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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BRCA1-NF1 (FusionGDB2 ID:HG672TG4763) |
Fusion Gene Summary for BRCA1-NF1 |
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Fusion gene information | Fusion gene name: BRCA1-NF1 | Fusion gene ID: hg672tg4763 | Hgene | Tgene | Gene symbol | BRCA1 | NF1 | Gene ID | 672 | 4763 |
Gene name | BRCA1 DNA repair associated | neurofibromin 1 | |
Synonyms | BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 | NFNS|VRNF|WSS | |
Cytomap | ('BRCA1')('NF1') 17q21.31 | 17q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | breast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | |
Modification date | 20200329 | 20200322 | |
UniProtAcc | . | P21359 | |
Ensembl transtripts involved in fusion gene | ENST00000309486, ENST00000346315, ENST00000351666, ENST00000352993, ENST00000354071, ENST00000357654, ENST00000468300, ENST00000471181, ENST00000491747, ENST00000493795, ENST00000586385, ENST00000591534, ENST00000591849, | ENST00000309486, ENST00000346315, ENST00000351666, ENST00000357654, ENST00000352993, ENST00000354071, ENST00000468300, ENST00000471181, ENST00000491747, ENST00000493795, ENST00000586385, ENST00000591534, ENST00000591849, | |
Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 28 X 30 X 15=12600 |
# samples | 9 | 33 | |
** MAII score | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(33/12600*10)=-5.25481389902883 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BRCA1 [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BRCA1(41199660)-NF1(29654517), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. BRCA1-NF1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. BRCA1-NF1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. NF1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. NF1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* 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 | BRCA1 | GO:0000724 | double-strand break repair via homologous recombination | 17349954 |
Hgene | BRCA1 | GO:0006301 | postreplication repair | 17349954 |
Hgene | BRCA1 | GO:0006302 | double-strand break repair | 22186889 |
Hgene | BRCA1 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 14654789 |
Hgene | BRCA1 | GO:0016567 | protein ubiquitination | 17349954 |
Hgene | BRCA1 | GO:0031398 | positive regulation of protein ubiquitination | 15965487 |
Hgene | BRCA1 | GO:0035066 | positive regulation of histone acetylation | 20820192 |
Hgene | BRCA1 | GO:0043627 | response to estrogen | 8895509 |
Hgene | BRCA1 | GO:0045892 | negative regulation of transcription, DNA-templated | 16288014 |
Hgene | BRCA1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20160719 |
Hgene | BRCA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16331276 |
Hgene | BRCA1 | GO:0051571 | positive regulation of histone H3-K4 methylation | 20820192 |
Hgene | BRCA1 | GO:0051573 | negative regulation of histone H3-K9 methylation | 20820192 |
Hgene | BRCA1 | GO:0051865 | protein autoubiquitination | 12890688|20351172 |
Hgene | BRCA1 | GO:0070512 | positive regulation of histone H4-K20 methylation | 20820192 |
Hgene | BRCA1 | GO:0071158 | positive regulation of cell cycle arrest | 21102443 |
Hgene | BRCA1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
Hgene | BRCA1 | GO:0085020 | protein K6-linked ubiquitination | 12890688|20351172 |
Hgene | BRCA1 | GO:2000617 | positive regulation of histone H3-K9 acetylation | 20820192 |
Hgene | BRCA1 | GO:2000620 | positive regulation of histone H4-K16 acetylation | 20820192 |
Tgene | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | PRAD | TCGA-2A-A8W1-01A | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
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Fusion Gene ORF analysis for BRCA1-NF1 |
![]() * 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 |
5CDS-3UTR | ENST00000309486 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000346315 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000351666 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000352993 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000354071 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000357654 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000468300 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000471181 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000491747 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000493795 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000586385 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000591534 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-3UTR | ENST00000591849 | ENST00000581113 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000309486 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000309486 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000309486 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000346315 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000346315 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000346315 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000351666 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000351666 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000351666 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000352993 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000352993 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000352993 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000354071 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000354071 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000354071 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000357654 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000357654 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000357654 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000468300 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000468300 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000468300 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000471181 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000471181 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000471181 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000491747 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000491747 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000491747 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000493795 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000493795 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000493795 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000586385 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000586385 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000586385 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000591534 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000591534 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000591534 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000591849 | ENST00000417592 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000591849 | ENST00000431387 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
5CDS-intron | ENST00000591849 | ENST00000444181 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000309486 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000309486 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000346315 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000346315 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000351666 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000351666 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000352993 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000352993 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000354071 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000354071 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000357654 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000357654 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000468300 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000468300 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000471181 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000471181 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000491747 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000491747 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000493795 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000493795 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000586385 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000586385 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000591849 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
Frame-shift | ENST00000591849 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
In-frame | ENST00000591534 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
In-frame | ENST00000591534 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000591534 | BRCA1 | chr17 | 41199660 | - | ENST00000356175 | NF1 | chr17 | 29654517 | + | 7816 | 1042 | 973 | 4293 | 1106 |
ENST00000591534 | BRCA1 | chr17 | 41199660 | - | ENST00000358273 | NF1 | chr17 | 29654517 | + | 7816 | 1042 | 973 | 4293 | 1106 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000591534 | ENST00000356175 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + | 0.000466551 | 0.9995334 |
ENST00000591534 | ENST00000358273 | BRCA1 | chr17 | 41199660 | - | NF1 | chr17 | 29654517 | + | 0.000466551 | 0.9995334 |
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Fusion Genomic Features for BRCA1-NF1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
BRCA1 | chr17 | 41199659 | - | NF1 | chr17 | 29654516 | + | 4.30E-06 | 0.9999957 |
BRCA1 | chr17 | 41199659 | - | NF1 | chr17 | 29654516 | + | 4.30E-06 | 0.9999957 |
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Fusion Protein Features for BRCA1-NF1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:41199660/chr17:29654517) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | NF1 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}. |
![]() * 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 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000352993 | - | 21 | 22 | 651_654 | 680 | 722.0 | Compositional bias | Note=Poly-Lys |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000357654 | - | 22 | 23 | 651_654 | 1822 | 1864.0 | Compositional bias | Note=Poly-Lys |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000468300 | - | 21 | 22 | 651_654 | 693 | 700.0 | Compositional bias | Note=Poly-Lys |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000491747 | - | 22 | 23 | 651_654 | 718 | 760.0 | Compositional bias | Note=Poly-Lys |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000357654 | - | 22 | 23 | 1642_1736 | 1822 | 1864.0 | Domain | BRCT 1 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000352993 | - | 21 | 22 | 24_65 | 680 | 722.0 | Zinc finger | RING-type |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000357654 | - | 22 | 23 | 24_65 | 1822 | 1864.0 | Zinc finger | RING-type |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000468300 | - | 21 | 22 | 24_65 | 693 | 700.0 | Zinc finger | RING-type |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000491747 | - | 22 | 23 | 24_65 | 718 | 760.0 | Zinc finger | RING-type |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000431387 | 0 | 15 | 1352_1355 | 0 | 594.0 | Compositional bias | Note=Poly-Ser | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000431387 | 0 | 15 | 1235_1451 | 0 | 594.0 | Domain | Ras-GAP | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000431387 | 0 | 15 | 1580_1738 | 0 | 594.0 | Domain | CRAL-TRIO | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000356175 | 35 | 57 | 2555_2571 | 1735 | 2819.0 | Motif | Note=Bipartite nuclear localization signal | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000358273 | 36 | 58 | 2555_2571 | 1756 | 2840.0 | Motif | Note=Bipartite nuclear localization signal | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000431387 | 0 | 15 | 2555_2571 | 0 | 594.0 | Motif | Note=Bipartite nuclear localization signal | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000431387 | 0 | 15 | 1580_1837 | 0 | 594.0 | Region | Note=Lipid binding |
- 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 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000352993 | - | 21 | 22 | 1642_1736 | 680 | 722.0 | Domain | BRCT 1 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000352993 | - | 21 | 22 | 1756_1855 | 680 | 722.0 | Domain | BRCT 2 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000357654 | - | 22 | 23 | 1756_1855 | 1822 | 1864.0 | Domain | BRCT 2 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000468300 | - | 21 | 22 | 1642_1736 | 693 | 700.0 | Domain | BRCT 1 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000468300 | - | 21 | 22 | 1756_1855 | 693 | 700.0 | Domain | BRCT 2 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000491747 | - | 22 | 23 | 1642_1736 | 718 | 760.0 | Domain | BRCT 1 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000491747 | - | 22 | 23 | 1756_1855 | 718 | 760.0 | Domain | BRCT 2 |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000356175 | 35 | 57 | 1352_1355 | 1735 | 2819.0 | Compositional bias | Note=Poly-Ser | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000358273 | 36 | 58 | 1352_1355 | 1756 | 2840.0 | Compositional bias | Note=Poly-Ser | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000356175 | 35 | 57 | 1235_1451 | 1735 | 2819.0 | Domain | Ras-GAP | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000356175 | 35 | 57 | 1580_1738 | 1735 | 2819.0 | Domain | CRAL-TRIO | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000358273 | 36 | 58 | 1235_1451 | 1756 | 2840.0 | Domain | Ras-GAP | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000358273 | 36 | 58 | 1580_1738 | 1756 | 2840.0 | Domain | CRAL-TRIO | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000356175 | 35 | 57 | 1580_1837 | 1735 | 2819.0 | Region | Note=Lipid binding | |
Tgene | NF1 | chr17:41199660 | chr17:29654517 | ENST00000358273 | 36 | 58 | 1580_1837 | 1756 | 2840.0 | Region | Note=Lipid binding |
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Fusion Gene Sequence for BRCA1-NF1 |
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>10152_10152_1_BRCA1-NF1_BRCA1_chr17_41199660_ENST00000591534_NF1_chr17_29654517_ENST00000356175_length(transcript)=7816nt_BP=1042nt TTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTCATCCCCTTCTAAATGCCCATCATTAGAT GATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAG GAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAA TCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCT TCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTAT AATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCT GGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACT CATGTTGTTATGAAAACAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGC TATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAAC CACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATG CCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCAC CCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGGTTGGTTCTACTGCTGTCCAAGTAACTTCAGCAGAGCG AACAAAAGTCCTAGGGCAATCAGTCTTTCTAAATGACATTTATTATGCTTCGGAAATTGAAGAAATCTGCCTAGTAGATGAGAACCAGTT CACCTTAACCATTGCAAACCAGGGCACGCCGCTCACCTTCATGCACCAGGAGTGTGAAGCCATTGTCCAGTCTATCATTCATATCCGGAC CCGCTGGGAACTGTCACAGCCCGACTCTATCCCCCAACACACCAAGATTCGGCCAAAAGATGTCCCTGGGACACTGCTCAATATCGCATT ACTTAATTTAGGCAGTTCTGACCCGAGTTTACGGTCAGCTGCCTATAATCTTCTGTGTGCCTTAACTTGTACCTTTAATTTAAAAATCGA GGGCCAGTTACTAGAGACATCAGGTTTATGTATCCCTGCCAACAACACCCTCTTTATTGTCTCTATTAGTAAGACACTGGCAGCCAATGA GCCACACCTCACGTTAGAATTTTTGGAAGAGTGTATTTCTGGATTTAGCAAATCTAGTATTGAATTGAAACACCTTTGTTTGGAATACAT GACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGAT AACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGATTACAGATCTGCTTGATGT TGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGCTGAGGTGATGGCAGATACTGCTGTAGCTTTGGC TTCTGGAAATGTGAAATTGGTTTCAAGCAAGGTTATTGGAAGGATGTGCAAAATAATTGACAAGACATGCTTATCTCCAACTCCTACTTT AGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCA TCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATAT CATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGAAGAGACCAAGCAAGTTTTGAGACTCAGTCTGACAGAGTTCTCATTACC CAAATTTTACTTGCTGTTTGGCATTAGCAAAGTCAAGTCAGCTGCTGTCATTGCCTTCCGTTCCAGTTACCGGGACAGGTCATTCTCTCC TGGCTCCTATGAGAGAGAGACTTTTGCTTTGACATCCTTGGAAACAGTCACAGAAGCTTTGTTGGAGATCATGGAGGCATGCATGAGAGA TATTCCAACGTGCAAGTGGCTGGACCAGTGGACAGAACTAGCTCAAAGATTTGCATTCCAATATAATCCATCCCTGCAACCAAGAGCTCT TGTTGTCTTTGGGTGTATTAGCAAACGAGTGTCTCATGGGCAGATAAAGCAGATAATCCGTATTCTTAGCAAGGCACTTGAGAGTTGCTT AAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGACTC GCCTCTGCACAAAGCCCTCTTTTGGGTAGCTGTGGCTGTGCTGCAGCTTGATGAGGTCAACTTGTATTCAGCAGGTACCGCACTTCTTGA ACAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGAGTCCAGAGGAAGTATTTATGGCAATCCGGAATCCTCTGGAGTG GCACTGCAAGCAAATGGATCATTTTGTTGGACTCAATTTCAACTCTAACTTTAACTTTGCATTGGTTGGACACCTTTTAAAAGGGTACAG GCATCCTTCACCTGCTATTGTTGCAAGAACAGTCAGAATTTTACATACACTACTAACTCTGGTTAACAAACACAGAAATTGTGACAAATT TGAAGTGAATACACAGAGCGTGGCCTACTTAGCAGCTTTACTTACAGTGTCTGAAGAAGTTCGAAGTCGCTGCAGCCTAAAACATAGAAA GTCACTTCTTCTTACTGATATTTCAATGGAAAATGTTCCTATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGACACTAAA GGAGACTCAGCCATGGTCCTCTCCCAAAGGTTCTGAAGGATACCTTGCAGCCACCTATCCAACTGTCGGCCAGACCAGTCCCCGAGCCAG GAAATCCATGAGCCTGGACATGGGGCAACCTTCTCAGGCCAACACTAAGAAGTTGCTTGGAACAAGGAAAAGTTTTGATCACTTGATATC AGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAAT GGAAACTCAGAGGATTTCCTCATCACAACAGCACCCACATTTACGTAAAGTTTCAGTGTCTGAATCAAATGTTCTCTTGGATGAAGAAGT ACTTACTGATCCGAAGATCCAGGCGCTGCTTCTTACTGTTCTAGCTACACTGGTAAAATATACCACAGATGAGTTTGATCAACGAATTCT TTATGAATACTTAGCAGAGGCCAGTGTTGTGTTTCCCAAAGTCTTTCCTGTTGTGCATAATTTGTTGGACTCTAAGATCAACACCCTGTT ATCATTGTGCCAAGATCCAAATTTGTTAAATCCAATCCATGGAATTGTGCAGAGTGTGGTGTACCATGAAGAATCCCCACCACAATACCA AACATCTTACCTGCAAAGTTTTGGTTTTAATGGCTTGTGGCGGTTTGCAGGACCGTTTTCAAAGCAAACACAAATTCCAGACTATGCTGA GCTTATTGTTAAGTTTCTTGATGCCTTGATTGACACGTACCTGCCTGGAATTGATGAAGAAACCAGTGAAGAATCCCTCCTGACTCCCAC ATCTCCTTACCCTCCTGCACTGCAGAGCCAGCTTAGTATCACTGCCAACCTTAACCTTTCTAATTCCATGACCTCACTTGCAACTTCCCA GCATTCCCCAGGAATCGACAAGGAGAACGTTGAACTCTCCCCTACCACTGGCCACTGTAACAGTGGACGAACTCGCCACGGATCCGCAAG CCAAGTGCAGAAGCAAAGAAGCGCTGGCAGTTTCAAACGTAATAGCATTAAGAAGATCGTGTGAAGCTTGCTTGCTTTCTTTTTTAAAAT CAACTTAACATGGGCTCTTCACTAGTGACCCCTTCCCTGTCCTTGCCCTTTCCCCCCATGTTGTAATGCTGCACTTCCTGTTTTATAATG AACCCATCCGGTTTGCCATGTTGCCAGATGATCAACTCTTCGAAGCCTTGCCTAAATTTAATGCTGCCTTTTCTTTAACTTTTTTTCTTC TACTTTTGGCGTGTATCTGGTATATGTAAGTGTTCAGAACAACTGCAAAGAAAGTGGGAGGTCAGGAAACTTTTAACTGAGAAATCTCAA TTGTAAGAGAGGATGAATTCTTGAATACTGCTACTACTGGCCAGTGATGAAAGCCATTTGCACAGAGCTCTGCCTTCTGTGGTTTTCCCT TCTTCATCCTACAGAGTAAAGTGTTAGTCCTATTTATACATTTTTCAAGATACAAGTTTATGAGAGAAATAGTATTATAACCCCAGTATG TTTAATCTTTTAGCTGTGGACTTTTTTTTTAACCGTACAAAACTGAAAGAACCATAGAGGTCAAGCCTCAGTGACTTGACACCATAAAGC CACAGACAAGGTACTTGGGGGGGAGGGCAGGGAAATTTCATATTTTATAGTGGATTCTTAAGAAATACTAACACTTGAGTATTAGCAATA ATTACAGGAAAATAAGTGCGACCACATATATCTTAACATTACTGAATTAAAACTATGGCTTCTAAGTCCTTATCCAAACTCAGTCATCCA AACTAGTTTATTTTTTTCTCCAGTTGATTATCTTTTAATTTTTAATTTTGCTAAAGGTGGTTTTTTTGTGTTTTGTTTTTTGTAAACCAA AACTATACTAAGTATAGTAATTATATATATATATATATTTTTTCCCCTCCCCCTCTTCTTTCCTAACTAATTCTGAGCAGGGTAATCAGT GAACAAAGTGTTGAAAATTGTTCCCAGAAGGTAATTTTCATAGATGTTTGCATTAGCTCCATAGCAAAATGGAATGGTACGTGACATTTA GGGTAGCTGATATTTTTATTTTGTTAAATAATTTCCAAGAATAGAGTATGGTGTATATTATAAATTTCTTTGATAAGATGTATTTTGAAT GTCTTTTAATCTTCCTCCTCCTCTCCAAAAAAATCAGAAACCTCTTTAAGAAAACATGTAGGTTATATATGCTAGAATTGCATTTAATCA CTGTGAAAAGACTGGTCAGCCTGCATTAGTATGACAGTAGGGGGGCTGTTAGAATTGCTGCTATACTGGTGGTATGGATTATCATGGCAT TGGAATTTTCATAGTAATGCAGATCCAATTTCTTTGTGGTACCTGCAGTTTACAAAATAATTTGACTTCAGTGAGCATATTGGTATCTGG ATGTTCCAATTTAGAACTAAACCATATTTATTACAAAAAGATATTAATCCCTCTACTCCCAGGTTCCCTTTATATGTTAAGATATAATGG CTTTGAGGGGGGAAAAAATAAACCTAGGGGAGAGGGGAGTTTCCTGTAGTGCTGTTTCATTAGAGGATTTCAGTAAATTAAATTCCACAG CTAATTCAATAAATAATGGTACATTTAAGTGTTCTGATTTTAATAATATATTTCACATTTATCCACACAGTAACAATGTAATATGTTAAT GTAAATAAAATTGGTTTTGATACTCAGAAATAACAAGAATTTAATTTTTTAAATTTGTTTACAGTCCTGGGAAAAGTAAGAATTATTTGC CAAAATAAGAGGAAAGAAAACCTTAGTATTATTAATGAGTTTACCATAGAATTGTTGGAAATACTGAAGACAGGTGCAATTTACTAAACT TTTGTTTTTAAACTATTGTAGAGGCTGCATTAGAAGAAAATGTTTATAATGACAGAGCAACTATGACTATATAAAAAAGCTGAAATTAGA ACTGTGTTTAGAAATAGATCAGTAACCCAGTGCCAAGGATGCCAAGCTGCCACCATGGTCTTGGCTCTCCCACAACCCAGTGTTTCTGGG GTAAGTTTCACAGTTTCTAGGCCCTGGAATAGCAGGCAGTGTAAGCCTTTGATAACTTTAGTTCGATGTTTTTCTTGTTTTTGTTTGTTG GTTTGGTGCATATGATAGTGGGTGTTATGCTATTTTGCTCTTCCCATCAAAATAAAGAAACTTCCAGAGGTTTACTGTTAAAAATACTGA TATTTCCATAAACGGGTTTACCAAGGGTGTAGTATTTCATACCGCCTGAAATGATCAGCATTGGCACAAATCAAAATTCAGCCGCCTTTG AAATGCAAAAATACCTTTGACTAGTAAGTACATCCTAGGAGTTTGAAAACTTAACTAAGGTTTAAAATTTACCTTGTTTAAAGAACTTCT GACTTTTGAGGAAAATCTAGCTTTCCAAGTAACTAAAATGTACATGAGATAAACCTCTCACCACTATGTGTCCCTTGAGAAATGCAACAC TTTTTTAGTCTTCATACTTGTAATCTATAAAAGAAATTCTGAAGTTTAGACCAAGTTGCCCATTTCTGCGTAATTGACATAAGTTCTGTT AAAAATATTATAAGTAATTCGTTTCGGTTTGTAGATGTTTCCCCTGACTTGTTAAAGAGGAAACCAGGAACTCAGTCATGTTTTTGTCCT GGATAATCTACCTGTTATGCCAGTACTCCCATCCGAGGGGCATGCCCTTAGTTGCCCAGATGGAGATGCAGTTCAGTAGATTTGGGGCAA AGTGGCTACAGCTCTGTCTTCCATTCACTCAACACCTGTTCATGACTGAGCCAGGTGCCCAGGACACATCCTAAACAGTCAGCTTCTATC CTGTGTCCTAGTTGGGGAGACAGAGTGCCAGCCAGCAACCCTCCCAGGTTTGTAGGTTTTAGGGGTTTTCAGTTTTGTTTGGGTTTTTTG TTTTTTGTTTTTGTTTCTACATCCTTCCCCGACTCCCAGGCATAATGAGGCATGTCTTACTCAATGTTATGCAATGGATTTAGGCAAAAA TTCATTCTTAGTGTCAGCCACACAATTTTTTTTAATGCAGTATATTCACCTGTAAATAGTTTGTGTAAAATTTGACAAAAAAAGTATATT TACTATACTGTAAATATATGTGATGATATATTGTATTATTTTGCTTTTTTGTAAAGCAGTTAGTTGCTGCACATGGATAACAACAAAAAT TTGATTATTCTCGTGTTAGTATTGTTAACTTCTTTTTGCGACTGCGTTACATCATTTAAAGAAAATGCTGTGTATTGTAAACTTAAATTG TATATGATAACTTACTGTCCTTTCCATCCGGGCCTAAACTTTGGCAGTTCCTTTGTCTACAACCTTGTTAATACTGTAAACAGTTGTACG CCAGCAGGAAAAATACTGCCCAACAGACAAAATCGATCATTGTAGGGGAAAATCATAGAAATCCATTTCAGATCTTTATTGTTCCTCACC >10152_10152_1_BRCA1-NF1_BRCA1_chr17_41199660_ENST00000591534_NF1_chr17_29654517_ENST00000356175_length(amino acids)=1106AA_BP=23 MAQVSTQLWLCSQMPGQRTMASMVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQS IIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISK TLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQI TDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNS LDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYR DRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSK ALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAI RNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRC SLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKS FDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDE FDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQ IPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRT -------------------------------------------------------------- >10152_10152_2_BRCA1-NF1_BRCA1_chr17_41199660_ENST00000591534_NF1_chr17_29654517_ENST00000358273_length(transcript)=7816nt_BP=1042nt TTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTCATCCCCTTCTAAATGCCCATCATTAGAT GATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAG GAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAA TCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCT TCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTAT AATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCT GGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACT CATGTTGTTATGAAAACAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGC TATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAAC CACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATG CCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCAC CCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGGTTGGTTCTACTGCTGTCCAAGTAACTTCAGCAGAGCG AACAAAAGTCCTAGGGCAATCAGTCTTTCTAAATGACATTTATTATGCTTCGGAAATTGAAGAAATCTGCCTAGTAGATGAGAACCAGTT CACCTTAACCATTGCAAACCAGGGCACGCCGCTCACCTTCATGCACCAGGAGTGTGAAGCCATTGTCCAGTCTATCATTCATATCCGGAC CCGCTGGGAACTGTCACAGCCCGACTCTATCCCCCAACACACCAAGATTCGGCCAAAAGATGTCCCTGGGACACTGCTCAATATCGCATT ACTTAATTTAGGCAGTTCTGACCCGAGTTTACGGTCAGCTGCCTATAATCTTCTGTGTGCCTTAACTTGTACCTTTAATTTAAAAATCGA GGGCCAGTTACTAGAGACATCAGGTTTATGTATCCCTGCCAACAACACCCTCTTTATTGTCTCTATTAGTAAGACACTGGCAGCCAATGA GCCACACCTCACGTTAGAATTTTTGGAAGAGTGTATTTCTGGATTTAGCAAATCTAGTATTGAATTGAAACACCTTTGTTTGGAATACAT GACTCCATGGCTGTCAAATCTAGTTCGTTTTTGCAAGCATAATGATGATGCCAAACGACAAAGAGTTACTGCTATTCTTGACAAGCTGAT AACAATGACCATCAATGAAAAACAGATGTACCCATCTATTCAAGCAAAAATATGGGGAAGCCTTGGGCAGATTACAGATCTGCTTGATGT TGTACTAGACAGTTTCATCAAAACCAGTGCAACAGGTGGCTTGGGATCAATAAAAGCTGAGGTGATGGCAGATACTGCTGTAGCTTTGGC TTCTGGAAATGTGAAATTGGTTTCAAGCAAGGTTATTGGAAGGATGTGCAAAATAATTGACAAGACATGCTTATCTCCAACTCCTACTTT AGAACAACATCTTATGTGGGATGATATTGCTATTTTAGCACGCTACATGCTGATGCTGTCCTTCAACAATTCCCTTGATGTGGCAGCTCA TCTTCCCTACCTCTTCCACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGCTTCCACACATGGACTGGTCATTAATAT CATTCACTCTCTGTGTACTTGTTCACAGCTTCATTTTAGTGAAGAGACCAAGCAAGTTTTGAGACTCAGTCTGACAGAGTTCTCATTACC CAAATTTTACTTGCTGTTTGGCATTAGCAAAGTCAAGTCAGCTGCTGTCATTGCCTTCCGTTCCAGTTACCGGGACAGGTCATTCTCTCC TGGCTCCTATGAGAGAGAGACTTTTGCTTTGACATCCTTGGAAACAGTCACAGAAGCTTTGTTGGAGATCATGGAGGCATGCATGAGAGA TATTCCAACGTGCAAGTGGCTGGACCAGTGGACAGAACTAGCTCAAAGATTTGCATTCCAATATAATCCATCCCTGCAACCAAGAGCTCT TGTTGTCTTTGGGTGTATTAGCAAACGAGTGTCTCATGGGCAGATAAAGCAGATAATCCGTATTCTTAGCAAGGCACTTGAGAGTTGCTT AAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCACTAACCAAATTACAGCCACTTCTTAATAAGGACTC GCCTCTGCACAAAGCCCTCTTTTGGGTAGCTGTGGCTGTGCTGCAGCTTGATGAGGTCAACTTGTATTCAGCAGGTACCGCACTTCTTGA ACAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGAGTCCAGAGGAAGTATTTATGGCAATCCGGAATCCTCTGGAGTG GCACTGCAAGCAAATGGATCATTTTGTTGGACTCAATTTCAACTCTAACTTTAACTTTGCATTGGTTGGACACCTTTTAAAAGGGTACAG GCATCCTTCACCTGCTATTGTTGCAAGAACAGTCAGAATTTTACATACACTACTAACTCTGGTTAACAAACACAGAAATTGTGACAAATT TGAAGTGAATACACAGAGCGTGGCCTACTTAGCAGCTTTACTTACAGTGTCTGAAGAAGTTCGAAGTCGCTGCAGCCTAAAACATAGAAA GTCACTTCTTCTTACTGATATTTCAATGGAAAATGTTCCTATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGACACTAAA GGAGACTCAGCCATGGTCCTCTCCCAAAGGTTCTGAAGGATACCTTGCAGCCACCTATCCAACTGTCGGCCAGACCAGTCCCCGAGCCAG GAAATCCATGAGCCTGGACATGGGGCAACCTTCTCAGGCCAACACTAAGAAGTTGCTTGGAACAAGGAAAAGTTTTGATCACTTGATATC AGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAAT GGAAACTCAGAGGATTTCCTCATCACAACAGCACCCACATTTACGTAAAGTTTCAGTGTCTGAATCAAATGTTCTCTTGGATGAAGAAGT ACTTACTGATCCGAAGATCCAGGCGCTGCTTCTTACTGTTCTAGCTACACTGGTAAAATATACCACAGATGAGTTTGATCAACGAATTCT TTATGAATACTTAGCAGAGGCCAGTGTTGTGTTTCCCAAAGTCTTTCCTGTTGTGCATAATTTGTTGGACTCTAAGATCAACACCCTGTT ATCATTGTGCCAAGATCCAAATTTGTTAAATCCAATCCATGGAATTGTGCAGAGTGTGGTGTACCATGAAGAATCCCCACCACAATACCA AACATCTTACCTGCAAAGTTTTGGTTTTAATGGCTTGTGGCGGTTTGCAGGACCGTTTTCAAAGCAAACACAAATTCCAGACTATGCTGA GCTTATTGTTAAGTTTCTTGATGCCTTGATTGACACGTACCTGCCTGGAATTGATGAAGAAACCAGTGAAGAATCCCTCCTGACTCCCAC ATCTCCTTACCCTCCTGCACTGCAGAGCCAGCTTAGTATCACTGCCAACCTTAACCTTTCTAATTCCATGACCTCACTTGCAACTTCCCA GCATTCCCCAGGAATCGACAAGGAGAACGTTGAACTCTCCCCTACCACTGGCCACTGTAACAGTGGACGAACTCGCCACGGATCCGCAAG CCAAGTGCAGAAGCAAAGAAGCGCTGGCAGTTTCAAACGTAATAGCATTAAGAAGATCGTGTGAAGCTTGCTTGCTTTCTTTTTTAAAAT CAACTTAACATGGGCTCTTCACTAGTGACCCCTTCCCTGTCCTTGCCCTTTCCCCCCATGTTGTAATGCTGCACTTCCTGTTTTATAATG AACCCATCCGGTTTGCCATGTTGCCAGATGATCAACTCTTCGAAGCCTTGCCTAAATTTAATGCTGCCTTTTCTTTAACTTTTTTTCTTC TACTTTTGGCGTGTATCTGGTATATGTAAGTGTTCAGAACAACTGCAAAGAAAGTGGGAGGTCAGGAAACTTTTAACTGAGAAATCTCAA TTGTAAGAGAGGATGAATTCTTGAATACTGCTACTACTGGCCAGTGATGAAAGCCATTTGCACAGAGCTCTGCCTTCTGTGGTTTTCCCT TCTTCATCCTACAGAGTAAAGTGTTAGTCCTATTTATACATTTTTCAAGATACAAGTTTATGAGAGAAATAGTATTATAACCCCAGTATG TTTAATCTTTTAGCTGTGGACTTTTTTTTTAACCGTACAAAACTGAAAGAACCATAGAGGTCAAGCCTCAGTGACTTGACACCATAAAGC CACAGACAAGGTACTTGGGGGGGAGGGCAGGGAAATTTCATATTTTATAGTGGATTCTTAAGAAATACTAACACTTGAGTATTAGCAATA ATTACAGGAAAATAAGTGCGACCACATATATCTTAACATTACTGAATTAAAACTATGGCTTCTAAGTCCTTATCCAAACTCAGTCATCCA AACTAGTTTATTTTTTTCTCCAGTTGATTATCTTTTAATTTTTAATTTTGCTAAAGGTGGTTTTTTTGTGTTTTGTTTTTTGTAAACCAA AACTATACTAAGTATAGTAATTATATATATATATATATTTTTTCCCCTCCCCCTCTTCTTTCCTAACTAATTCTGAGCAGGGTAATCAGT GAACAAAGTGTTGAAAATTGTTCCCAGAAGGTAATTTTCATAGATGTTTGCATTAGCTCCATAGCAAAATGGAATGGTACGTGACATTTA GGGTAGCTGATATTTTTATTTTGTTAAATAATTTCCAAGAATAGAGTATGGTGTATATTATAAATTTCTTTGATAAGATGTATTTTGAAT GTCTTTTAATCTTCCTCCTCCTCTCCAAAAAAATCAGAAACCTCTTTAAGAAAACATGTAGGTTATATATGCTAGAATTGCATTTAATCA CTGTGAAAAGACTGGTCAGCCTGCATTAGTATGACAGTAGGGGGGCTGTTAGAATTGCTGCTATACTGGTGGTATGGATTATCATGGCAT TGGAATTTTCATAGTAATGCAGATCCAATTTCTTTGTGGTACCTGCAGTTTACAAAATAATTTGACTTCAGTGAGCATATTGGTATCTGG ATGTTCCAATTTAGAACTAAACCATATTTATTACAAAAAGATATTAATCCCTCTACTCCCAGGTTCCCTTTATATGTTAAGATATAATGG CTTTGAGGGGGGAAAAAATAAACCTAGGGGAGAGGGGAGTTTCCTGTAGTGCTGTTTCATTAGAGGATTTCAGTAAATTAAATTCCACAG CTAATTCAATAAATAATGGTACATTTAAGTGTTCTGATTTTAATAATATATTTCACATTTATCCACACAGTAACAATGTAATATGTTAAT GTAAATAAAATTGGTTTTGATACTCAGAAATAACAAGAATTTAATTTTTTAAATTTGTTTACAGTCCTGGGAAAAGTAAGAATTATTTGC CAAAATAAGAGGAAAGAAAACCTTAGTATTATTAATGAGTTTACCATAGAATTGTTGGAAATACTGAAGACAGGTGCAATTTACTAAACT TTTGTTTTTAAACTATTGTAGAGGCTGCATTAGAAGAAAATGTTTATAATGACAGAGCAACTATGACTATATAAAAAAGCTGAAATTAGA ACTGTGTTTAGAAATAGATCAGTAACCCAGTGCCAAGGATGCCAAGCTGCCACCATGGTCTTGGCTCTCCCACAACCCAGTGTTTCTGGG GTAAGTTTCACAGTTTCTAGGCCCTGGAATAGCAGGCAGTGTAAGCCTTTGATAACTTTAGTTCGATGTTTTTCTTGTTTTTGTTTGTTG GTTTGGTGCATATGATAGTGGGTGTTATGCTATTTTGCTCTTCCCATCAAAATAAAGAAACTTCCAGAGGTTTACTGTTAAAAATACTGA TATTTCCATAAACGGGTTTACCAAGGGTGTAGTATTTCATACCGCCTGAAATGATCAGCATTGGCACAAATCAAAATTCAGCCGCCTTTG AAATGCAAAAATACCTTTGACTAGTAAGTACATCCTAGGAGTTTGAAAACTTAACTAAGGTTTAAAATTTACCTTGTTTAAAGAACTTCT GACTTTTGAGGAAAATCTAGCTTTCCAAGTAACTAAAATGTACATGAGATAAACCTCTCACCACTATGTGTCCCTTGAGAAATGCAACAC TTTTTTAGTCTTCATACTTGTAATCTATAAAAGAAATTCTGAAGTTTAGACCAAGTTGCCCATTTCTGCGTAATTGACATAAGTTCTGTT AAAAATATTATAAGTAATTCGTTTCGGTTTGTAGATGTTTCCCCTGACTTGTTAAAGAGGAAACCAGGAACTCAGTCATGTTTTTGTCCT GGATAATCTACCTGTTATGCCAGTACTCCCATCCGAGGGGCATGCCCTTAGTTGCCCAGATGGAGATGCAGTTCAGTAGATTTGGGGCAA AGTGGCTACAGCTCTGTCTTCCATTCACTCAACACCTGTTCATGACTGAGCCAGGTGCCCAGGACACATCCTAAACAGTCAGCTTCTATC CTGTGTCCTAGTTGGGGAGACAGAGTGCCAGCCAGCAACCCTCCCAGGTTTGTAGGTTTTAGGGGTTTTCAGTTTTGTTTGGGTTTTTTG TTTTTTGTTTTTGTTTCTACATCCTTCCCCGACTCCCAGGCATAATGAGGCATGTCTTACTCAATGTTATGCAATGGATTTAGGCAAAAA TTCATTCTTAGTGTCAGCCACACAATTTTTTTTAATGCAGTATATTCACCTGTAAATAGTTTGTGTAAAATTTGACAAAAAAAGTATATT TACTATACTGTAAATATATGTGATGATATATTGTATTATTTTGCTTTTTTGTAAAGCAGTTAGTTGCTGCACATGGATAACAACAAAAAT TTGATTATTCTCGTGTTAGTATTGTTAACTTCTTTTTGCGACTGCGTTACATCATTTAAAGAAAATGCTGTGTATTGTAAACTTAAATTG TATATGATAACTTACTGTCCTTTCCATCCGGGCCTAAACTTTGGCAGTTCCTTTGTCTACAACCTTGTTAATACTGTAAACAGTTGTACG CCAGCAGGAAAAATACTGCCCAACAGACAAAATCGATCATTGTAGGGGAAAATCATAGAAATCCATTTCAGATCTTTATTGTTCCTCACC >10152_10152_2_BRCA1-NF1_BRCA1_chr17_41199660_ENST00000591534_NF1_chr17_29654517_ENST00000358273_length(amino acids)=1106AA_BP=23 MAQVSTQLWLCSQMPGQRTMASMVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQS IIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISK TLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQI TDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNS LDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYR DRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSK ALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAI RNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRC SLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKS FDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDE FDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQ IPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRT -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for BRCA1-NF1 |
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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 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000357654 | - | 22 | 23 | 1397_1424 | 1822.3333333333333 | 1864.0 | PALB2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000352993 | - | 21 | 22 | 1397_1424 | 680.3333333333334 | 722.0 | PALB2 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000468300 | - | 21 | 22 | 1397_1424 | 693.6666666666666 | 700.0 | PALB2 |
Hgene | BRCA1 | chr17:41199660 | chr17:29654517 | ENST00000491747 | - | 22 | 23 | 1397_1424 | 718.3333333333334 | 760.0 | PALB2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BRCA1-NF1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BRCA1-NF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BRCA1 | C0006142 | Malignant neoplasm of breast | 34 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRCA1 | C2676676 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 16 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRCA1 | C0678222 | Breast Carcinoma | 12 | CGI;CTD_human |
Hgene | BRCA1 | C1257931 | Mammary Neoplasms, Human | 12 | CTD_human |
Hgene | BRCA1 | C1458155 | Mammary Neoplasms | 12 | CTD_human |
Hgene | BRCA1 | C4704874 | Mammary Carcinoma, Human | 12 | CTD_human |
Hgene | BRCA1 | C2676677 | BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 10 | CLINGEN |
Hgene | BRCA1 | C2676678 | OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 10 | CLINGEN |
Hgene | BRCA1 | C1140680 | Malignant neoplasm of ovary | 9 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRCA1 | C4554406 | FANCONI ANEMIA, COMPLEMENTATION GROUP S | 7 | CLINGEN;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRCA1 | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | BRCA1 | C0011581 | Depressive disorder | 5 | PSYGENET |
Hgene | BRCA1 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | BRCA1 | C0919267 | ovarian neoplasm | 5 | CGI;CTD_human |
Hgene | BRCA1 | C0015625 | Fanconi Anemia | 4 | GENOMICS_ENGLAND;ORPHANET |
Hgene | BRCA1 | C0346153 | Breast Cancer, Familial | 3 | ORPHANET |
Hgene | BRCA1 | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
Hgene | BRCA1 | C2931456 | Prostate cancer, familial | 2 | ORPHANET |
Hgene | BRCA1 | C3280442 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | 2 | GENOMICS_ENGLAND |
Hgene | BRCA1 | C0006826 | Malignant Neoplasms | 1 | CGI;CTD_human |
Hgene | BRCA1 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | BRCA1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | BRCA1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | BRCA1 | C0023465 | Acute monocytic leukemia | 1 | GENOMICS_ENGLAND |
Hgene | BRCA1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | GENOMICS_ENGLAND |
Hgene | BRCA1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | BRCA1 | C0026636 | Mouth Diseases | 1 | CTD_human |
Hgene | BRCA1 | C0027651 | Neoplasms | 1 | CTD_human |
Hgene | BRCA1 | C0030297 | Pancreatic Neoplasm | 1 | CGI;CTD_human |
Hgene | BRCA1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BRCA1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | BRCA1 | C0086692 | Benign Neoplasm | 1 | CTD_human |
Hgene | BRCA1 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | BRCA1 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | BRCA1 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | BRCA1 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | BRCA1 | C0265219 | Miller Dieker syndrome | 1 | GENOMICS_ENGLAND |
Hgene | BRCA1 | C0333704 | Chromosome Breaks | 1 | CTD_human |
Hgene | BRCA1 | C0346647 | Malignant neoplasm of pancreas | 1 | CGI;CTD_human |
Hgene | BRCA1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | BRCA1 | C0376628 | Chromosome Breakage | 1 | CTD_human |
Hgene | BRCA1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | BRCA1 | C1514428 | Primary peritoneal carcinoma | 1 | ORPHANET |
Hgene | BRCA1 | C2931038 | Pancreatic carcinoma, familial | 1 | ORPHANET |
Hgene | BRCA1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | GENOMICS_ENGLAND |
Hgene | BRCA1 | C4225275 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 | 1 | GENOMICS_ENGLAND |
Hgene | BRCA1 | C4749652 | Hereditary site-specific ovarian cancer syndrome | 1 | ORPHANET |
Tgene | C0027831 | Neurofibromatosis 1 | 44 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 10 | CLINGEN | |
Tgene | C0349639 | Juvenile Myelomonocytic Leukemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C2931482 | Neurofibromatosis-Noonan syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0553586 | Cafe-au-lait macules with pulmonary stenosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0162678 | Neurofibromatoses | 3 | CGI;CTD_human;GENOMICS_ENGLAND | |
Tgene | C0004114 | Astrocytoma | 2 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human | |
Tgene | C0025202 | melanoma | 2 | CGI;CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human | |
Tgene | C0205768 | Subependymal Giant Cell Astrocytoma | 2 | CTD_human | |
Tgene | C0206727 | Nerve Sheath Tumors | 2 | CTD_human | |
Tgene | C0280783 | Juvenile Pilocytic Astrocytoma | 2 | CTD_human | |
Tgene | C0280785 | Diffuse Astrocytoma | 2 | CTD_human | |
Tgene | C0334579 | Anaplastic astrocytoma | 2 | CTD_human | |
Tgene | C0334580 | Protoplasmic astrocytoma | 2 | CTD_human | |
Tgene | C0334581 | Gemistocytic astrocytoma | 2 | CTD_human | |
Tgene | C0334582 | Fibrillary Astrocytoma | 2 | CTD_human | |
Tgene | C0334583 | Pilocytic Astrocytoma | 2 | CTD_human | |
Tgene | C0338070 | Childhood Cerebral Astrocytoma | 2 | CTD_human | |
Tgene | C0547065 | Mixed oligoastrocytoma | 2 | CTD_human | |
Tgene | C0750935 | Cerebral Astrocytoma | 2 | CTD_human | |
Tgene | C0750936 | Intracranial Astrocytoma | 2 | CTD_human | |
Tgene | C0751689 | Peripheral Nerve Sheath Neoplasm | 2 | CTD_human | |
Tgene | C0751691 | Perineurioma | 2 | CTD_human | |
Tgene | C1704230 | Grade I Astrocytoma | 2 | CTD_human | |
Tgene | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human | |
Tgene | C0001430 | Adenoma | 1 | CTD_human | |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human | |
Tgene | C0016057 | Fibrosarcoma | 1 | CTD_human | |
Tgene | C0017636 | Glioblastoma | 1 | CTD_human | |
Tgene | C0017638 | Glioma | 1 | CGI;CTD_human | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0023186 | Learning Disorders | 1 | CTD_human | |
Tgene | C0023827 | liposarcoma | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0026654 | Moyamoya Disease | 1 | GENOMICS_ENGLAND | |
Tgene | C0027809 | Neurilemmoma | 1 | CTD_human | |
Tgene | C0027830 | neurofibroma | 1 | CTD_human | |
Tgene | C0027962 | Melanocytic nevus | 1 | CTD_human | |
Tgene | C0028326 | Noonan Syndrome | 1 | GENOMICS_ENGLAND | |
Tgene | C0031511 | Pheochromocytoma | 1 | CTD_human | |
Tgene | C0035320 | Retinal Neovascularization | 1 | CTD_human | |
Tgene | C0205646 | Adenoma, Basal Cell | 1 | CTD_human | |
Tgene | C0205647 | Follicular adenoma | 1 | CTD_human | |
Tgene | C0205648 | Adenoma, Microcystic | 1 | CTD_human | |
Tgene | C0205649 | Adenoma, Monomorphic | 1 | CTD_human | |
Tgene | C0205650 | Papillary adenoma | 1 | CTD_human | |
Tgene | C0205651 | Adenoma, Trabecular | 1 | CTD_human | |
Tgene | C0205824 | Liposarcoma, Dedifferentiated | 1 | CTD_human | |
Tgene | C0205825 | Liposarcoma, Pleomorphic | 1 | CTD_human | |
Tgene | C0205944 | Sarcoma, Epithelioid | 1 | CTD_human | |
Tgene | C0205945 | Sarcoma, Spindle Cell | 1 | CTD_human | |
Tgene | C0259783 | mixed gliomas | 1 | CTD_human | |
Tgene | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 1 | CTD_human | |
Tgene | C0751262 | Adult Learning Disorders | 1 | CTD_human | |
Tgene | C0751263 | Learning Disturbance | 1 | CTD_human | |
Tgene | C0751265 | Learning Disabilities | 1 | CTD_human | |
Tgene | C0751374 | Schwannomatosis, Plexiform | 1 | CTD_human | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C0917817 | Neurofibromatosis 3 | 1 | CTD_human | |
Tgene | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human | |
Tgene | C1261473 | Sarcoma | 1 | CTD_human | |
Tgene | C1330966 | Developmental Academic Disorder | 1 | CTD_human | |
Tgene | C1370889 | Liposarcoma, well differentiated | 1 | CTD_human | |
Tgene | C1621958 | Glioblastoma Multiforme | 1 | CTD_human | |
Tgene | C3150928 | NF1 Microdeletion Syndrome | 1 | ORPHANET | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human |