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Fusion gene ID: 4531 |
FusionGeneSummary for BTBD3_FAM221A |
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Fusion gene information | Fusion gene name: BTBD3_FAM221A | Fusion gene ID: 4531 | Hgene | Tgene | Gene symbol | BTBD3 | FAM221A | Gene ID | 22903 | 340277 |
Gene name | BTB domain containing 3 | family with sequence similarity 221 member A | |
Synonyms | dJ742J24.1 | C7orf46 | |
Cytomap | 20p12.2 | 7p15.3 | |
Type of gene | protein-coding | protein-coding | |
Description | BTB/POZ domain-containing protein 3BTB (POZ) domain containing 3 | protein FAM221Auncharacterized protein C7orf46 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9Y2F9 | A4D161 | |
Ensembl transtripts involved in fusion gene | ENST00000254977, ENST00000399006, ENST00000405977, ENST00000378226, ENST00000488503, | ENST00000409192, ENST00000344962, ENST00000409653, ENST00000409994, ENST00000483090, | |
Fusion gene scores | * DoF score | 5 X 2 X 4=40 | 1 X 1 X 1=1 |
# samples | 4 | 1 | |
** MAII score | log2(4/40*10)=0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: BTBD3 [Title/Abstract] AND FAM221A [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 |
![]() (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 | LD | UCEC | TCGA-AJ-A3IA-01A | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
* 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 |
5UTR-3CDS | ENST00000254977 | ENST00000409192 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000254977 | ENST00000344962 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000254977 | ENST00000409653 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000254977 | ENST00000409994 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-intron | ENST00000254977 | ENST00000483090 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000399006 | ENST00000409192 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000399006 | ENST00000344962 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000399006 | ENST00000409653 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000399006 | ENST00000409994 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-intron | ENST00000399006 | ENST00000483090 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000405977 | ENST00000409192 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000405977 | ENST00000344962 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000405977 | ENST00000409653 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-3CDS | ENST00000405977 | ENST00000409994 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
5UTR-intron | ENST00000405977 | ENST00000483090 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000378226 | ENST00000409192 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000378226 | ENST00000344962 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000378226 | ENST00000409653 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000378226 | ENST00000409994 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-intron | ENST00000378226 | ENST00000483090 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000488503 | ENST00000409192 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000488503 | ENST00000344962 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000488503 | ENST00000409653 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-3CDS | ENST00000488503 | ENST00000409994 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
intron-intron | ENST00000488503 | ENST00000483090 | BTBD3 | chr20 | 11871602 | + | FAM221A | chr7 | 23728888 | + |
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FusionProtFeatures for BTBD3_FAM221A |
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Hgene | Tgene |
BTBD3 | FAM221A |
Acts as a key regulator of dendritic field orientationduring development of sensory cortex. Also directs dendritestoward active axon terminals when ectopically expressed (Bysimilarity). {ECO:0000250}. |
![]() * 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 BTBD3_FAM221A |
![]() (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 BTBD3_FAM221A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BTBD3 | PLXNB3, ELAVL1, CLTC, SEC16A, GTSE1, TRIM25 | FAM221A | SNX5, SNX2, SNX6 |
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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 BTBD3_FAM221A |
![]() (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 BTBD3_FAM221A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |