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Fusion gene ID: 34780 |
FusionGeneSummary for SMARCA1_CNP |
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Fusion gene information | Fusion gene name: SMARCA1_CNP | Fusion gene ID: 34780 | Hgene | Tgene | Gene symbol | SMARCA1 | CNP | Gene ID | 6594 | 1267 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 | 2',3'-cyclic nucleotide 3' phosphodiesterase | |
Synonyms | ISWI|NURF140|SNF2L|SNF2L1|SNF2LB|SNF2LT|SWI|SWI2|hSNF2L | CNP1 | |
Cytomap | Xq25-q26.1 | 17q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | probable global transcription activator SNF2L1ATP-dependent helicase SMARCA1SNF2-like 1global transcription activator homologous sequencenucleosome-remodeling factor subunit SNF2Lsucrose nonfermenting 2-like protein 1 | 2',3'-cyclic-nucleotide 3'-phosphodiesterase2', 3' cyclic nucleotide 3' phosphohydrolaseCNPase | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P28370 | P09543 | |
Ensembl transtripts involved in fusion gene | ENST00000371121, ENST00000371122, ENST00000371123, ENST00000478420, | ENST00000393892, ENST00000472031, ENST00000591072, ENST00000592446, ENST00000393888, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 5 X 5 X 3=75 |
# samples | 4 | 5 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMARCA1 [Title/Abstract] AND CNP [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 | SMARCA1 | GO:0006338 | chromatin remodeling | 14609955 |
Hgene | SMARCA1 | GO:0043044 | ATP-dependent chromatin remodeling | 15640247 |
![]() (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 | AA719336 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
* 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-3UTR | ENST00000371121 | ENST00000393892 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371121 | ENST00000472031 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371121 | ENST00000591072 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371121 | ENST00000592446 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000371121 | ENST00000393888 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000371122 | ENST00000393892 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371122 | ENST00000472031 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371122 | ENST00000591072 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371122 | ENST00000592446 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000371122 | ENST00000393888 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000371123 | ENST00000393892 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371123 | ENST00000472031 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371123 | ENST00000591072 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000371123 | ENST00000592446 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000371123 | ENST00000393888 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000478420 | ENST00000393892 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000478420 | ENST00000472031 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000478420 | ENST00000591072 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-intron | ENST00000478420 | ENST00000592446 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
intron-3UTR | ENST00000478420 | ENST00000393888 | SMARCA1 | chrX | 128650434 | - | CNP | chr17 | 40126540 | + |
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FusionProtFeatures for SMARCA1_CNP |
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Hgene | Tgene |
SMARCA1 | CNP |
Energy-transducing component of NURF (nucleosome-remodeling factor) and CERF (CECR2-containing-remodeling factor)complexes. Both complexes facilitate the perturbation of chromatinstructure in an ATP-dependent manner. Potentiates neuriteoutgrowth. May be involved in brain development by regulating En-1and En-2 expression. May be involved in the development of lutealcells. {ECO:0000269|PubMed:14609955, ECO:0000269|PubMed:15310751,ECO:0000269|PubMed:15640247, ECO:0000269|PubMed:16740656}. | May participate in RNA metabolism in the myelinatingcell, CNP is the third most abundant protein in central nervoussystem myelin. {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 SMARCA1_CNP |
![]() (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 SMARCA1_CNP |
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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 SMARCA1_CNP |
![]() (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 SMARCA1_CNP |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CNP | C0036341 | Schizophrenia | 5 | PSYGENET |
Tgene | CNP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | CNP | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | CNP | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | CNP | C1269683 | Major Depressive Disorder | 1 | PSYGENET |