores | * DoF score | 11 X 10 X 7=770 | 9 X 18 X 8=1296 |
# samples | 12 | 22 | |
** MAII score | log2(12/770*10)=-2.68182403997375 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/1296*10)=-2.55849028935997 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NBAS [Title/Abstract] AND MLLT3 [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 |
Tgene | MLLT3 | GO:0045893 | positive regulation of transcription, DNA-templated | 25417107|27105114 |
Tgene | MLLT3 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 19591803 |
![]() (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 | EF406122 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
* 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-3CDS | ENST00000441750 | ENST00000380338 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000441750 | ENST00000355930 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000441750 | ENST00000429426 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000441750 | ENST00000475957 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000441750 | ENST00000380321 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-3CDS | ENST00000281513 | ENST00000380338 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000281513 | ENST00000355930 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000281513 | ENST00000429426 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000281513 | ENST00000475957 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
intron-5UTR | ENST00000281513 | ENST00000380321 | NBAS | chr2 | 14539776 | + | MLLT3 | chr9 | 20363607 | - |
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FusionProtFeatures for NBAS_MLLT3 |
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Hgene | Tgene |
NBAS | MLLT3 |
Involved in Golgi-to-endoplasmic reticulum (ER)retrograde transport; the function is proposed to depend on itsassociation in the NRZ complex which is believed to play a role inSNARE assembly at the ER (PubMed:19369418).{ECO:0000269|PubMed:19369418, ECO:0000305}. | Chromatin reader component of the super elongationcomplex (SEC), a complex required to increase the catalytic rateof RNA polymerase II transcription by suppressing transientpausing by the polymerase at multiple sites along the DNA(PubMed:20159561, PubMed:20471948, PubMed:25417107,PubMed:27105114, PubMed:27545619). Specifically recognizes andbinds acylated histone H3, with a marked preference for histone H3that is crotonylated (PubMed:25417107, PubMed:27105114,PubMed:27545619). Crotonylation marks active promoters andenhancers and confers resistance to transcriptional repressors(PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizesand binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and withslightly lower affinity histone H3 crotonylated at 'Lys-18'(H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3acetylated at 'Lys-9' (H3K9ac), but with lower affinity thancrotonylated histone H3 (PubMed:25417107, PubMed:27105114). In theSEC complex, MLLT3 is required to recruit the complex tocrotonylated histones (PubMed:27105114, PubMed:27545619).{ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948,ECO:0000269|PubMed:25417107, ECO:0000269|PubMed:27105114,ECO:0000269|PubMed:27545619}. |
![]() * 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 NBAS_MLLT3 |
![]() (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 NBAS_MLLT3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 NBAS_MLLT3 |
![]() (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 NBAS_MLLT3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NBAS | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | NBAS | C3541319 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | 1 | ORPHANET;UNIPROT |
Hgene | NBAS | C3809651 | INFANTILE LIVER FAILURE SYNDROME 2 | 1 | ORPHANET;UNIPROT |
Tgene | MLLT3 | C0005586 | Bipolar Disorder | 1 | PSYGENET |