FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 22651

FusionGeneSummary for MSL1_PPP3CA

check button Fusion gene summary
Fusion gene informationFusion gene name: MSL1_PPP3CA
Fusion gene ID: 22651
HgeneTgene
Gene symbol

MSL1

PPP3CA

Gene ID

339287

5530

Gene namemale specific lethal 1 homologprotein phosphatase 3 catalytic subunit alpha
SynonymsMSL-1|hMSL1CALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2B
Cytomap

17q21.1

4q24

Type of geneprotein-codingprotein-coding
Descriptionmale-specific lethal 1 homologMSL1-like 1male-specific lethal 1-like 1male-specific lethal-1 homolog 1serine/threonine-protein phosphatase 2B catalytic subunit alpha isoformCAM-PRP catalytic subunitcalcineurin A alphacalmodulin-dependent calcineurin A subunit alpha isoformprotein phosphatase 2B, catalytic subunit, alpha isoformprotein phosphatase 3 (
Modification date2018052320180523
UniProtAcc

Q68DK7

Q08209

Ensembl transtripts involved in fusion geneENST00000398532, ENST00000577454, 
ENST00000578648, ENST00000579565, 
ENST00000512215, ENST00000394854, 
ENST00000323055, ENST00000394853, 
ENST00000507176, ENST00000523694, 
ENST00000510292, 
Fusion gene scores* DoF score4 X 4 X 2=328 X 5 X 3=120
# samples 48
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MSL1 [Title/Abstract] AND PPP3CA [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
HgeneMSL1

GO:0043984

histone H4-K16 acetylation

20018852

TgenePPP3CA

GO:0006470

protein dephosphorylation

18815128|19154138

TgenePPP3CA

GO:0033173

calcineurin-NFAT signaling cascade

19154138|22688515

TgenePPP3CA

GO:0035690

cellular response to drug

11005320

TgenePPP3CA

GO:0045944

positive regulation of transcription by RNA polymerase II

22688515

TgenePPP3CA

GO:0051592

response to calcium ion

18815128


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
ChiTaRS3.1BE896062MSL1chr17

38291327

+PPP3CAchr4

101946829

-
* 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
3UTR-3UTRENST00000398532ENST00000512215MSL1chr17

38291327

+PPP3CAchr4

101946829

-
3UTR-3UTRENST00000398532ENST00000394854MSL1chr17

38291327

+PPP3CAchr4

101946829

-
3UTR-3UTRENST00000398532ENST00000323055MSL1chr17

38291327

+PPP3CAchr4

101946829

-
3UTR-3UTRENST00000398532ENST00000394853MSL1chr17

38291327

+PPP3CAchr4

101946829

-
3UTR-3UTRENST00000398532ENST00000507176MSL1chr17

38291327

+PPP3CAchr4

101946829

-
3UTR-intronENST00000398532ENST00000523694MSL1chr17

38291327

+PPP3CAchr4

101946829

-
3UTR-intronENST00000398532ENST00000510292MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000577454ENST00000512215MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000577454ENST00000394854MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000577454ENST00000323055MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000577454ENST00000394853MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000577454ENST00000507176MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-intronENST00000577454ENST00000523694MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-intronENST00000577454ENST00000510292MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000578648ENST00000512215MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000578648ENST00000394854MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000578648ENST00000323055MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000578648ENST00000394853MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000578648ENST00000507176MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-intronENST00000578648ENST00000523694MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-intronENST00000578648ENST00000510292MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000579565ENST00000512215MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000579565ENST00000394854MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000579565ENST00000323055MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000579565ENST00000394853MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-3UTRENST00000579565ENST00000507176MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-intronENST00000579565ENST00000523694MSL1chr17

38291327

+PPP3CAchr4

101946829

-
intron-intronENST00000579565ENST00000510292MSL1chr17

38291327

+PPP3CAchr4

101946829

-

Top

FusionProtFeatures for MSL1_PPP3CA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MSL1

Q68DK7

PPP3CA

Q08209

Component of histone acetyltransferase complexresponsible for the majority of histone H4 acetylation at 'Lys-16'(H4K16ac) which is implicated in the formation of higher-orderchromatin structure. Greatly enhances MSL2 E3 ubiquitin ligaseactivity, promoting monoubiquitination of histone H2B at 'Lys-34'(H2BK34Ub). This modification in turn stimulates histone H3methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leadsto gene activation, including that of HOXA9 and MEIS1. In the MSLcomplex, acts as a scaffold to tether MSL3 and KAT8 together forenzymatic activity regulation. {ECO:0000269|PubMed:16227571,ECO:0000269|PubMed:21726816, ECO:0000269|PubMed:22547026}. Calcium-dependent, calmodulin-stimulated proteinphosphatase which plays an essential role in the transduction ofintracellular Ca(2+)-mediated signals (PubMed:15671020,PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of thesubstrates contain a PxIxIT motif and/or a LxVP motif(PubMed:17498738, PubMed:17502104, PubMed:23468591,PubMed:27974827, PubMed:22343722). In response to increased Ca(2+)levels, dephosphorylates and activates phosphatase SSH1 whichresults in cofilin dephosphorylation (PubMed:15671020). Inresponse to increased Ca(2+) levels following mitochondrialdepolarization, dephosphorylates DNM1L inducing DNM1Ltranslocation to the mitochondrion (PubMed:18838687).Dephosphorylates heat shock protein HSPB1 (By similarity).Dephosphorylates and activates transcription factor NFATC1(PubMed:19154138). In response to increased Ca(2+) levels,regulates NFAT-mediated transcription probably bydephosphorylating NFAT and promoting its nuclear translocation(PubMed:26248042). Dephosphorylates and inactivates transcriptionfactor ELK1 (PubMed:19154138). Dephosphorylates DARPP32(PubMed:19154138). {ECO:0000250|UniProtKB:P48452,ECO:0000269|PubMed:15671020, ECO:0000269|PubMed:17498738,ECO:0000269|PubMed:17502104, ECO:0000269|PubMed:18838687,ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:22343722,ECO:0000269|PubMed:23468591, ECO:0000269|PubMed:26248042,ECO:0000269|PubMed:27974827}.

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


Top

FusionGeneSequence for MSL1_PPP3CA


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).

Top

FusionGenePPI for MSL1_PPP3CA


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


Top

RelatedDrugs for MSL1_PPP3CA


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

Top

RelatedDiseases for MSL1_PPP3CA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePPP3CAC0019202Hepatolenticular Degeneration1CTD_human
TgenePPP3CAC0030305Pancreatitis1CTD_human
TgenePPP3CAC0033578Prostatic Neoplasms1CTD_human
TgenePPP3CAC0039584Testicular Diseases1CTD_human
TgenePPP3CAC0149721Left Ventricular Hypertrophy1CTD_human
TgenePPP3CAC0152013Adenocarcinoma of lung (disorder)1CTD_human