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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:ANKRD12-EPB41L3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ANKRD12-EPB41L3
	FusionPDB ID: 4574
	FusionGDB2.0 ID: 4574
		Hgene	Tgene
	Gene symbol	ANKRD12	EPB41L3
	Gene ID	23253	23136
	Gene name	ankyrin repeat domain 12	erythrocyte membrane protein band 4.1 like 3
	Synonyms	ANCO-2\|ANCO1\|GAC-1\|Nbla00144	4.1B\|DAL-1\|DAL1
	Cytomap	18p11.22	18p11.31
	Type of gene	protein-coding	protein-coding
	Description	ankyrin repeat domain-containing protein 12ankyrin repeat-containing cofactor 2	band 4.1-like protein 3differentially expressed in adenocarcinoma of the lung protein 1
	Modification date	20200313	20200320
	UniProtAcc	Q6UB98	Q9Y2J2
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000540578, ENST00000262126, ENST00000383440, ENST00000400020,	ENST00000341928, ENST00000342933, ENST00000400111, ENST00000540638, ENST00000544123, ENST00000427684, ENST00000542146, ENST00000542652,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	17 X 12 X 9=1836	4 X 4 X 4=64
	# samples	21	4
	** MAII score	log2(21/1836*10)=-3.12810482574769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ANKRD12 [Title/Abstract] AND EPB41L3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ANKRD12(9182517)-EPB41L3(5489160), # samples:3
Anticipated loss of major functional domain due to fusion event.	ANKRD12-EPB41L3 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. ANKRD12-EPB41L3 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. ANKRD12-EPB41L3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ANKRD12-EPB41L3 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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 ANKRD12 (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 EPB41L3 (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	LUSC	TCGA-77-7141-01A	ANKRD12	chr18	9182517	-	EPB41L3	chr18	5489160	-
ChimerDB4	LUSC	TCGA-77-7141-01A	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-
ChimerDB4	LUSC	TCGA-77-7141	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-

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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)
ENST00000383440	ANKRD12	chr18	9182517	+	ENST00000341928	EPB41L3	chr18	5489160	-	4687	344	1655	3256	533
ENST00000383440	ANKRD12	chr18	9182517	+	ENST00000540638	EPB41L3	chr18	5489160	-	3312	344	946	1782	278
ENST00000262126	ANKRD12	chr18	9182517	+	ENST00000341928	EPB41L3	chr18	5489160	-	4670	327	1638	3239	533
ENST00000262126	ANKRD12	chr18	9182517	+	ENST00000540638	EPB41L3	chr18	5489160	-	3295	327	929	1765	278
ENST00000400020	ANKRD12	chr18	9182517	+	ENST00000341928	EPB41L3	chr18	5489160	-	4792	449	1760	3361	533
ENST00000400020	ANKRD12	chr18	9182517	+	ENST00000540638	EPB41L3	chr18	5489160	-	3417	449	1051	1887	278

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
ENST00000383440	ENST00000341928	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-	0.001485505	0.9985145
ENST00000383440	ENST00000540638	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-	0.003765795	0.99623424
ENST00000262126	ENST00000341928	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-	0.001443268	0.9985567
ENST00000262126	ENST00000540638	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-	0.003724592	0.9962754
ENST00000400020	ENST00000341928	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-	0.001027706	0.9989723
ENST00000400020	ENST00000540638	ANKRD12	chr18	9182517	+	EPB41L3	chr18	5489160	-	0.003213222	0.99678683

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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

>4574_4574_1_ANKRD12-EPB41L3_ANKRD12_chr18_9182517_ENST00000262126_EPB41L3_chr18_5489160_ENST00000341928_length(amino acids)=533AA_BP=
MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH
LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA
IHISETLEQKPHFETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNE
WEKRLSTSPVRLAARQEDAPMIEPLVPEESDQEEDAELKAQTDSERTDTAADGETTATESPGLGTDSCPLSPPSTHCAPTSPTELRRRCK
ENDCKLPGYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLLDDDGYLSFPNLSETNLLPQSLQH

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

>4574_4574_2_ANKRD12-EPB41L3_ANKRD12_chr18_9182517_ENST00000262126_EPB41L3_chr18_5489160_ENST00000540638_length(amino acids)=278AA_BP=
MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH
LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA
IHISETLEQKPHFEELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNEWEKRLSTSPVRLAARQEDAPMIEPLVPEETDSERTDTAADG

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

>4574_4574_3_ANKRD12-EPB41L3_ANKRD12_chr18_9182517_ENST00000383440_EPB41L3_chr18_5489160_ENST00000341928_length(amino acids)=533AA_BP=
MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH
LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA
IHISETLEQKPHFETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNE
WEKRLSTSPVRLAARQEDAPMIEPLVPEESDQEEDAELKAQTDSERTDTAADGETTATESPGLGTDSCPLSPPSTHCAPTSPTELRRRCK
ENDCKLPGYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLLDDDGYLSFPNLSETNLLPQSLQH

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

>4574_4574_4_ANKRD12-EPB41L3_ANKRD12_chr18_9182517_ENST00000383440_EPB41L3_chr18_5489160_ENST00000540638_length(amino acids)=278AA_BP=
MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH
LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA
IHISETLEQKPHFEELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNEWEKRLSTSPVRLAARQEDAPMIEPLVPEETDSERTDTAADG

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

>4574_4574_5_ANKRD12-EPB41L3_ANKRD12_chr18_9182517_ENST00000400020_EPB41L3_chr18_5489160_ENST00000341928_length(amino acids)=533AA_BP=
MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH
LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA
IHISETLEQKPHFETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNE
WEKRLSTSPVRLAARQEDAPMIEPLVPEESDQEEDAELKAQTDSERTDTAADGETTATESPGLGTDSCPLSPPSTHCAPTSPTELRRRCK
ENDCKLPGYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLLDDDGYLSFPNLSETNLLPQSLQH

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

>4574_4574_6_ANKRD12-EPB41L3_ANKRD12_chr18_9182517_ENST00000400020_EPB41L3_chr18_5489160_ENST00000540638_length(amino acids)=278AA_BP=
MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH
LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA
IHISETLEQKPHFEELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNEWEKRLSTSPVRLAARQEDAPMIEPLVPEETDSERTDTAADG

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

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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/chr18:9182517/chr18:5489160)
- 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
ANKRD12 Q6UB98	EPB41L3 Q9Y2J2
FUNCTION: May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.	FUNCTION: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5. {ECO:0000269\|PubMed:15334060, ECO:0000269\|PubMed:15737618, ECO:0000269\|PubMed:16420693, ECO:0000269\|PubMed:9892180}.

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

EPB41L3

chr18:9182517

chr18:5489160

ENST00000341928

110_391

1317.3333333333333

Domain

FERM

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000342933

110_391

1088.0

Domain

FERM

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000400111

110_391

866.0

Domain

FERM

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000540638

110_391

846.0

Domain

FERM

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000341928

394_513

1317.3333333333333

Region

Note=Hydrophilic

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000341928

514_860

1317.3333333333333

Region

Spectrin--actin-binding

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000341928

861_1083

1317.3333333333333

Region

Note=C-terminal (CTD)

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000342933

394_513

1088.0

Region

Note=Hydrophilic

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000342933

514_860

1088.0

Region

Spectrin--actin-binding

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000342933

861_1083

1088.0

Region

Note=C-terminal (CTD)

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000400111

394_513

866.0

Region

Note=Hydrophilic

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000400111

514_860

866.0

Region

Spectrin--actin-binding

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000400111

861_1083

866.0

Region

Note=C-terminal (CTD)

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000540638

394_513

846.0

Region

Note=Hydrophilic

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000540638

514_860

846.0

Region

Spectrin--actin-binding

Tgene

EPB41L3

chr18:9182517

chr18:5489160

ENST00000540638

861_1083

846.0

Region

Note=C-terminal (CTD)

- 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

ANKRD12

chr18:9182517

chr18:5489160

ENST00000262126

184_213

29.0

2063.0

Repeat

Note=ANK 1

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000262126

217_246

29.0

2063.0

Repeat

Note=ANK 2

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000262126

250_280

29.0

2063.0

Repeat

Note=ANK 3

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000383440

184_213

29.0

2040.0

Repeat

Note=ANK 1

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000383440

217_246

29.0

2040.0

Repeat

Note=ANK 2

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000383440

250_280

29.0

2040.0

Repeat

Note=ANK 3

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000400020

184_213

29.0

2040.0

Repeat

Note=ANK 1

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000400020

217_246

29.0

2040.0

Repeat

Note=ANK 2

Hgene

ANKRD12

chr18:9182517

chr18:5489160

ENST00000400020

250_280

29.0

2040.0

Repeat

Note=ANK 3

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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 >>>1140_ANKRD12_9182517_EPB41L3_5489160_1140_ANKRD12_9182517_EPB41L3_5489160_ranked_0.pdb	ANKRD12	9182517	9182517	ENST00000540638	EPB41L3	chr18	5489160	-	MEPGVLMSAQTITSETTSTTTTTHITKSSTVKTETISFGSVSPGGVKLEISTKEVPVVHTETKTITYESSQKMETKTESSGIETEPTVHH LPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEGAKEEGGEEVAKAVLEQEETAAASRERQEEQSAA IHISETLEQKPHFETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQELEKTQDDLMKHQTNISELKRTFLETSTDTAVTNE WEKRLSTSPVRLAARQEDAPMIEPLVPEESDQEEDAELKAQTDSERTDTAADGETTATESPGLGTDSCPLSPPSTHCAPTSPTELRRRCK ENDCKLPGYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLLDDDGYLSFPNLSETNLLPQSLQH	533

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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.

ANKRD12_pLDDT.png

EPB41L3_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
ANKRD12
EPB41L3

- 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 ANKRD12-EPB41L3

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 ANKRD12-EPB41L3

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