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Fusion Protein:FANCI-ABHD2 |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: FANCI-ABHD2 | FusionPDB ID: 29335 | FusionGDB2.0 ID: 29335 | Hgene | Tgene | Gene symbol | FANCI | ABHD2 | Gene ID | 55215 | 11057 |
Gene name | FA complementation group I | abhydrolase domain containing 2, acylglycerol lipase | |
Synonyms | KIAA1794 | HS1-2|LABH2|PHPS1-2 | |
Cytomap | 15q26.1 | 15q26.1 | |
Type of gene | protein-coding | protein-coding | |
Description | Fanconi anemia group I proteinFanconi anemia complementation group I | monoacylglycerol lipase ABHD22-arachidonoylglycerol hydrolaseabhydrolase domain containing 2abhydrolase domain-containing protein 2acetylesterasealpha/beta hydrolase domain containing protein 2lung alpha/beta hydrolase 2progesterone-sensitive lipas | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q9NVI1 Main function of 5'-partner protein: FUNCTION: Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19111657}. | P08910 Main function of 5'-partner protein: FUNCTION: Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester (PubMed:27247428). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity). {ECO:0000250|UniProtKB:Q9QXM0, ECO:0000269|PubMed:26989199, ECO:0000269|PubMed:27247428}. | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000300027, ENST00000310775, ENST00000451393, ENST00000566615, ENST00000567996, | ENST00000562254, ENST00000352732, ENST00000355100, ENST00000565973, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 5 X 5 X 4=100 | 11 X 11 X 4=484 |
# samples | 6 | 13 | |
** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/484*10)=-1.89649542424614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: FANCI [Title/Abstract] AND ABHD2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: FANCI [Title/Abstract] AND ABHD2 [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FANCI(89822005)-ABHD2(89719043), # samples:2 ABHD2(89736550)-FANCI(89790859), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | FANCI-ABHD2 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. FANCI-ABHD2 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. |
* 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 | FANCI | GO:0031398 | positive regulation of protein ubiquitination | 18029348 |
Tgene | ABHD2 | GO:0032570 | response to progesterone | 26989199 |
Tgene | ABHD2 | GO:0043401 | steroid hormone mediated signaling pathway | 26989199 |
Tgene | ABHD2 | GO:0046464 | acylglycerol catabolic process | 26989199 |
Tgene | ABHD2 | GO:0048240 | sperm capacitation | 26989199 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:89822005/chr15:89719043) - 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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![]() * 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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Fusion Amino Acid Sequences |
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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) |
ENST00000300027 | FANCI | chr15 | 89822005 | + | ENST00000352732 | ABHD2 | chr15 | 89719043 | + | 9162 | 1485 | 104 | 2224 | 706 |
ENST00000300027 | FANCI | chr15 | 89822005 | + | ENST00000565973 | ABHD2 | chr15 | 89719043 | + | 2553 | 1485 | 104 | 2224 | 706 |
ENST00000300027 | FANCI | chr15 | 89822005 | + | ENST00000355100 | ABHD2 | chr15 | 89719043 | + | 9162 | 1485 | 104 | 2224 | 706 |
ENST00000310775 | FANCI | chr15 | 89822005 | + | ENST00000352732 | ABHD2 | chr15 | 89719043 | + | 9144 | 1467 | 86 | 2206 | 706 |
ENST00000310775 | FANCI | chr15 | 89822005 | + | ENST00000565973 | ABHD2 | chr15 | 89719043 | + | 2535 | 1467 | 86 | 2206 | 706 |
ENST00000310775 | FANCI | chr15 | 89822005 | + | ENST00000355100 | ABHD2 | chr15 | 89719043 | + | 9144 | 1467 | 86 | 2206 | 706 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000300027 | ENST00000352732 | FANCI | chr15 | 89822005 | + | ABHD2 | chr15 | 89719043 | + | 0.001164886 | 0.99883515 |
ENST00000300027 | ENST00000565973 | FANCI | chr15 | 89822005 | + | ABHD2 | chr15 | 89719043 | + | 0.003646077 | 0.996354 |
ENST00000300027 | ENST00000355100 | FANCI | chr15 | 89822005 | + | ABHD2 | chr15 | 89719043 | + | 0.001164886 | 0.99883515 |
ENST00000310775 | ENST00000352732 | FANCI | chr15 | 89822005 | + | ABHD2 | chr15 | 89719043 | + | 0.001159815 | 0.99884015 |
ENST00000310775 | ENST00000565973 | FANCI | chr15 | 89822005 | + | ABHD2 | chr15 | 89719043 | + | 0.003710745 | 0.99628925 |
ENST00000310775 | ENST00000355100 | FANCI | chr15 | 89822005 | + | ABHD2 | chr15 | 89719043 | + | 0.001159815 | 0.99884015 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for FANCI-ABHD2 |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
FANCI | chr15 | 89822005 | ABHD2 | chr15 | 89719043 | 1467 | 460 | VVTRASSPISHFLGCTWEFGAMVNYI |
FANCI | chr15 | 89822005 | ABHD2 | chr15 | 89719043 | 1485 | 460 | VVTRASSPISHFLGCTWEFGAMVNYI |
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Potential FusionNeoAntigen Information of FANCI-ABHD2 in HLA I |
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FANCI-ABHD2_89822005_89719043.msa |
![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B38:01 | SHFLGCTW | 0.7847 | 0.9985 | 9 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B57:01 | ISHFLGCTW | 0.9993 | 0.9945 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B58:01 | ISHFLGCTW | 0.9991 | 0.9928 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B58:02 | ISHFLGCTW | 0.9986 | 0.9936 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B57:03 | ISHFLGCTW | 0.9963 | 0.9977 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:23 | HFLGCTWEF | 0.9959 | 0.5314 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:16 | ISHFLGCTW | 0.9958 | 0.943 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:17 | ISHFLGCTW | 0.9956 | 0.9845 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:25 | HFLGCTWEF | 0.9934 | 0.6054 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:20 | HFLGCTWEF | 0.9918 | 0.6021 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:15 | HFLGCTWEF | 0.9914 | 0.6206 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:31 | HFLGCTWEF | 0.9888 | 0.6194 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A29:10 | HFLGCTWEF | 0.9846 | 0.5229 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:17 | HFLGCTWEF | 0.9737 | 0.5828 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A31:08 | HFLGCTWEF | 0.9592 | 0.6673 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A32:13 | ISHFLGCTW | 0.8125 | 0.9946 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:14 | HFLGCTWEF | 0.787 | 0.6524 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B08:09 | SPISHFLGC | 0.3915 | 0.6358 | 6 | 15 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:10 | SHFLGCTWEF | 0.9903 | 0.8833 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:18 | SHFLGCTWEF | 0.9901 | 0.9241 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B39:01 | SHFLGCTWEF | 0.99 | 0.9925 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B38:01 | SHFLGCTWEF | 0.9855 | 0.9978 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B38:02 | SHFLGCTWEF | 0.9854 | 0.9978 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:37 | SHFLGCTWEF | 0.9524 | 0.8958 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:02 | HFLGCTWEF | 0.9918 | 0.6021 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A29:01 | HFLGCTWEF | 0.9846 | 0.5229 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A29:02 | HFLGCTWEF | 0.9846 | 0.5229 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B39:05 | SHFLGCTWEF | 0.9799 | 0.9906 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B38:05 | SHFLGCTW | 0.7847 | 0.9985 | 9 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B57:10 | ISHFLGCTW | 0.9993 | 0.9945 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B57:04 | ISHFLGCTW | 0.9991 | 0.8815 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B58:06 | ISHFLGCTW | 0.9976 | 0.9891 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A24:03 | HFLGCTWEF | 0.9959 | 0.5314 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B57:02 | ISHFLGCTW | 0.9954 | 0.9902 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-A32:01 | ISHFLGCTW | 0.9247 | 0.9954 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:24 | ISHFLGCTW | 0.8484 | 0.9903 | 8 | 17 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-C14:03 | HFLGCTWEF | 0.1914 | 0.9904 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-C14:02 | HFLGCTWEF | 0.1914 | 0.9904 | 10 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B39:31 | SHFLGCTWEF | 0.9901 | 0.9927 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B38:05 | SHFLGCTWEF | 0.9855 | 0.9978 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:09 | SHFLGCTWEF | 0.9545 | 0.9839 | 9 | 19 |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 | HLA-B15:13 | SPISHFLGCTW | 0.9882 | 0.7749 | 6 | 17 |
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Potential FusionNeoAntigen Information of FANCI-ABHD2 in HLA II |
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![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of FANCI-ABHD2 |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
8883 | SPISHFLGCTWEFG | FANCI | ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 1485 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of FANCI-ABHD2 |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
HLA-B14:02 | 3BVN | 8883 | SPISHFLGCTWEFG | -7.9962 | -8.1096 |
HLA-B14:02 | 3BVN | 8883 | SPISHFLGCTWEFG | -5.70842 | -6.74372 |
HLA-B52:01 | 3W39 | 8883 | SPISHFLGCTWEFG | -6.83737 | -6.95077 |
HLA-B52:01 | 3W39 | 8883 | SPISHFLGCTWEFG | -4.4836 | -5.5189 |
HLA-A11:01 | 4UQ2 | 8883 | SPISHFLGCTWEFG | -10.0067 | -10.1201 |
HLA-A11:01 | 4UQ2 | 8883 | SPISHFLGCTWEFG | -9.03915 | -10.0745 |
HLA-A24:02 | 5HGA | 8883 | SPISHFLGCTWEFG | -6.56204 | -6.67544 |
HLA-A24:02 | 5HGA | 8883 | SPISHFLGCTWEFG | -5.42271 | -6.45801 |
HLA-B44:05 | 3DX8 | 8883 | SPISHFLGCTWEFG | -7.85648 | -8.89178 |
HLA-B44:05 | 3DX8 | 8883 | SPISHFLGCTWEFG | -5.3978 | -5.5112 |
HLA-A02:01 | 6TDR | 8883 | SPISHFLGCTWEFG | -3.37154 | -4.40684 |
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Vaccine Design for the FusionNeoAntigens of FANCI-ABHD2 |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 10 | 19 | HFLGCTWEF | ATTTCTTAGGCTGCACGTGGGAATTTG |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 6 | 15 | SPISHFLGC | CTCCCATCAGTCATTTCTTAGGCTGCA |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 6 | 17 | SPISHFLGCTW | CTCCCATCAGTCATTTCTTAGGCTGCACGTGGG |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 8 | 17 | ISHFLGCTW | TCAGTCATTTCTTAGGCTGCACGTGGG |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 9 | 17 | SHFLGCTW | GTCATTTCTTAGGCTGCACGTGGG |
FANCI-ABHD2 | chr15 | 89822005 | chr15 | 89719043 | 9 | 19 | SHFLGCTWEF | GTCATTTCTTAGGCTGCACGTGGGAATTTG |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of FANCI-ABHD2 |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
BLCA | FANCI-ABHD2 | chr15 | 89822005 | ENST00000300027 | chr15 | 89719043 | ENST00000352732 | TCGA-DK-AA6S-01A |
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Potential target of CAR-T therapy development for FANCI-ABHD2 |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to FANCI-ABHD2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to FANCI-ABHD2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |