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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:ANKRD27-ATP5C1 (FusionGDB2 ID:HG84079TG509) |
Fusion Gene Summary for ANKRD27-ATP5C1 |
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Fusion gene information | Fusion gene name: ANKRD27-ATP5C1 | Fusion gene ID: hg84079tg509 | Hgene | Tgene | Gene symbol | ANKRD27 | ATP5C1 | Gene ID | 84079 | 509 |
Gene name | ankyrin repeat domain 27 | ATP synthase F1 subunit gamma | |
Synonyms | PP12899|VARP | ATP5C|ATP5C1|ATP5CL1 | |
Cytomap | ('ANKRD27')('ATP5C1') 19q13.11 | 10p14 | |
Type of gene | protein-coding | protein-coding | |
Description | ankyrin repeat domain-containing protein 27VPS9 domain-containing proteinVPS9-ankyrin-repeat proteinVps9 domain and ankyrin-repeat-containing proteinankyrin repeat domain 27 (VPS9 domain) | ATP synthase subunit gamma, mitochondrialATP synthase gamma chain, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1F-ATPase gamma subunitmitochondrial ATP synthase, gamma subunit 1 | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000306065, ENST00000587352, | ||
Fusion gene scores | * DoF score | 14 X 14 X 8=1568 | 11 X 9 X 7=693 |
# samples | 16 | 13 | |
** MAII score | log2(16/1568*10)=-3.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/693*10)=-2.41434372910876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ANKRD27 [Title/Abstract] AND ATP5C1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ANKRD27(33135230)-ATP5C1(7839009), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ANKRD27-ATP5C1 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. ANKRD27-ATP5C1 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 | ANKRD27 | GO:0035544 | negative regulation of SNARE complex assembly | 24856514 |
Hgene | ANKRD27 | GO:0045022 | early endosome to late endosome transport | 16525121 |
Tgene | ATP5C1 | GO:0042776 | mitochondrial ATP synthesis coupled proton transport | 12110673 |
![]() * 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 | OV | TCGA-23-1109 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
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Fusion Gene ORF analysis for ANKRD27-ATP5C1 |
![]() * 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 | ENST00000306065 | ENST00000493053 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
5CDS-3UTR | ENST00000587352 | ENST00000493053 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
5CDS-5UTR | ENST00000306065 | ENST00000335698 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
5CDS-5UTR | ENST00000306065 | ENST00000541227 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
5CDS-5UTR | ENST00000587352 | ENST00000335698 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
5CDS-5UTR | ENST00000587352 | ENST00000541227 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
In-frame | ENST00000306065 | ENST00000356708 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
In-frame | ENST00000587352 | ENST00000356708 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + |
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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) |
ENST00000306065 | ANKRD27 | chr19 | 33135230 | - | ENST00000356708 | ATP5C1 | chr10 | 7839009 | + | 1677 | 684 | 653 | 1489 | 278 |
ENST00000587352 | ANKRD27 | chr19 | 33135230 | - | ENST00000356708 | ATP5C1 | chr10 | 7839009 | + | 1647 | 654 | 623 | 1459 | 278 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000306065 | ENST00000356708 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + | 0.001117538 | 0.9988825 |
ENST00000587352 | ENST00000356708 | ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + | 0.001117878 | 0.9988821 |
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Fusion Genomic Features for ANKRD27-ATP5C1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + | 3.63E-06 | 0.9999964 |
ANKRD27 | chr19 | 33135230 | - | ATP5C1 | chr10 | 7839009 | + | 3.63E-06 | 0.9999964 |
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Fusion Protein Features for ANKRD27-ATP5C1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:33135230/chr10:7839009) - 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 |
. | . |
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: 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 |
- 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 | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 233_371 | 175 | 1051.0 | Domain | VPS9 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 1_372 | 175 | 1051.0 | Region | Sufficient for GEF activity towards RAB21 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 396_426 | 175 | 1051.0 | Repeat | Note=ANK 1 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 462_491 | 175 | 1051.0 | Repeat | Note=ANK 2 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 495_524 | 175 | 1051.0 | Repeat | Note=ANK 3 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 528_560 | 175 | 1051.0 | Repeat | Note=ANK 4 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 564_593 | 175 | 1051.0 | Repeat | Note=ANK 5 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 597_627 | 175 | 1051.0 | Repeat | Note=ANK 6 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 668_698 | 175 | 1051.0 | Repeat | Note=ANK 7 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 743_772 | 175 | 1051.0 | Repeat | Note=ANK 8 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 776_805 | 175 | 1051.0 | Repeat | Note=ANK 9 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 809_838 | 175 | 1051.0 | Repeat | Note=ANK 10 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 842_871 | 175 | 1051.0 | Repeat | Note=ANK 11 |
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Fusion Gene Sequence for ANKRD27-ATP5C1 |
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>4645_4645_1_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000306065_ATP5C1_chr10_7839009_ENST00000356708_length(transcript)=1677nt_BP=684nt GGAGTAAGGGGTGGGCTATAGGGCCAGATCGCCGCGCGAGGGTGGTGGGCATCGAGGTCCCAGCAGCGGACGAGGGAGGTGCCGCCGTCG CCCAGGATGGGCTGGGAATGAAGCGATGTAGCCTTTTAAGAGATTTGCTCTGACCCATCTGAAGTCCATATGGCTCTGTATGATGAAGAC CTCCTGAAAAATCCTTTCTATCTGGCTCTGCAAAAGTGCCGCCCTGACTTGTGCAGCAAAGTGGCCCAAATCCATGGCATTGTCTTAGTA CCCTGCAAAGGAAGCCTGTCGAGCAGCATCCAGTCTACTTGTCAGTTTGAGTCCTACATTTTGATACCTGTGGAAGAGCATTTTCAGACC TTAAATGGAAAGGATGTCTTTATTCAAGGGAACAGGATTAAATTAGGAGCTGGTTTTGCCTGTCTTCTCTCAGTGCCCATTCTCTTTGAA GAAACTTTCTACAATGAAAAAGAAGAGAGTTTCAGCATCCTGTGTATAGCCCATCCTTTGGAAAAGAGAGAGAGTTCAGAAGAGCCTTTG GCACCCTCAGATCCCTTTTCCCTGAAAACCATTGAAGATGTGAGAGAGTTCTTGGGAAGACACTCCGAGCGATTTGACAGGAACATCGCC TCTTTCCATCGAACATTCCGAGAATGCGAGAGAAAGAGCCTCCGTCACCACATATCACCAGGAGACTAAAGTCCATCAAAAACATCCAGA AAATTACCAAGTCTATGAAAATGGTAGCGGCAGCAAAATATGCCCGAGCTGAGAGAGAGCTGAAACCAGCTCGAATATATGGATTGGGAT CTTTAGCTCTGTATGAAAAAGCTGATATCAAGGGGCCTGAAGACAAGAAGAAACACCTCCTTATTGGTGTGTCCTCAGATCGAGGACTGT GTGGTGCTATTCATTCCTCCATTGCTAAACAGATGAAAAGCGAGGTTGCTACACTAACAGCAGCTGGGAAAGAAGTTATGCTTGTTGGAA TTGGTGACAAAATCAGAGGCATACTTTATAGGACTCATTCTGACCAGTTTCTGGTGGCATTCAAAGAAGTGGGAAGAAAGCCCCCCACTT TTGGAGATGCGTCAGTCATTGCCCTTGAATTACTAAATTCTGGATATGAATTTGATGAAGGCTCCATCATCTTTAATAAATTCAGGTCTG TCATCTCCTATAAGACAGAAGAAAAGCCCATCTTTTCCCTTAATACCGTTGCAAGTGCTGACAGCATGAGTATCTATGACGATATTGATG CTGACGTGCTGCAAAATTACCAAGAATACAATCTGGCCAACATCATCTACTACTCTCTGAAGGAGTCCACCACTAGTGAGCAGAGTGCCA GGATGACAGCCATGGACAATGCCAGCAAGAATGCTTCTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCA TCACAAAAGAGTTGATTGAAATTATCTCTGGTGCTGCAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGG AAAATTCAGCCAGTTGATTTTGTTTTTAGCTTACTGCTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCA >4645_4645_1_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000306065_ATP5C1_chr10_7839009_ENST00000356708_length(amino acids)=278AA_BP=11 MREKEPPSPHITRRLKSIKNIQKITKSMKMVAAAKYARAERELKPARIYGLGSLALYEKADIKGPEDKKKHLLIGVSSDRGLCGAIHSSI AKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFLVAFKEVGRKPPTFGDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEE KPIFSLNTVASADSMSIYDDIDADVLQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFNRTRQAVITKELIEI -------------------------------------------------------------- >4645_4645_2_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000587352_ATP5C1_chr10_7839009_ENST00000356708_length(transcript)=1647nt_BP=654nt GCCGCGCGAGGGTGGTGGGCATCGAGGTCCCAGCAGCGGACGAGGGAGGTGCCGCCGTCGCCCAGGATGGGCTGGGAATGAAGCGATGTA GCCTTTTAAGAGATTTGCTCTGACCCATCTGAAGTCCATATGGCTCTGTATGATGAAGACCTCCTGAAAAATCCTTTCTATCTGGCTCTG CAAAAGTGCCGCCCTGACTTGTGCAGCAAAGTGGCCCAAATCCATGGCATTGTCTTAGTACCCTGCAAAGGAAGCCTGTCGAGCAGCATC CAGTCTACTTGTCAGTTTGAGTCCTACATTTTGATACCTGTGGAAGAGCATTTTCAGACCTTAAATGGAAAGGATGTCTTTATTCAAGGG AACAGGATTAAATTAGGAGCTGGTTTTGCCTGTCTTCTCTCAGTGCCCATTCTCTTTGAAGAAACTTTCTACAATGAAAAAGAAGAGAGT TTCAGCATCCTGTGTATAGCCCATCCTTTGGAAAAGAGAGAGAGTTCAGAAGAGCCTTTGGCACCCTCAGATCCCTTTTCCCTGAAAACC ATTGAAGATGTGAGAGAGTTCTTGGGAAGACACTCCGAGCGATTTGACAGGAACATCGCCTCTTTCCATCGAACATTCCGAGAATGCGAG AGAAAGAGCCTCCGTCACCACATATCACCAGGAGACTAAAGTCCATCAAAAACATCCAGAAAATTACCAAGTCTATGAAAATGGTAGCGG CAGCAAAATATGCCCGAGCTGAGAGAGAGCTGAAACCAGCTCGAATATATGGATTGGGATCTTTAGCTCTGTATGAAAAAGCTGATATCA AGGGGCCTGAAGACAAGAAGAAACACCTCCTTATTGGTGTGTCCTCAGATCGAGGACTGTGTGGTGCTATTCATTCCTCCATTGCTAAAC AGATGAAAAGCGAGGTTGCTACACTAACAGCAGCTGGGAAAGAAGTTATGCTTGTTGGAATTGGTGACAAAATCAGAGGCATACTTTATA GGACTCATTCTGACCAGTTTCTGGTGGCATTCAAAGAAGTGGGAAGAAAGCCCCCCACTTTTGGAGATGCGTCAGTCATTGCCCTTGAAT TACTAAATTCTGGATATGAATTTGATGAAGGCTCCATCATCTTTAATAAATTCAGGTCTGTCATCTCCTATAAGACAGAAGAAAAGCCCA TCTTTTCCCTTAATACCGTTGCAAGTGCTGACAGCATGAGTATCTATGACGATATTGATGCTGACGTGCTGCAAAATTACCAAGAATACA ATCTGGCCAACATCATCTACTACTCTCTGAAGGAGTCCACCACTAGTGAGCAGAGTGCCAGGATGACAGCCATGGACAATGCCAGCAAGA ATGCTTCTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCATCACAAAAGAGTTGATTGAAATTATCTCTG GTGCTGCAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGGAAAATTCAGCCAGTTGATTTTGTTTTTAGC TTACTGCTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCAAGATATTTGTAAATTATCTTAAAATAAACA >4645_4645_2_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000587352_ATP5C1_chr10_7839009_ENST00000356708_length(amino acids)=278AA_BP=11 MREKEPPSPHITRRLKSIKNIQKITKSMKMVAAAKYARAERELKPARIYGLGSLALYEKADIKGPEDKKKHLLIGVSSDRGLCGAIHSSI AKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFLVAFKEVGRKPPTFGDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEE KPIFSLNTVASADSMSIYDDIDADVLQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFNRTRQAVITKELIEI -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ANKRD27-ATP5C1 |
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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 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 451_730 | 175.0 | 1051.0 | RAB32 |
Hgene | ANKRD27 | chr19:33135230 | chr10:7839009 | ENST00000306065 | - | 5 | 29 | 451_600 | 175.0 | 1051.0 | RAB38 |
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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 ANKRD27-ATP5C1 |
![]() (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 ANKRD27-ATP5C1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |