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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:NAA15-HHIP (FusionGDB2 ID:56600)

Fusion Gene Summary for NAA15-HHIP

check button Fusion gene summary
Fusion gene informationFusion gene name: NAA15-HHIP
Fusion gene ID: 56600
HgeneTgene
Gene symbol

NAA15

HHIP

Gene ID

80155

64399

Gene nameN-alpha-acetyltransferase 15, NatA auxiliary subunithedgehog interacting protein
SynonymsGa19|MRD50|NARG1|NAT1P|NATH|TBDN|TBDN100HIP
Cytomap

4q31.1

4q31.21

Type of geneprotein-codingprotein-coding
DescriptionN-alpha-acetyltransferase 15, NatA auxiliary subunitN-terminal acetyltransferaseNMDA receptor regulated 1NMDA receptor-regulated protein 1gastric cancer antigen Ga19protein tubedown-1transcriptional coactivator tubedown-100tubedown-1hedgehog-interacting protein
Modification date2020031320200313
UniProtAcc

Q9BXJ9

Q6UWX4

Ensembl transtripts involved in fusion geneENST00000296543, ENST00000398947, 
ENST00000480277, ENST00000515576, 
ENST00000296575, ENST00000434550, 
ENST00000511314, 
Fusion gene scores* DoF score18 X 10 X 7=12601 X 1 X 1=1
# samples 211
** MAII scorelog2(21/1260*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NAA15 [Title/Abstract] AND HHIP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNAA15(140222985)-HHIP(145580789), # samples:1
Anticipated loss of major functional domain due to fusion event.NAA15-HHIP seems lost the major protein functional domain in Hgene 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
HgeneNAA15

GO:0006474

N-terminal protein amino acid acetylation

15496142

HgeneNAA15

GO:0045893

positive regulation of transcription, DNA-templated

12145306

TgeneHHIP

GO:0009968

negative regulation of signal transduction

19561609


check buttonFusion gene breakpoints across NAA15 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-V1-A9OQ-01ANAA15chr4

140222985

-HHIPchr4

145580789

+


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Fusion Gene ORF analysis for NAA15-HHIP

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
Frame-shiftENST00000296543ENST00000296575NAA15chr4

140222985

-HHIPchr4

145580789

+
In-frameENST00000296543ENST00000434550NAA15chr4

140222985

-HHIPchr4

145580789

+
5CDS-3UTRENST00000296543ENST00000511314NAA15chr4

140222985

-HHIPchr4

145580789

+
Frame-shiftENST00000398947ENST00000296575NAA15chr4

140222985

-HHIPchr4

145580789

+
In-frameENST00000398947ENST00000434550NAA15chr4

140222985

-HHIPchr4

145580789

+
5CDS-3UTRENST00000398947ENST00000511314NAA15chr4

140222985

-HHIPchr4

145580789

+
intron-3CDSENST00000480277ENST00000296575NAA15chr4

140222985

-HHIPchr4

145580789

+
intron-3CDSENST00000480277ENST00000434550NAA15chr4

140222985

-HHIPchr4

145580789

+
intron-3UTRENST00000480277ENST00000511314NAA15chr4

140222985

-HHIPchr4

145580789

+
intron-3CDSENST00000515576ENST00000296575NAA15chr4

140222985

-HHIPchr4

145580789

+
intron-3CDSENST00000515576ENST00000434550NAA15chr4

140222985

-HHIPchr4

145580789

+
intron-3UTRENST00000515576ENST00000511314NAA15chr4

140222985

-HHIPchr4

145580789

+

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)
ENST00000296543NAA15chr4140222985-ENST00000434550HHIPchr4145580789+101437739174105
ENST00000398947NAA15chr4140222985-ENST00000434550HHIPchr4145580789+88124429057795

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
ENST00000296543ENST00000434550NAA15chr4140222985-HHIPchr4145580789+0.947605850.052394163
ENST00000398947ENST00000434550NAA15chr4140222985-HHIPchr4145580789+0.86750460.13249545

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Fusion Genomic Features for NAA15-HHIP


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.

check buttonDistribution 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 NAA15-HHIP


check button Go to

FGviewer for the breakpoints of chr4:140222985-chr4:145580789

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NAA15

Q9BXJ9

HHIP

Q6UWX4

FUNCTION: Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter. {ECO:0000269|PubMed:11687548, ECO:0000269|PubMed:12145306, ECO:0000269|PubMed:15496142}.

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
TgeneHHIPchr4:140222985chr4:145580789ENST00000296575213607_634209.66666666666666701.0DomainEGF-like 1
TgeneHHIPchr4:140222985chr4:145580789ENST00000296575213635_667209.66666666666666701.0DomainEGF-like 2
TgeneHHIPchr4:140222985chr4:145580789ENST0000043455024607_634209.66666666666666321.0DomainEGF-like 1
TgeneHHIPchr4:140222985chr4:145580789ENST0000043455024635_667209.66666666666666321.0DomainEGF-like 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120629_63218.0867.0Compositional biasNote=Poly-Asp
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120612_62918.0867.0MotifBipartite nuclear localization signal
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120148_18418.0867.0RepeatNote=TPR 3
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120224_25718.0867.0RepeatNote=TPR 4
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120374_40718.0867.0RepeatNote=TPR 5
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120409_44118.0867.0RepeatNote=TPR 6
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-12046_7918.0867.0RepeatNote=TPR 1
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120485_51818.0867.0RepeatNote=TPR 7
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120672_70518.0867.0RepeatNote=TPR 8
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-12080_11318.0867.0RepeatNote=TPR 2
TgeneHHIPchr4:140222985chr4:145580789ENST0000029657521335_54209.66666666666666701.0Compositional biasNote=Arg-rich
TgeneHHIPchr4:140222985chr4:145580789ENST000004345502435_54209.66666666666666321.0Compositional biasNote=Arg-rich


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Fusion Gene Sequence for NAA15-HHIP


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.
>In-frame_ENST00000296543_ENST00000434550_TCGA-V1-A9OQ-01A_NAA15_chr4_140222985_-_HHIP_chr4_145580789_length(transcript)=1014nt_BP=377nt
GTGTTAGGAAGCGTGACCCGGGTGGGAAAACCCTCCGCGTCCGCCATTTTGGCTGCCTCTGTCGGTCTGTTCAGTTACCACGTGAACCGC
CGACGGAGACCCGTAGTGGGGGAGGCGGCGGCAGCGTTAAGTGAGAAAGGAAAAAAGACAACGAGGAAAAAGGAGGTGTCCGGGTAGGGC
AACGCGGCGACACCCGAGGCCTGGTGGTGGCGGCGGATCGAGATATTCAAGGCTGAAGCAGCTACGGAACGGCAGCGGCGGCGGTCGGAC
AAACTGACTGACCGAGCCGGGTGGTGGCGGGAGCAGCGGGAGCAGCCGGAACGATGCCGGCCGTGAGCCTCCCGCCCAAGGAGAATGCGC
TCTTCAAGCGGATCTTGAAAGCACAAACACAACTGCTTCTGTATTCAGGAGGTTGTGAGTGGGCTGCGGCAGCCCGTTGGTGCCCTGCAT
AGTGGGGATGGCTCGCAACGTCTCTTCATTCTGGAAAAAGAAGGTTATGTGAAGATACTTACCCCTGAAGGAGAAATTTTCAAGGAGCCT
TATTTGGACATTCACAAACTTGTTCAAAGTGGAATAAAGGTTGGCTTTTTAAATTTTATTTATTTTTGTGCTGGCTACGTTAATTTTATT
TTAGTGTTACCTTCCTCACTGAAGGTATTTCTTTGTAATAAAAGAAAGAATCTTGCAGGAGAAAATAAGGGGGCAACATAAGAAACAATA
ATTATGGCACCTGAATTAGGACAGTGACATTAAATTTCTGTTATTTGTTGACTATTGTGCGCTGCAATCGAATTGATATTTGACATGCTT
TCCCCATGTAATTGACACATTTAAAGGAATCTTTGGCTTTATAAAGTATTGTTTAAATATTGTTTAATGGGCATAACACAGGACTGTACA
TCAGCATTTGCTAGTAGAAACAAAGAGGTCTTTTGGTTATTTTGGCAATTGCAAATCATTCTTTCACCATCTCTGTTTTTGAGTCTGTCT

>In-frame_ENST00000296543_ENST00000434550_TCGA-V1-A9OQ-01A_NAA15_chr4_140222985_-_HHIP_chr4_145580789_length(amino acids)=105AA_start in transcript=391_stop in transcript=74
MCLCFQDPLEERILLGREAHGRHRSGCSRCSRHHPARSVSLSDRRRCRSVAASALNISIRRHHQASGVAALPYPDTSFFLVVFFPFSLNA

--------------------------------------------------------------
>In-frame_ENST00000398947_ENST00000434550_TCGA-V1-A9OQ-01A_NAA15_chr4_140222985_-_HHIP_chr4_145580789_length(transcript)=881nt_BP=244nt
AGAAAGGAAAAAAGACAACGAGGAAAAAGGAGGTGTCCGGGTAGGGCAACGCGGCGACACCCGAGGCCTGGTGGTGGCGGCGGATCGAGA
TATTCAAGGCTGAAGCAGCTACGGAACGGCAGCGGCGGCGGTCGGACAAACTGACTGACCGAGCCGGGTGGTGGCGGGAGCAGCGGGAGC
AGCCGGAACGATGCCGGCCGTGAGCCTCCCGCCCAAGGAGAATGCGCTCTTCAAGCGGATCTTGAAAGCACAAACACAACTGCTTCTGTA
TTCAGGAGGTTGTGAGTGGGCTGCGGCAGCCCGTTGGTGCCCTGCATAGTGGGGATGGCTCGCAACGTCTCTTCATTCTGGAAAAAGAAG
GTTATGTGAAGATACTTACCCCTGAAGGAGAAATTTTCAAGGAGCCTTATTTGGACATTCACAAACTTGTTCAAAGTGGAATAAAGGTTG
GCTTTTTAAATTTTATTTATTTTTGTGCTGGCTACGTTAATTTTATTTTAGTGTTACCTTCCTCACTGAAGGTATTTCTTTGTAATAAAA
GAAAGAATCTTGCAGGAGAAAATAAGGGGGCAACATAAGAAACAATAATTATGGCACCTGAATTAGGACAGTGACATTAAATTTCTGTTA
TTTGTTGACTATTGTGCGCTGCAATCGAATTGATATTTGACATGCTTTCCCCATGTAATTGACACATTTAAAGGAATCTTTGGCTTTATA
AAGTATTGTTTAAATATTGTTTAATGGGCATAACACAGGACTGTACATCAGCATTTGCTAGTAGAAACAAAGAGGTCTTTTGGTTATTTT

>In-frame_ENST00000398947_ENST00000434550_TCGA-V1-A9OQ-01A_NAA15_chr4_140222985_-_HHIP_chr4_145580789_length(amino acids)=95AA_start in transcript=290_stop in transcript=577
MRQPVGALHSGDGSQRLFILEKEGYVKILTPEGEIFKEPYLDIHKLVQSGIKVGFLNFIYFCAGYVNFILVLPSSLKVFLCNKRKNLAGE

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

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Fusion Gene PPI Analysis for NAA15-HHIP


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
TgeneHHIPchr4:140222985chr4:145580789ENST00000296575213376_388209.66666666666666701.0SHH zinc binding site
TgeneHHIPchr4:140222985chr4:145580789ENST0000043455024376_388209.66666666666666321.0SHH zinc binding site


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneNAA15chr4:140222985chr4:145580789ENST00000296543-120500_86618.0867.0HYPK


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 NAA15-HHIP


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 NAA15-HHIP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNAA15C0020796Profound Mental Retardation1CTD_human
HgeneNAA15C0025363Mental Retardation, Psychosocial1CTD_human
HgeneNAA15C0917816Mental deficiency1CTD_human
HgeneNAA15C3714756Intellectual Disability1CTD_human;GENOMICS_ENGLAND
HgeneNAA15C4540470MENTAL RETARDATION, AUTOSOMAL DOMINANT 501GENOMICS_ENGLAND;UNIPROT
TgeneHHIPC0009402Colorectal Carcinoma1CTD_human
TgeneHHIPC0009404Colorectal Neoplasms1CTD_human
TgeneHHIPC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneHHIPC0848558Hypospadias1CTD_human
TgeneHHIPC2239176Liver carcinoma1CTD_human
TgeneHHIPC3179349Gastrointestinal Stromal Sarcoma1CTD_human
TgeneHHIPC3495676Anorectal Malformations1GENOMICS_ENGLAND