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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18148

FusionGeneSummary for KANSL1_PPP1R1B

check button Fusion gene summary
Fusion gene informationFusion gene name: KANSL1_PPP1R1B
Fusion gene ID: 18148
HgeneTgene
Gene symbol

KANSL1

PPP1R1B

Gene ID

284058

84152

Gene nameKAT8 regulatory NSL complex subunit 1protein phosphatase 1 regulatory inhibitor subunit 1B
SynonymsCENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1DARPP-32|DARPP32
Cytomap

17q21.31

17q12

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 homologprotein phosphatase 1 regulatory subunit 1Bdopamine and cAMP-regulated neuronal phosphoprotein 32
Modification date2018052320180527
UniProtAcc

Q7Z3B3

Q9UD71

Ensembl transtripts involved in fusion geneENST00000574590, ENST00000575318, 
ENST00000572904, ENST00000262419, 
ENST00000432791, ENST00000393476, 
ENST00000576248, 		ENST00000580825, 
ENST00000254079, ENST00000579000, 
ENST00000394265, ENST00000394267, 
Fusion gene scores* DoF score18 X 14 X 7=176410 X 5 X 11=550
# samples 1919
** MAII scorelog2(19/1764*10)=-3.21477923722657
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/550*10)=-1.53343220008107
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KANSL1 [Title/Abstract] AND PPP1R1B [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgenePPP1R1B

GO:0032515

negative regulation of phosphoprotein phosphatase activity

10807923


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A8-A09G-01AKANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-5UTRENST00000574590ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000574590ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000574590ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000574590ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000574590ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000575318ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000575318ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000575318ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000575318ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000575318ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000572904ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000572904ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000572904ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000572904ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000572904ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000262419ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000262419ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000262419ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000262419ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000262419ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000432791ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000432791ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000432791ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000432791ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000432791ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000393476ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000393476ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000393476ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000393476ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000393476ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000576248ENST00000580825KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000576248ENST00000254079KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-5UTRENST00000576248ENST00000579000KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000576248ENST00000394265KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+
intron-intronENST00000576248ENST00000394267KANSL1chr17

44239843

-PPP1R1Bchr17

37783559

+

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FusionProtFeatures for KANSL1_PPP1R1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KANSL1

Q7Z3B3

PPP1R1B

Q9UD71

Inhibitor of protein-phosphatase 1.

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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FusionGeneSequence for KANSL1_PPP1R1B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for KANSL1_PPP1R1B


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
KANSL1CCDC85B, KRT15, NINL, PSME3, TRAF2, NECAB2, CEP70, USHBP1, CALCOCO2, PLEKHA5, KAT8, WDR5, CDC5L, DISC1, EXOC1, RBBP5, DHX8, CTCF, SMAD3, KDM1A, CDR2, GOLGA2, KIFC3, MAGEA12, TRIM27, PNMA1, TRAF4, SPAG5, NUP62, TFIP11, HOOK2, CCDC136, DTNBP1, FSD2, NUTM1, HSPB1, MDFI, FOXK2, PHF20, PHF20L1, KANSL2, TRAF1, DUS2, MCRS1, ECI2, TPM2, TRIM25PPP1R1BDLGAP4, CSNK2A1, PPP1CC, PPP1CA, TFCP2, KLHL6, ACTBL2


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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RelatedDrugs for KANSL1_PPP1R1B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KANSL1_PPP1R1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKANSL1C0026827Muscle hypotonia2CTD_human
HgeneKANSL1C0376634Craniofacial Abnormalities2CTD_human
HgeneKANSL1C2931713Chromosome 17 deletion2CTD_human
HgeneKANSL1C3714756Intellectual Disability2CTD_human
HgeneKANSL1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneKANSL1C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgenePPP1R1BC0036341Schizophrenia5PSYGENET
TgenePPP1R1BC0005586Bipolar Disorder4PSYGENET
TgenePPP1R1BC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgenePPP1R1BC0007370Catalepsy1CTD_human
TgenePPP1R1BC0011570Mental Depression1PSYGENET
TgenePPP1R1BC0011581Depressive disorder1PSYGENET
TgenePPP1R1BC0013384Dyskinetic syndrome1CTD_human