UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level2

	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:ANKRD27-ZNF536

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ANKRD27-ZNF536
	FusionPDB ID: 4657
	FusionGDB2.0 ID: 4657
		Hgene	Tgene
	Gene symbol	ANKRD27	ZNF536
	Gene ID	84079	9745
	Gene name	ankyrin repeat domain 27	zinc finger protein 536
	Synonyms	PP12899\|VARP	-
	Cytomap	19q13.11	19q12
	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)	zinc finger protein 536
	Modification date	20200313	20200313
	UniProtAcc	Q96NW4	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000306065, ENST00000587352,	ENST00000590564, ENST00000355537,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	14 X 14 X 8=1568	21 X 13 X 13=3549
	# samples	16	25
	** MAII score	log2(16/1568*10)=-3.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(25/3549*10)=-3.82741257439886 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ANKRD27 [Title/Abstract] AND ZNF536 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ANKRD27(33098541)-ZNF536(31025754), # samples:3
Anticipated loss of major functional domain due to fusion event.	ANKRD27-ZNF536 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-ZNF536 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-ZNF536 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. ANKRD27-ZNF536 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)

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
Hgene	ANKRD27	GO:0035544	negative regulation of SNARE complex assembly	24856514
Hgene	ANKRD27	GO:0045022	early endosome to late endosome transport	16525121
Tgene	ZNF536	GO:0000122	negative regulation of transcription by RNA polymerase II	19398580

Fusion gene breakpoints across ANKRD27 (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 ZNF536 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

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	LUSC	TCGA-37-A5EN-01A	ANKRD27	chr19	33098541	-	ZNF536	chr19	31025754	+
ChimerDB4	LUSC	TCGA-37-A5EN	ANKRD27	chr19	33098541	-	ZNF536	chr19	31025754	+

Top

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)

ENST00000306065

ANKRD27

chr19

33098541

ENST00000355537

ZNF536

chr19

31025754

5160

2532

159

2612

817

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
ENST00000306065	ENST00000355537	ANKRD27	chr19	33098541	-	ZNF536	chr19	31025754	+	0.00332676	0.9966732

Top

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

>4657_4657_1_ANKRD27-ZNF536_ANKRD27_chr19_33098541_ENST00000306065_ZNF536_chr19_31025754_ENST00000355537_length(amino acids)=817AA_BP=790
MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNGKDVFIQGNRIKLGAGFACLL
SVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANA
LYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRE
LAQLNKCTSPQQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIE
YIRQGSLSAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQEDHDKDTVQKMCHPLCFCDDCEKLVSGRLND
PSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVNATDYHGATPLHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYG
HEDCVKALVYYDVESCRLDIGNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQNRLKETPLKCALNSKILSVMEAYHLSFERRQKSSEA
PVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKC
APAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANAGARNADQAVPLHLACQQGHFQTLARRLGDLPASSNQRCFA

--------------------------------------------------------------

Top

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/chr19:33098541/chr19:31025754)
- 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
ANKRD27 Q96NW4	.
FUNCTION: May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). {ECO:0000250\|UniProtKB:Q3UMR0, ECO:0000269\|PubMed:23104059, ECO:0000269\|PubMed:24856514, ECO:0000305\|PubMed:16525121, ECO:0000305\|PubMed:18477474, ECO:0000305\|PubMed:22705394}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

233_371

791.0

1051.0

Domain

VPS9

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

1_372

791.0

1051.0

Region

Sufficient for GEF activity towards RAB21

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

396_426

791.0

1051.0

Repeat

Note=ANK 1

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

462_491

791.0

1051.0

Repeat

Note=ANK 2

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

495_524

791.0

1051.0

Repeat

Note=ANK 3

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

528_560

791.0

1051.0

Repeat

Note=ANK 4

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

564_593

791.0

1051.0

Repeat

Note=ANK 5

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

597_627

791.0

1051.0

Repeat

Note=ANK 6

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

668_698

791.0

1051.0

Repeat

Note=ANK 7

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

743_772

791.0

1051.0

Repeat

Note=ANK 8

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

751_773

723.3333333333334

1301.0

Zinc finger

C2H2-type 8

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

779_801

723.3333333333334

1301.0

Zinc finger

C2H2-type 9

- 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

chr19:33098541

chr19:31025754

ENST00000306065

776_805

791.0

1051.0

Repeat

Note=ANK 9

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

809_838

791.0

1051.0

Repeat

Note=ANK 10

Hgene

ANKRD27

chr19:33098541

chr19:31025754

ENST00000306065

842_871

791.0

1051.0

Repeat

Note=ANK 11

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

130_152

723.3333333333334

1301.0

Zinc finger

C2H2-type 1

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

158_180

723.3333333333334

1301.0

Zinc finger

C2H2-type 2

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

274_297

723.3333333333334

1301.0

Zinc finger

C2H2-type 3

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

300_323

723.3333333333334

1301.0

Zinc finger

C2H2-type 4

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

345_367

723.3333333333334

1301.0

Zinc finger

C2H2-type 5

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

373_395

723.3333333333334

1301.0

Zinc finger

C2H2-type 6

Tgene

ZNF536

chr19:33098541

chr19:31025754

ENST00000355537

631_653

723.3333333333334

1301.0

Zinc finger

C2H2-type 7

Top

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 >>>1596_ANKRD27_33098541_ZNF536_31025754_ranked_0.pdb	ANKRD27	33098541	33098541	ENST00000355537	ZNF536	chr19	31025754	+	MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLSSSIQSTCQFESYILIPVEEHFQTLNGKDVFIQGNRIKLGAGFACLL SVPILFEETFYNEKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFHRTFRECERKSLRHHIDSANA LYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHHEIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRE LAQLNKCTSPQQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSYIKNFRFSSLAKDELGYCLTSFEAAIE YIRQGSLSAKPPESEGFGDRLFLKQRMSLLSQMTSSPTDCLFKHIASGNQKEVERLLSQEDHDKDTVQKMCHPLCFCDDCEKLVSGRLND PSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVNATDYHGATPLHLACQKGYQSVTLLLLHYKASAEVQDNNGNTPLHLACTYG HEDCVKALVYYDVESCRLDIGNEKGDTPLHIAARWGYQGVIETLLQNGASTEIQNRLKETPLKCALNSKILSVMEAYHLSFERRQKSSEA PVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLRAVADGDLEMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKC APAQKRLAKVPASGLGVNVTSQDGSSPLHVAALHGRADLIPLLLKHGANAGARNADQAVPLHLACQQGHFQTLARRLGDLPASSNQRCFA	817

Top

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.

ANKRD27_pLDDT.png

ZNF536_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.

Top

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

Top

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
ANKRD27
ZNF536

- 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

Top

Related Drugs to ANKRD27-ZNF536

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to ANKRD27-ZNF536

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