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in Kim Lab

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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ANKH-DNAH5 (FusionGDB2 ID:HG56172TG1767)

Fusion Gene Summary for ANKH-DNAH5

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKH-DNAH5
Fusion gene ID: hg56172tg1767
HgeneTgene
Gene symbol

ANKH

DNAH5

Gene ID

56172

1767

Gene nameANKH inorganic pyrophosphate transport regulatordynein axonemal heavy chain 5
SynonymsANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1CILD3|DNAHC5|HL1|KTGNR|PCD
Cytomap('ANKH')('DNAH5')

5p15.2

5p15.2

Type of geneprotein-codingprotein-coding
Descriptionprogressive ankylosis protein homologankylosis, progressive homologdynein heavy chain 5, axonemalaxonemal beta dynein heavy chain 5ciliary dynein heavy chain 5dynein, axonemal, heavy polypeptide 5
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000284268, ENST00000503939, 
ENST00000535119, 
Fusion gene scores* DoF score11 X 9 X 4=3969 X 7 X 6=378
# samples 128
** MAII scorelog2(12/396*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/378*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKH [Title/Abstract] AND DNAH5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKH(14871461)-DNAH5(13737604), # samples:3
ANKH(14871461)-DNAH5(13736041), # samples:3
Anticipated loss of major functional domain due to fusion event.ANKH-DNAH5 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.
ANKH-DNAH5 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.
ANKH-DNAH5 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.
ANKH-DNAH5 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.
ANKH-DNAH5 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ANKH-DNAH5 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across ANKH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across DNAH5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-3B-A9HU-01AANKHchr5

14871461

-DNAH5chr5

13736041

-
ChimerDB4SARCTCGA-3B-A9HU-01AANKHchr5

14871461

-DNAH5chr5

13737604

-
ChimerDB4SARCTCGA-DX-A1L0-01AANKHchr5

14871461

-DNAH5chr5

13736041

-
ChimerDB4SARCTCGA-DX-A1L0-01AANKHchr5

14871461

-DNAH5chr5

13737604

-


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Fusion Gene ORF analysis for ANKH-DNAH5

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000284268ENST00000504001ANKHchr5

14871461

-DNAH5chr5

13736041

-
5CDS-intronENST00000284268ENST00000504001ANKHchr5

14871461

-DNAH5chr5

13737604

-
Frame-shiftENST00000284268ENST00000265104ANKHchr5

14871461

-DNAH5chr5

13736041

-
In-frameENST00000284268ENST00000265104ANKHchr5

14871461

-DNAH5chr5

13737604

-
intron-3CDSENST00000503939ENST00000265104ANKHchr5

14871461

-DNAH5chr5

13736041

-
intron-3CDSENST00000503939ENST00000265104ANKHchr5

14871461

-DNAH5chr5

13737604

-
intron-3CDSENST00000535119ENST00000265104ANKHchr5

14871461

-DNAH5chr5

13736041

-
intron-3CDSENST00000535119ENST00000265104ANKHchr5

14871461

-DNAH5chr5

13737604

-
intron-intronENST00000503939ENST00000504001ANKHchr5

14871461

-DNAH5chr5

13736041

-
intron-intronENST00000503939ENST00000504001ANKHchr5

14871461

-DNAH5chr5

13737604

-
intron-intronENST00000535119ENST00000504001ANKHchr5

14871461

-DNAH5chr5

13736041

-
intron-intronENST00000535119ENST00000504001ANKHchr5

14871461

-DNAH5chr5

13737604

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000284268ANKHchr514871461-ENST00000265104DNAH5chr513737604-47444273313090919

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000284268ENST00000265104ANKHchr514871461-DNAH5chr513737604-0.0001356580.99986434

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Fusion Genomic Features for ANKH-DNAH5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for ANKH-DNAH5


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:14871461/chr5:13737604)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464794392_442037374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464794012_422637374625.0RegionAAA 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112107_13132493.0Topological domainExtracellular
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112153_15832493.0Topological domainCytoplasmic
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112180_18932493.0Topological domainExtracellular
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-1121_8532493.0Topological domainCytoplasmic
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112211_32632493.0Topological domainCytoplasmic
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112348_35032493.0Topological domainExtracellular
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112372_40332493.0Topological domainCytoplasmic
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112427_42932493.0Topological domainExtracellular
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112453_49232493.0Topological domainCytoplasmic
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112132_15232493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112159_17932493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112190_21032493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112327_34732493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112351_37132493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112404_42632493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-112430_45232493.0TransmembraneHelical
HgeneANKHchr5:14871461chr5:13737604ENST00000284268-11286_10632493.0TransmembraneHelical
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464791435_146537374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST000002651046479284_30537374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464793195_330237374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464793426_349137374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464793732_381737374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST000002651046479740_82537374625.0Coiled coilOntology_term=ECO:0000255
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464791980_198737374625.0Nucleotide bindingATP
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464792262_226937374625.0Nucleotide bindingATP
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464791942_216437374625.0RegionAAA 1
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464791_194137374625.0RegionStem
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464792224_244337374625.0RegionAAA 2
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464792550_280337374625.0RegionAAA 3
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464792916_317037374625.0RegionAAA 4
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464793185_348237374625.0RegionStalk
TgeneDNAH5chr5:14871461chr5:13737604ENST0000026510464793567_379737374625.0RegionAAA 5


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Fusion Gene Sequence for ANKH-DNAH5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>4479_4479_1_ANKH-DNAH5_ANKH_chr5_14871461_ENST00000284268_DNAH5_chr5_13737604_ENST00000265104_length(transcript)=4744nt_BP=427nt
AGAGCGCTTATAATGGAGCCGCTGTCAGCAGAACCTTCTGCCGCCGCCGCCGCCGCCGCCGTCCCTCCTCTTTTTTTTCCCGGCAGATCT
TTGTTGTGTGGGAGGGCAGCAGGGATGGACTTGAGCTTGCGGATCCCCTGCTAGAGCAGCCGCGCTCGGAGAAGGCGCCGCAGCCGCGAG
GAGGAGCCGCCGCCGCCGCGCCCGAGGCCCCGCCGCCCGCGGCCTCTGTCGGCCCGCGCCCCGCTCGCCCCGTCGCCCCGTCGCCCCTCG
CCTCCCCGCAGAGTCCCCTCGCGGCAGCAGATGTGTGTGGGGTCAGCCCACGGCGGGGACTATGGTGAAATTCCCGGCGCTCACGCACTA
CTGGCCCCTGATCCGGTTCTTGGTGCCCCTGGGCATCACCAACATAGCCATCGACTTCGGGGAGCAGGAATTGGAGAAAGAAAGAACTCA
TCTGATGGAAGATGTAACTGCAAACAAAAGAAGGATGAAGGAACTAGAAGATAACTTGCTTTACCGCCTGACAAGTACCCAGGGGTCCCT
GGTAGAAGATGAAAGTCTCATTGTCGTGCTGAGTAACACAAAAAGGACAGCCGAGGAGGTGACACAGAAGCTAGAAATTTCTGCTGAGAC
AGAAGTTCAAATTAACTCAGCCCGGGAGGAATACAGACCTGTGGCTACGCGGGGCAGCATCCTCTACTTCCTCATTACTGAGATGCGCTT
GGTTAATGAGATGTATCAGACTTCGCTTCGCCAGTTTCTGGGCTTATTTGACCTTTCCTTAGCCAGGTCTGTCAAGAGCCCGATTACAAG
CAAGAGGATTGCTAATATCATCGAGCACATGACCTACGAGGTTTATAAGTATGCTGCCCGAGGGCTGTACGAGGAGCACAAATTCCTGTT
CACCTTGTTGCTTACCCTAAAGATTGACATCCAGAGGAACCGAGTCAAGCATGAAGAGTTTCTCACTCTTATTAAAGGAGGTGCCTCATT
AGACCTTAAAGCTTGTCCTCCAAAACCATCAAAATGGATCCTGGACATAACATGGCTGAATTTGGTGGAACTTAGCAAACTCAGACAGTT
TTCAGATGTCCTTGACCAGATATCGAGAAATGAGAAAATGTGGAAAATTTGGTTTGATAAGGAAAACCCGGAGGAGGAACCTCTTCCAAA
TGCCTATGATAAATCTCTTGACTGCTTCAGACGTCTTCTCCTTATTAGATCCTGGTGTCCTGACAGAACCATCGCCCAGGCCCGCAAGTA
CATCGTGGACTCCATGGGAGAAAAATATGCCGAAGGTGTTATTTTAGACTTGGAGAAGACGTGGGAGGAATCTGATCCACGGACGCCACT
CATCTGTCTCCTGTCTATGGGCTCAGACCCCACAGATTCCATCATTGCCTTGGGGAAGAGATTAAAAATAGAAACCCGTTATGTGTCCAT
GGGCCAGGGCCAGGAAGTCCATGCTCGGAAGCTCTTGCAGCAGACCATGGCGAACGGAGGATGGGCACTTCTGCAGAACTGCCATCTGGG
ACTTGATTTCATGGATGAGCTGATGGACATAATCATAGAAACTGAGCTTGTACATGATGCGTTCCGCCTCTGGATGACCACCGAGGCTCA
TAAGCAGTTTCCCATTACACTCCTTCAGATGTCCATTAAATTTGCCAACGATCCTCCACAAGGACTCCGGGCAGGACTGAAAAGAACATA
TAGTGGTGTCAGCCAAGACCTGCTGGACGTGAGCTCTGGGTCCCAGTGGAAGCCCATGCTGTACGCAGTGGCTTTCCTGCACTCCACTGT
CCAGGAGAGGCGCAAGTTCGGTGCCCTGGGGTGGAATATCCCCTACGAATTTAACCAAGCGGACTTTAATGCCACTGTGCAGTTCATCCA
AAACCACTTGGATGACATGGATGTCAAAAAGGGTGTCTCCTGGACCACCATCCGCTACATGATAGGAGAGATTCAATATGGAGGCAGAGT
CACTGACGACTATGATAAGAGATTGTTGAACACATTTGCTAAGGTTTGGTTCAGTGAAAATATGTTTGGACCAGATTTCAGTTTTTACCA
AGGATACAATATTCCAAAATGCAGCACAGTGGATAACTATCTTCAGTATATCCAGAGTTTGCCTGCCTATGACAGCCCTGAGGTGTTTGG
GCTGCACCCCAATGCTGACATCACCTACCAGAGCAAGCTGGCCAAGGACGTGCTGGACACCATCCTAGGCATCCAACCCAAGGACACCTC
TGGTGGAGGGGATGAGACCCGGGAGGCGGTGGTGGCCCGGCTGGCTGATGATATGCTGGAGAAGCTGCCCCCAGACTATGTCCCCTTTGA
AGTAAAAGAGAGGCTGCAGAAGATGGGGCCATTCCAGCCTATGAACATTTTCCTCAGGCAGGAAATAGACAGAATGCAAAGGGTACTCAG
CCTTGTCCGCAGCACCCTCACTGAGCTGAAACTTGCTATTGATGGCACCATCATCATGAGCGAAAATCTGCGAGATGCATTGGATTGCAT
GTTTGATGCTAGAATCCCTGCTTGGTGGAAAAAAGCTTCTTGGATTTCTAGTACACTGGGTTTCTGGTTTACTGAACTTATAGAAAGAAA
CAGCCAGTTTACCTCGTGGGTTTTCAATGGCCGACCTCACTGCTTTTGGATGACGGGTTTTTTTAACCCCCAGGGATTTTTAACTGCAAT
GCGACAGGAAATAACTCGGGCCAACAAAGGCTGGGCTCTGGACAATATGGTGCTTTGCAATGAAGTCACCAAATGGATGAAGGACGACAT
TTCTGCCCCTCCCACAGAGGGTGTCTATGTCTATGGCTTATATCTTGAAGGTGCTGGCTGGGACAAGAGGAACATGAAACTCATTGAATC
AAAGCCAAAAGTGCTCTTTGAGTTGATGCCTGTCATAAGGATTTATGCAGAAAACAATACTTTACGAGATCCTCGGTTTTACTCCTGTCC
CATCTATAAGAAGCCAGTTCGAACGGACTTGAACTACATTGCCGCTGTGGATCTCAGGACAGCCCAGACCCCTGAACACTGGGTGCTCCG
TGGGGTTGCCCTTCTGTGTGATGTCAAGTAACATGTGGGGAGTGTCCCCACCCAATGCTTTGGAAAATGCAAGATCTAAATTATTGTAAC
CTTTATTTCTGTATGACTGCTGGACAGTGTATGTTAGGTCGTTTATGCAATTAATGAGCTGCATAGGTTTTCCCCACTCCTTAATTGGAT
GCTTATATTTTACTTGTTTCATCATTAGTGACCAATGTCTGAGTTTGTTGAAAATGTTATTTAGTGATATAAAAGTAAATTTACAGCATC
CTAATGAAGTGTGGCCCTCAAATCCACAGTAGTATATTTTCTTCTTACTTCGCTCCGAAGACTGACTAGGGTAAGCAGACAGTATTTCTC
TGGGAGGAATTATTCTTCTGTTAACGTGGCCTGGTAACAGCCAAGTTCTTGAAGGTAACAGGGCAAGTCTGTGCTGATTTTGCTTCTATT
GCCTTTCGTATTTAGGTCAAGTTAAGAGACTTATTTTCAGGGTTTCAAGCAGCCAATTAAAAATACCTTTTAAAAAATAGAAGGAAATAG
AAGAATGGATTAAGAATGTAAATAGAAAATTTATGTAAACATAGAGAATAAACGTAGAACAATGCTTAAGCCTACTTATAATTAATAATG
AAATACTAATTGATAATTCTTATAATAAAAATTAAAGCTAAAAGTAAATGATAGCATGCTCTCAGTAAAACTGATCCACTCACAAATTGC
TGGAGCAATGTAAATCAACCCAACCTTTTTGTAAAATGATTAAATACAGAAAGAGCCATAAAAATATTCACACCCTTGGATCTTTGTTTT
CTCTACATCAAGGAAACAATTTAAAAGACTGAAAACAGTCTATATAAAATTGCATTTAATAACAGAAAAAAATGGAAAAATCATAAATAT
TCAATAGTCAGGCTATGGTTAAGGAAATTAAGAGATATTTGGCAACCATAAAAAACAATTTTGAAGATTCCATAATATGAAATGGTAGAC
CCAGACTGTTAAGTGAAAGATTTAGTTTACAAAATATTGAGCACACTGTGATTATAACAGCAAATATATTTGCATGTGGACAAAGATTAG
ATGGCAAGATAGAAAAATAAGAACAGATGTGATAGCAAGAATTATAGTTGGCTTGAAAAAATGTGATGATCAGGAGAAAAAATAAAAAAA
GGGTAGAAATATTAGACGGTGCGTAGGGACTTTCTATGGACTTTTATTAATTAGGAAACATTATCAAAGGAACTTTTCACGTATTTTTCT
TTAAATTCTGGTTAGATGTTATTAATAATTCTTCATCTAACCTACTGACTAGAAAATATAGTCAGTACTAAATTAGAATTGTGGTTTATA
AACTTTTGGTTAGCTCTGGATCTGTATAACTGCATTTTTTTGGATAAACAGTTTTTGGTAGGTGGATACCGGGAGACAAGTGTGGGTCCC
TCTCACTGGGCTTCATTCTGTGGACCAGGATCATTATTTCATGCTCATGATCATGAGAGTTAGGACTGAGTGGCTCCTGTGACTCCCACC
ATCTTAGATGATACTGTTTTCTTGTGAGTTCTTTCTTTTGGTGTGGATTAGTATATCAGTTGATTTGTGTGAATTGTGGTGAAACAATCA

>4479_4479_1_ANKH-DNAH5_ANKH_chr5_14871461_ENST00000284268_DNAH5_chr5_13737604_ENST00000265104_length(amino acids)=919AA_BP=32
MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQELEKERTHLMEDVTANKRRMKELEDNLLYRLTSTQGSLVEDESLIVVLSNTKRTAEEV
TQKLEISAETEVQINSAREEYRPVATRGSILYFLITEMRLVNEMYQTSLRQFLGLFDLSLARSVKSPITSKRIANIIEHMTYEVYKYAAR
GLYEEHKFLFTLLLTLKIDIQRNRVKHEEFLTLIKGGASLDLKACPPKPSKWILDITWLNLVELSKLRQFSDVLDQISRNEKMWKIWFDK
ENPEEEPLPNAYDKSLDCFRRLLLIRSWCPDRTIAQARKYIVDSMGEKYAEGVILDLEKTWEESDPRTPLICLLSMGSDPTDSIIALGKR
LKIETRYVSMGQGQEVHARKLLQQTMANGGWALLQNCHLGLDFMDELMDIIIETELVHDAFRLWMTTEAHKQFPITLLQMSIKFANDPPQ
GLRAGLKRTYSGVSQDLLDVSSGSQWKPMLYAVAFLHSTVQERRKFGALGWNIPYEFNQADFNATVQFIQNHLDDMDVKKGVSWTTIRYM
IGEIQYGGRVTDDYDKRLLNTFAKVWFSENMFGPDFSFYQGYNIPKCSTVDNYLQYIQSLPAYDSPEVFGLHPNADITYQSKLAKDVLDT
ILGIQPKDTSGGGDETREAVVARLADDMLEKLPPDYVPFEVKERLQKMGPFQPMNIFLRQEIDRMQRVLSLVRSTLTELKLAIDGTIIMS
ENLRDALDCMFDARIPAWWKKASWISSTLGFWFTELIERNSQFTSWVFNGRPHCFWMTGFFNPQGFLTAMRQEITRANKGWALDNMVLCN
EVTKWMKDDISAPPTEGVYVYGLYLEGAGWDKRNMKLIESKPKVLFELMPVIRIYAENNTLRDPRFYSCPIYKKPVRTDLNYIAAVDLRT

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Fusion Gene PPI Analysis for ANKH-DNAH5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ANKH-DNAH5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ANKH-DNAH5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANKHC0856830Calcium pyrophosphate arthropathy5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneANKHC0265292Schwartz-Lelek syndrome3ORPHANET
HgeneANKHC1852502CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneANKHC0014175Endometriosis1CTD_human
HgeneANKHC0040427Tooth Abnormalities1CTD_human
HgeneANKHC0269102Endometrioma1CTD_human
HgeneANKHC0376634Craniofacial Abnormalities1CTD_human
HgeneANKHC0524730Odontome1CTD_human
HgeneANKHC0553730Calcium pyrophosphate deposition disease1ORPHANET
TgeneC1837618CILIARY DYSKINESIA, PRIMARY, 35CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0004096Asthma1CTD_human