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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:NUBPL-ANKRD46 (FusionGDB2 ID:60741)

Fusion Gene Summary for NUBPL-ANKRD46

Fusion gene summary

Fusion gene information	Fusion gene name: NUBPL-ANKRD46
	Fusion gene ID: 60741
		Hgene	Tgene
	Gene symbol	NUBPL	ANKRD46
	Gene ID	80224	157567
	Gene name	nucleotide binding protein like	ankyrin repeat domain 46
	Synonyms	C14orf127\|IND1\|MC1DN21\|huInd1	ANK-S\|GENX-115279
	Cytomap	14q12	8q22.3
	Type of gene	protein-coding	protein-coding
	Description	iron-sulfur protein NUBPLIND1 homologiron-sulfur protein required for NADH dehydrogenase	ankyrin repeat domain-containing protein 46ankyrin repeat small protein
	Modification date	20200313	20200313
	UniProtAcc	.	Q86W74
	Ensembl transtripts involved in fusion gene	ENST00000418681, ENST00000281081, ENST00000536705,	ENST00000520552, ENST00000335659, ENST00000519316, ENST00000519597, ENST00000520311, ENST00000524319,
Fusion gene scores	* DoF score	10 X 8 X 6=480	7 X 6 X 7=294
	# samples	10	11
	** MAII score	log2(10/480*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/294*10)=-1.4183126313117 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: NUBPL [Title/Abstract] AND ANKRD46 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	NUBPL(32257079)-ANKRD46(101522867), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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 NUBPL (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 ANKRD46 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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	BRCA	TCGA-AR-A0TT-01A	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-

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Fusion Gene ORF analysis for NUBPL-ANKRD46

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
3UTR-3CDS	ENST00000418681	ENST00000520552	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
3UTR-intron	ENST00000418681	ENST00000335659	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
3UTR-intron	ENST00000418681	ENST00000519316	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
3UTR-intron	ENST00000418681	ENST00000519597	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
3UTR-intron	ENST00000418681	ENST00000520311	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
3UTR-intron	ENST00000418681	ENST00000524319	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000281081	ENST00000335659	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000281081	ENST00000519316	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000281081	ENST00000519597	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000281081	ENST00000520311	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000281081	ENST00000524319	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000536705	ENST00000335659	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000536705	ENST00000519316	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000536705	ENST00000519597	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000536705	ENST00000520311	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
5CDS-intron	ENST00000536705	ENST00000524319	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
In-frame	ENST00000281081	ENST00000520552	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-
In-frame	ENST00000536705	ENST00000520552	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)
ENST00000281081	NUBPL	chr14	32257079	-	ENST00000520552	ANKRD46	chr8	101522867	-	1540	652	45	851	268
ENST00000536705	NUBPL	chr14	32257079	-	ENST00000520552	ANKRD46	chr8	101522867	-	1207	319	0	518	172

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
ENST00000281081	ENST00000520552	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-	0.020823644	0.9791764
ENST00000536705	ENST00000520552	NUBPL	chr14	32257079	-	ANKRD46	chr8	101522867	-	0.008083267	0.9919167

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Fusion Genomic Features for NUBPL-ANKRD46

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for NUBPL-ANKRD46

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:32257079/chr8:101522867)
- 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
.	ANKRD46 Q86W74
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}.

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.

- 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

Hgene

NUBPL

chr14:32257079

chr8:101522867

ENST00000281081

75_82

202

320.0

Nucleotide binding

ATP

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000335659

107_138

229.0

Repeat

Note=ANK 4

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000335659

11_40

229.0

Repeat

Note=ANK 1

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000335659

44_73

229.0

Repeat

Note=ANK 2

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000335659

77_103

229.0

Repeat

Note=ANK 3

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000519597

107_138

229.0

Repeat

Note=ANK 4

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000519597

11_40

229.0

Repeat

Note=ANK 1

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000519597

44_73

229.0

Repeat

Note=ANK 2

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000519597

77_103

229.0

Repeat

Note=ANK 3

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520311

107_138

229.0

Repeat

Note=ANK 4

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520311

11_40

229.0

Repeat

Note=ANK 1

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520311

44_73

229.0

Repeat

Note=ANK 2

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520311

77_103

229.0

Repeat

Note=ANK 3

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000335659

190_210

229.0

Transmembrane

Helical

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000519597

190_210

229.0

Transmembrane

Helical

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520311

190_210

229.0

Transmembrane

Helical

- 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

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520552

107_138

212

233.0

Repeat

Note=ANK 4

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520552

11_40

212

233.0

Repeat

Note=ANK 1

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520552

44_73

212

233.0

Repeat

Note=ANK 2

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520552

77_103

212

233.0

Repeat

Note=ANK 3

Tgene

ANKRD46

chr14:32257079

chr8:101522867

ENST00000520552

190_210

212

233.0

Transmembrane

Helical

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Fusion Gene Sequence for NUBPL-ANKRD46

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.

>60741_60741_1_NUBPL-ANKRD46_NUBPL_chr14_32257079_ENST00000281081_ANKRD46_chr8_101522867_ENST00000520552_length(transcript)=1540nt_BP=652nt
ACCCGCGACAGTTTCCCAGCAGGGCTCACAGCAGCGTTCCGCGTCATGGGGATTTGGCAGCGTCTGCTGCTTTTTGGTGGGGTGTCGCTC
CGGGCTGGTGGCGGGGCCACTGCCCCGCTTGGGGGAAGCCGAGCGATGGTTTGTGGGCGCCAGTTGTCTGGCGCCGGGAGTGAGACCCTA
AAACAAAGAAGAACACAAATCATGTCCCGAGGACTTCCAAAGCAGAAACCGATAGAAGGTGTTAAACAAGTTATAGTTGTGGCTTCTGGA
AAGGGTGGAGTCGGAAAATCTACTACAGCAGTGAATCTTGCACTTGCACTAGCAGCGAACGATTCGTCCAAGGCCATTGGTTTGCTAGAT
GTGGATGTGTATGGACCTTCAGTTCCAAAGATGATGAATCTGAAAGGAAATCCGGAATTATCACAGAGCAACCTAATGAGGCCTCTCTTG
AATTATGGTATTGCTTGTATGTCTATGGGCTTTCTGGTTGAAGAAAGTGAACCAGTAGTTTGGAGAGGCCTTATGGTAATGTCGGCCATT
GAGAAATTGTTGAGGCAGGTAGATTGGGGTCAACTGGACTACTTAGTTGTAGACATGCCACCAGGAACTGGAGATGTGCAGTTATCAGTC
TCACAGAATATTCCTATAACAGAGAAGGACACTGAGGCTTGGAAGCTTTGCAAGGCAAGACAGAAGCCGAATCCAGGCCATCTAATCTCT
AGGTCAGTGTCCTGTGCTCCTGAGCCTCAGAAGGCAAGAAAGAAGGGATACAGACGTCAGCGTCCCTGTTGGGTGGGGCTGTTTCCGTCA
CGACTTGTGTCATGGAGCATCATCTCAAAGCTCTGCAGTTAGGAGGCAGAGGGACCTGCTACCACCTGTCCCCTCCTCTCCAGTCCTGCC
CTGCAGGCAGCCCGGGCACCTGCTGTCTTCCTGGCCTCCCAGATCCTCAAGATGGAGCTCCAGGAACCATCCCCTCCTCCGCCCGGGCAG
GATGCCACCTCCACAAGGCAAATCACATCCATTTGATCTTGAACAAAAGGCTGCCGTGGTGTCTGAAATGACAACTCCCAGGCGGGTGAT
GTCATGCTGTTTTGTTTGTCTCCATGGACTGTGGGGATCCAATTTCAGTTGTGAAGAAAACGGTCTGGGGAAAAAAGTTACTTCATTCGG
AAAATTCCGAGAAGCCATAAATACAGTTTGCAGCTGAGGAAAGCACTTTCACACTCAGACAATGGATTTGGGTGGAAGAAAAGACTTCCC
GCCCCTAAGGCTGAGCCCCTTCACTCCCACCCATGGCCACCGGCAGCCCGCTTCTGCCAGCAGATAGATGTGTGCATGGCTCTGGCAAGA
TCTCAAGCAACCCCCCTTCCCCAAGGAGACTCTCCGTGACCCAGTGGCAAGTTGGCAGGGGATGTGTTTTCCCTGGTTCTCATCCTAAAT
TGTCTCCTGCCCAGAGTCCATCCCTGAAGTATCAGGCACTTCCCTCTCGTAAATGGTTGACCTGCATCTCTGAGCTGCTGTTAAAGCAAA

>60741_60741_1_NUBPL-ANKRD46_NUBPL_chr14_32257079_ENST00000281081_ANKRD46_chr8_101522867_ENST00000520552_length(amino acids)=268AA_BP=201
MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSETLKQRRTQIMSRGLPKQKPIEGVKQVIVVASGKGGVGKSTTAVNLAL
ALAANDSSKAIGLLDVDVYGPSVPKMMNLKGNPELSQSNLMRPLLNYGIACMSMGFLVEESEPVVWRGLMVMSAIEKLLRQVDWGQLDYL

--------------------------------------------------------------
>60741_60741_2_NUBPL-ANKRD46_NUBPL_chr14_32257079_ENST00000536705_ANKRD46_chr8_101522867_ENST00000520552_length(transcript)=1207nt_BP=319nt
ATGTCCAAGGCCATTGGTTTGCTAGATGTGGATGTGTATGGACCTTCAGTTCCAAAGATGATGAATCTGAAAGGAAATCCGGAATTATCA
CAGAGCAACCTAATGAGGCCTCTCTTGAATTATGGTATTGCTTGTATGTCTATGGGCTTTCTGGTTGAAGAAAGTGAACCAGTAGTTTGG
AGAGGCCTTATGGTAATGTCGGCCATTGAGAAATTGTTGAGGCAGGTAGATTGGGGTCAACTGGACTACTTAGTTGTAGACATGCCACCA
GGAACTGGAGATGTGCAGTTATCAGTCTCACAGAATATTCCTATAACAGAGAAGGACACTGAGGCTTGGAAGCTTTGCAAGGCAAGACAG
AAGCCGAATCCAGGCCATCTAATCTCTAGGTCAGTGTCCTGTGCTCCTGAGCCTCAGAAGGCAAGAAAGAAGGGATACAGACGTCAGCGT
CCCTGTTGGGTGGGGCTGTTTCCGTCACGACTTGTGTCATGGAGCATCATCTCAAAGCTCTGCAGTTAGGAGGCAGAGGGACCTGCTACC
ACCTGTCCCCTCCTCTCCAGTCCTGCCCTGCAGGCAGCCCGGGCACCTGCTGTCTTCCTGGCCTCCCAGATCCTCAAGATGGAGCTCCAG
GAACCATCCCCTCCTCCGCCCGGGCAGGATGCCACCTCCACAAGGCAAATCACATCCATTTGATCTTGAACAAAAGGCTGCCGTGGTGTC
TGAAATGACAACTCCCAGGCGGGTGATGTCATGCTGTTTTGTTTGTCTCCATGGACTGTGGGGATCCAATTTCAGTTGTGAAGAAAACGG
TCTGGGGAAAAAAGTTACTTCATTCGGAAAATTCCGAGAAGCCATAAATACAGTTTGCAGCTGAGGAAAGCACTTTCACACTCAGACAAT
GGATTTGGGTGGAAGAAAAGACTTCCCGCCCCTAAGGCTGAGCCCCTTCACTCCCACCCATGGCCACCGGCAGCCCGCTTCTGCCAGCAG
ATAGATGTGTGCATGGCTCTGGCAAGATCTCAAGCAACCCCCCTTCCCCAAGGAGACTCTCCGTGACCCAGTGGCAAGTTGGCAGGGGAT
GTGTTTTCCCTGGTTCTCATCCTAAATTGTCTCCTGCCCAGAGTCCATCCCTGAAGTATCAGGCACTTCCCTCTCGTAAATGGTTGACCT

>60741_60741_2_NUBPL-ANKRD46_NUBPL_chr14_32257079_ENST00000536705_ANKRD46_chr8_101522867_ENST00000520552_length(amino acids)=172AA_BP=105
MSKAIGLLDVDVYGPSVPKMMNLKGNPELSQSNLMRPLLNYGIACMSMGFLVEESEPVVWRGLMVMSAIEKLLRQVDWGQLDYLVVDMPP

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

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Fusion Gene PPI Analysis for NUBPL-ANKRD46

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for NUBPL-ANKRD46

Drugs targeting genes involved in this fusion gene.
(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 NUBPL-ANKRD46

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source