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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:KANSL1-NME1 (FusionGDB2 ID:HG284058TG4830)

Fusion Gene Summary for KANSL1-NME1

check button Fusion gene summary
Fusion gene informationFusion gene name: KANSL1-NME1
Fusion gene ID: hg284058tg4830
HgeneTgene
Gene symbol

KANSL1

NME1

Gene ID

284058

4830

Gene nameKAT8 regulatory NSL complex subunit 1NME/NM23 nucleoside diphosphate kinase 1
SynonymsCENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1AWD|GAAD|NB|NBS|NDKA|NDPK-A|NDPKA|NM23|NM23-H1
Cytomap('KANSL1')('NME1')

17q21.31

17q21.33

Type of geneprotein-codingprotein-coding
DescriptionKAT8 regulatory NSL complex subunit 1MLL1/MLL complex subunit KANSL1MSL1 homolog 1NSL complex protein NSL1centromere protein 36male-specific lethal 1 homolognon-specific lethal 1 homolognucleoside diphosphate kinase ANDP kinase Aepididymis secretory sperm binding proteingranzyme A-activated DNasemetastasis inhibition factor nm23non-metastatic cells 1, protein (NM23A) expressed intumor metastatic process-associated protein
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000262419, ENST00000432791, 
ENST00000572904, ENST00000574590, 
ENST00000575318, ENST00000393476, 
ENST00000576248, 
Fusion gene scores* DoF score34 X 33 X 14=157083 X 4 X 3=36
# samples 474
** MAII scorelog2(47/15708*10)=-5.0626949361014
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KANSL1 [Title/Abstract] AND NME1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKANSL1(44248220)-NME1(49233011), # samples:2
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneKANSL1

GO:0043981

histone H4-K5 acetylation

20018852

HgeneKANSL1

GO:0043982

histone H4-K8 acetylation

20018852

HgeneKANSL1

GO:0043984

histone H4-K16 acetylation

20018852

TgeneNME1

GO:0043388

positive regulation of DNA binding

17975005



check button Fusion gene information
* 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
ChimerDB4ESCATCGA-L5-A891KANSL1chr17

44248220

-NME1chr17

49233011

+


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Fusion Gene ORF analysis for KANSL1-NME1

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
5CDS-5UTRENST00000262419ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000262419ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000262419ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000262419ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000262419ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000432791ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000432791ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000432791ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000432791ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000432791ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000572904ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000572904ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000572904ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000572904ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000572904ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000574590ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000574590ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000574590ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000574590ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000574590ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000575318ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000575318ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000575318ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000575318ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5CDS-5UTRENST00000575318ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000393476ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000393476ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000393476ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000393476ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000393476ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000576248ENST00000013034KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000576248ENST00000336097KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000576248ENST00000393196KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000576248ENST00000480143KANSL1chr17

44248220

-NME1chr17

49233011

+
5UTR-5UTRENST00000576248ENST00000511355KANSL1chr17

44248220

-NME1chr17

49233011

+

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)

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

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Fusion Genomic Features for KANSL1-NME1


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)
KANSL1chr1744248220-NME1chr1749233011+0.000160850.99983907
KANSL1chr1744248220-NME1chr1749233011+0.000160850.99983907


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.
genomic feature of top 1%

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Fusion Protein Features for KANSL1-NME1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:44248220/:49233011)
- 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.
FGviewer

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

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for KANSL1-NME1


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.

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Fusion Gene PPI Analysis for KANSL1-NME1


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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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 KANSL1-NME1


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 KANSL1-NME1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKANSL1C0020796Profound Mental Retardation2CTD_human
HgeneKANSL1C0025363Mental Retardation, Psychosocial2CTD_human
HgeneKANSL1C0026825Flaccid Muscle Tone2CTD_human
HgeneKANSL1C0026827Muscle hypotonia2CTD_human
HgeneKANSL1C0376634Craniofacial Abnormalities2CTD_human
HgeneKANSL1C0427201Floppy Muscles2CTD_human
HgeneKANSL1C0427202Muscle Tone Atonic2CTD_human
HgeneKANSL1C0751330Unilateral Hypotonia2CTD_human
HgeneKANSL1C0917816Mental deficiency2CTD_human
HgeneKANSL1C1864871Chromosome 17q21.31 Deletion Syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneKANSL1C2267233Neonatal Hypotonia2CTD_human
HgeneKANSL1C2931713Chromosome 17 deletion2CTD_human
HgeneKANSL1C3683846Chromosome 17p Deletion Syndrome2CTD_human
HgeneKANSL1C3714756Intellectual Disability2CTD_human
HgeneKANSL1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneKANSL1C0919267ovarian neoplasm1CTD_human
HgeneKANSL1C1140680Malignant neoplasm of ovary1CTD_human
HgeneKANSL1C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgeneC0003129Anoxemia1CTD_human
TgeneC0003130Anoxia1CTD_human
TgeneC0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0242184Hypoxia1CTD_human
TgeneC0700292Hypoxemia1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4551472Hypertrophic obstructive cardiomyopathy1CTD_human