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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:ATP6V0A2-RBCK1 (FusionGDB2 ID:HG23545TG10616) |
Fusion Gene Summary for ATP6V0A2-RBCK1 |
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Fusion gene information | Fusion gene name: ATP6V0A2-RBCK1 | Fusion gene ID: hg23545tg10616 | Hgene | Tgene | Gene symbol | ATP6V0A2 | RBCK1 | Gene ID | 23545 | 10616 |
Gene name | ATPase H+ transporting V0 subunit a2 | RANBP2-type and C3HC4-type zinc finger containing 1 | |
Synonyms | A2|ARCL|ARCL2A|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSS | C20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4 | |
Cytomap | ('ATP6V0A2')('RBCK1') 12q24.31 | 20p13 | |
Type of gene | protein-coding | protein-coding | |
Description | V-type proton ATPase 116 kDa subunit a isoform 2V-type proton ATPase 116 kDa subunit aA2V-ATPaseATPase, H+ transporting, lysosomal V0 subunit a2lysosomal H(+)-transporting ATPase V0 subunit a2regeneration and tolerance factorv-ATPase 116 kDav-type | ranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated pro | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | Q9Y487 | . | |
Ensembl transtripts involved in fusion gene | ENST00000330342, ENST00000543687, ENST00000544833, | ||
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 5 X 2=60 |
# samples | 3 | 8 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/60*10)=0.415037499278844 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ATP6V0A2 [Title/Abstract] AND RBCK1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATP6V0A2(124221818)-RBCK1(407957), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ATP6V0A2-RBCK1 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. ATP6V0A2-RBCK1 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. ATP6V0A2-RBCK1 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. ATP6V0A2-RBCK1 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 |
Tgene | RBCK1 | GO:0000209 | protein polyubiquitination | 12629548|17006537 |
Tgene | RBCK1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 17449468 |
Tgene | RBCK1 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 19136968|21455173 |
Tgene | RBCK1 | GO:0050852 | T cell receptor signaling pathway | 20005846 |
Tgene | RBCK1 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 19136968 |
Tgene | RBCK1 | GO:0097039 | protein linear polyubiquitination | 21455173|21455180|21455181|23453807 |
![]() * 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 | STAD | TCGA-D7-5577-01A | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
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Fusion Gene ORF analysis for ATP6V0A2-RBCK1 |
![]() * 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-intron | ENST00000330342 | ENST00000400245 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
5CDS-intron | ENST00000330342 | ENST00000400247 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
5CDS-intron | ENST00000330342 | ENST00000475269 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
In-frame | ENST00000330342 | ENST00000353660 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
In-frame | ENST00000330342 | ENST00000356286 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
In-frame | ENST00000330342 | ENST00000382181 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-3CDS | ENST00000543687 | ENST00000353660 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-3CDS | ENST00000543687 | ENST00000356286 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-3CDS | ENST00000543687 | ENST00000382181 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-3CDS | ENST00000544833 | ENST00000353660 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-3CDS | ENST00000544833 | ENST00000356286 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-3CDS | ENST00000544833 | ENST00000382181 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-intron | ENST00000543687 | ENST00000400245 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-intron | ENST00000543687 | ENST00000400247 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-intron | ENST00000543687 | ENST00000475269 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-intron | ENST00000544833 | ENST00000400245 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-intron | ENST00000544833 | ENST00000400247 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
intron-intron | ENST00000544833 | ENST00000475269 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + |
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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) |
ENST00000330342 | ATP6V0A2 | chr12 | 124221818 | + | ENST00000356286 | RBCK1 | chr20 | 407957 | + | 2326 | 1286 | 248 | 1789 | 513 |
ENST00000330342 | ATP6V0A2 | chr12 | 124221818 | + | ENST00000353660 | RBCK1 | chr20 | 407957 | + | 2326 | 1286 | 248 | 1789 | 513 |
ENST00000330342 | ATP6V0A2 | chr12 | 124221818 | + | ENST00000382181 | RBCK1 | chr20 | 407957 | + | 2326 | 1286 | 248 | 1789 | 513 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000330342 | ENST00000356286 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + | 0.002582075 | 0.9974179 |
ENST00000330342 | ENST00000353660 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + | 0.002582075 | 0.9974179 |
ENST00000330342 | ENST00000382181 | ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407957 | + | 0.002582075 | 0.9974179 |
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Fusion Genomic Features for ATP6V0A2-RBCK1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407956 | + | 1.28E-08 | 1 |
ATP6V0A2 | chr12 | 124221818 | + | RBCK1 | chr20 | 407956 | + | 1.28E-08 | 1 |
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Fusion Protein Features for ATP6V0A2-RBCK1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:124221818/chr20:407957) - 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 |
ATP6V0A2 | . |
FUNCTION: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). {ECO:0000269|PubMed:16415858, ECO:0000269|PubMed:18157129, ECO:0000269|PubMed:28296633}. | 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}. |
![]() * 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 |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 351_411 | 301 | 469.0 | Zinc finger | IBR-type | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 447_476 | 301 | 469.0 | Zinc finger | RING-type 2%3B atypical | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 351_411 | 343 | 511.0 | Zinc finger | IBR-type | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 447_476 | 343 | 511.0 | Zinc finger | RING-type 2%3B atypical |
- 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 | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 1_393 | 346 | 857.0 | Topological domain | Cytoplasmic |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 413_414 | 346 | 857.0 | Topological domain | Vacuolar |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 432_445 | 346 | 857.0 | Topological domain | Cytoplasmic |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 476_549 | 346 | 857.0 | Topological domain | Vacuolar |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 570_587 | 346 | 857.0 | Topological domain | Cytoplasmic |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 609_651 | 346 | 857.0 | Topological domain | Vacuolar |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 672_739 | 346 | 857.0 | Topological domain | Cytoplasmic |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 765_785 | 346 | 857.0 | Topological domain | Vacuolar |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 825_856 | 346 | 857.0 | Topological domain | Cytoplasmic |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 394_412 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 415_431 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 446_475 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 550_569 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 588_608 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 652_671 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 740_764 | 346 | 857.0 | Transmembrane | Helical |
Hgene | ATP6V0A2 | chr12:124221818 | chr20:407957 | ENST00000330342 | + | 9 | 20 | 786_824 | 346 | 857.0 | Transmembrane | Helical |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 233_261 | 301 | 469.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 233_261 | 343 | 511.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 55_119 | 301 | 469.0 | Domain | Ubiquitin-like | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 55_119 | 343 | 511.0 | Domain | Ubiquitin-like | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 278_506 | 301 | 469.0 | Region | TRIAD supradomain | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 278_506 | 343 | 511.0 | Region | TRIAD supradomain | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 193_222 | 301 | 469.0 | Zinc finger | RanBP2-type | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 282_332 | 301 | 469.0 | Zinc finger | RING-type 1 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 193_222 | 343 | 511.0 | Zinc finger | RanBP2-type | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 282_332 | 343 | 511.0 | Zinc finger | RING-type 1 |
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Fusion Gene Sequence for ATP6V0A2-RBCK1 |
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>8102_8102_1_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000353660_length(transcript)=2326nt_BP=1286nt GGGGGCGGAACCGGAACCGGCAGTGGCTTGGGGGCGGGACCTCGCGGACTGCTGTGGCGGCAGCTGGAGCGGCGGCCGCGGTGGCAGAAC CGGGGGCGGCCGCTGCAGTCTGGAGCCCCATAGTGCGGGGCCGCGGCCAGGCCACAGGAAGAGCTCGAGGCCCGGGCCGCACCGGCTGAG TGTGCGGGCCCGCGCGGCTCGGAGCCGCCGCCGCCCATCGAGCCCCTCCGGGCGCGGGTCGGCCCGCCATGGGGTCCCTGTTCCGGAGCG AGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCC GAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATT TGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGC AGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGT ACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAACGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTG ATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTTGTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCAT TTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACAGGGG AAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTACCACTGCC ACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGC ACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCA TCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACC TGCGCCGGGCACTGGAGGAGGGCTCGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCA GTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTT TCCACGTCAACTGCCTGCTCTGCAAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACG ATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTAC AGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGG GCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATG GTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGT TGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCT CTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCC ATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCT CTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACA >8102_8102_1_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000353660_length(amino acids)=513AA_BP=346 MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC -------------------------------------------------------------- >8102_8102_2_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000356286_length(transcript)=2326nt_BP=1286nt GGGGGCGGAACCGGAACCGGCAGTGGCTTGGGGGCGGGACCTCGCGGACTGCTGTGGCGGCAGCTGGAGCGGCGGCCGCGGTGGCAGAAC CGGGGGCGGCCGCTGCAGTCTGGAGCCCCATAGTGCGGGGCCGCGGCCAGGCCACAGGAAGAGCTCGAGGCCCGGGCCGCACCGGCTGAG TGTGCGGGCCCGCGCGGCTCGGAGCCGCCGCCGCCCATCGAGCCCCTCCGGGCGCGGGTCGGCCCGCCATGGGGTCCCTGTTCCGGAGCG AGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCC GAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATT TGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGC AGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGT ACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAACGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTG ATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTTGTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCAT TTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACAGGGG AAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTACCACTGCC ACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGC ACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCA TCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACC TGCGCCGGGCACTGGAGGAGGGCTCGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCA GTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTT TCCACGTCAACTGCCTGCTCTGCAAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACG ATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTAC AGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGG GCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATG GTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGT TGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCT CTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCC ATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCT CTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACA >8102_8102_2_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000356286_length(amino acids)=513AA_BP=346 MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC -------------------------------------------------------------- >8102_8102_3_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000382181_length(transcript)=2326nt_BP=1286nt GGGGGCGGAACCGGAACCGGCAGTGGCTTGGGGGCGGGACCTCGCGGACTGCTGTGGCGGCAGCTGGAGCGGCGGCCGCGGTGGCAGAAC CGGGGGCGGCCGCTGCAGTCTGGAGCCCCATAGTGCGGGGCCGCGGCCAGGCCACAGGAAGAGCTCGAGGCCCGGGCCGCACCGGCTGAG TGTGCGGGCCCGCGCGGCTCGGAGCCGCCGCCGCCCATCGAGCCCCTCCGGGCGCGGGTCGGCCCGCCATGGGGTCCCTGTTCCGGAGCG AGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCC GAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATT TGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGC AGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGT ACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAACGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTG ATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTTGTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCAT TTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACAGGGG AAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTACCACTGCC ACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGC ACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCA TCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACC TGCGCCGGGCACTGGAGGAGGGCTCGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCA GTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTT TCCACGTCAACTGCCTGCTCTGCAAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACG ATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTAC AGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGG GCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATG GTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGT TGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCT CTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCC ATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCT CTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACA >8102_8102_3_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000382181_length(amino acids)=513AA_BP=346 MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ATP6V0A2-RBCK1 |
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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 |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 1_220 | 301.0 | 469.0 | IRF3 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 1_220 | 343.0 | 511.0 | IRF3 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 69_131 | 301.0 | 469.0 | RNF31 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 69_131 | 343.0 | 511.0 | RNF31 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000353660 | 6 | 11 | 1_270 | 301.0 | 469.0 | TAB2 | |
Tgene | RBCK1 | chr12:124221818 | chr20:407957 | ENST00000356286 | 7 | 12 | 1_270 | 343.0 | 511.0 | TAB2 |
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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 ATP6V0A2-RBCK1 |
![]() (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 ATP6V0A2-RBCK1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP6V0A2 | C0268355 | Cutis Laxa, Autosomal Recessive, Type IIA | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATP6V0A2 | C0406587 | Wrinkly skin syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATP6V0A2 | C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | 2 | ORPHANET |
Hgene | ATP6V0A2 | C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | 2 | ORPHANET |
Tgene | C4014605 | POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | 5 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C4751567 | Polyglucosan body myopathy type 1 | 2 | ORPHANET | |
Tgene | C0018800 | Cardiomegaly | 1 | CTD_human | |
Tgene | C1383860 | Cardiac Hypertrophy | 1 | CTD_human |