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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ANKH-DNAH5

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ANKH-DNAH5
	FusionPDB ID: 4479
	FusionGDB2.0 ID: 4479
		Hgene	Tgene
	Gene symbol	ANKH	DNAH5
	Gene ID	56172	1767
	Gene name	ANKH inorganic pyrophosphate transport regulator	dynein axonemal heavy chain 5
	Synonyms	ANK\|CCAL2\|CMDJ\|CPPDD\|HANK\|MANK\|SLC62A1	CILD3\|DNAHC5\|HL1\|KTGNR\|PCD
	Cytomap	5p15.2	5p15.2
	Type of gene	protein-coding	protein-coding
	Description	progressive ankylosis protein homologankylosis, progressive homolog	dynein heavy chain 5, axonemalaxonemal beta dynein heavy chain 5ciliary dynein heavy chain 5dynein, axonemal, heavy polypeptide 5
	Modification date	20200313	20200327
	UniProtAcc	Q8IWZ3	Q8TE73
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000284268, ENST00000503939, ENST00000535119,	ENST00000504001, ENST00000265104,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	11 X 9 X 4=396	9 X 7 X 6=378
	# samples	12	8
	** MAII score	log2(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 (manual curation of fusion genes in FusionPDB)	PubMed: ANKH [Title/Abstract] AND DNAH5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ANKH(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Fusion 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.

Fusion 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.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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	SARC	TCGA-3B-A9HU-01A	ANKH	chr5	14871461	-	DNAH5	chr5	13736041	-
ChimerDB4	SARC	TCGA-3B-A9HU-01A	ANKH	chr5	14871461	-	DNAH5	chr5	13737604	-
ChimerDB4	SARC	TCGA-DX-A1L0-01A	ANKH	chr5	14871461	-	DNAH5	chr5	13736041	-
ChimerDB4	SARC	TCGA-DX-A1L0-01A	ANKH	chr5	14871461	-	DNAH5	chr5	13737604	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)

ENST00000284268

ANKH

chr5

14871461

ENST00000265104

DNAH5

chr5

13737604

4744

427

331

3090

919

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000284268	ENST00000265104	ANKH	chr5	14871461	-	DNAH5	chr5	13737604	-	0.000135658	0.99986434

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>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 Protein Functional Features

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ANKH Q8IWZ3	DNAH5 Q8TE73
FUNCTION: May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. {ECO:0000269\|PubMed:16098192}.	FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

Retention 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.

- 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

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

4392_4420

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

4012_4226

3737.0

4625.0

Region

AAA 6

- 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

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

107_131

32.0

493.0

Topological domain

Extracellular

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

153_158

32.0

493.0

Topological domain

Cytoplasmic

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

180_189

32.0

493.0

Topological domain

Extracellular

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

1_85

32.0

493.0

Topological domain

Cytoplasmic

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

211_326

32.0

493.0

Topological domain

Cytoplasmic

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

348_350

32.0

493.0

Topological domain

Extracellular

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

372_403

32.0

493.0

Topological domain

Cytoplasmic

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

427_429

32.0

493.0

Topological domain

Extracellular

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

453_492

32.0

493.0

Topological domain

Cytoplasmic

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

132_152

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

159_179

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

190_210

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

327_347

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

351_371

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

404_426

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

430_452

32.0

493.0

Transmembrane

Helical

Hgene

ANKH

chr5:14871461

chr5:13737604

ENST00000284268

86_106

32.0

493.0

Transmembrane

Helical

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

1435_1465

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

284_305

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

3195_3302

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

3426_3491

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

3732_3817

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

740_825

3737.0

4625.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

1980_1987

3737.0

4625.0

Nucleotide binding

ATP

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

2262_2269

3737.0

4625.0

Nucleotide binding

ATP

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

1942_2164

3737.0

4625.0

Region

AAA 1

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

1_1941

3737.0

4625.0

Region

Stem

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

2224_2443

3737.0

4625.0

Region

AAA 2

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

2550_2803

3737.0

4625.0

Region

AAA 3

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

2916_3170

3737.0

4625.0

Region

AAA 4

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

3185_3482

3737.0

4625.0

Region

Stalk

Tgene

DNAH5

chr5:14871461

chr5:13737604

ENST00000265104

3567_3797

3737.0

4625.0

Region

AAA 5

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1714_ANKH_14871461_DNAH5_13737604_ranked_0.pdb	ANKH	14871461	14871461	ENST00000265104	DNAH5	chr5	13737604	-	MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQELEKERTHLMEDVTANKRRMKELEDNLLYRLTSTQGSLVEDESLIVVLSNTKRTAEEV TQKLEISAETEVQINSAREEYRPVATRGSILYFLITEMRLVNEMYQTSLRQFLGLFDLSLARSVKSPITSKRIANIIEHMTYEVYKYAAR GLYEEHKFLFTLLLTLKIDIQRNRVKHEEFLTLIKGGASLDLKACPPKPSKWILDITWLNLVELSKLRQFSDVLDQISRNEKMWKIWFDK ENPEEEPLPNAYDKSLDCFRRLLLIRSWCPDRTIAQARKYIVDSMGEKYAEGVILDLEKTWEESDPRTPLICLLSMGSDPTDSIIALGKR LKIETRYVSMGQGQEVHARKLLQQTMANGGWALLQNCHLGLDFMDELMDIIIETELVHDAFRLWMTTEAHKQFPITLLQMSIKFANDPPQ GLRAGLKRTYSGVSQDLLDVSSGSQWKPMLYAVAFLHSTVQERRKFGALGWNIPYEFNQADFNATVQFIQNHLDDMDVKKGVSWTTIRYM IGEIQYGGRVTDDYDKRLLNTFAKVWFSENMFGPDFSFYQGYNIPKCSTVDNYLQYIQSLPAYDSPEVFGLHPNADITYQSKLAKDVLDT ILGIQPKDTSGGGDETREAVVARLADDMLEKLPPDYVPFEVKERLQKMGPFQPMNIFLRQEIDRMQRVLSLVRSTLTELKLAIDGTIIMS ENLRDALDCMFDARIPAWWKKASWISSTLGFWFTELIERNSQFTSWVFNGRPHCFWMTGFFNPQGFLTAMRQEITRANKGWALDNMVLCN EVTKWMKDDISAPPTEGVYVYGLYLEGAGWDKRNMKLIESKPKVLFELMPVIRIYAENNTLRDPRFYSCPIYKKPVRTDLNYIAAVDLRT	919

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ANKH_pLDDT.png

DNAH5_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ANKH
DNAH5

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to ANKH-DNAH5

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to ANKH-DNAH5

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source