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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: 19755

FusionGeneSummary for LIN7A_PPP1R12A

check button Fusion gene summary
Fusion gene informationFusion gene name: LIN7A_PPP1R12A
Fusion gene ID: 19755
HgeneTgene
Gene symbol

LIN7A

PPP1R12A

Gene ID

8825

4659

Gene namelin-7 homolog A, crumbs cell polarity complex componentprotein phosphatase 1 regulatory subunit 12A
SynonymsLIN-7A|LIN7|MALS-1|MALS1|TIP-33|VELI1M130|MBS|MYPT1
Cytomap

12q21.31

12q21.2-q21.31

Type of geneprotein-codingprotein-coding
Descriptionprotein lin-7 homolog Amammalian lin-seven protein 1tax interaction protein 33vertebrate LIN7 homolog 1protein phosphatase 1 regulatory subunit 12Amyosin binding subunitmyosin phosphatase, target subunit 1myosin phosphatase-targeting subunit 1protein phosphatase 1, regulatory (inhibitor) subunit 12Aprotein phosphatase myosin-binding subunit
Modification date2018052320180523
UniProtAcc

O14910

O14974

Ensembl transtripts involved in fusion geneENST00000552864, ENST00000261207, 
ENST00000450142, ENST00000437004, 
ENST00000546369, ENST00000550107, 
Fusion gene scores* DoF score8 X 3 X 3=725 X 4 X 4=80
# samples 75
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LIN7A [Title/Abstract] AND PPP1R12A [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
TgenePPP1R12A

GO:0030155

regulation of cell adhesion

20354225

TgenePPP1R12A

GO:0035507

regulation of myosin-light-chain-phosphatase activity

20354225

TgenePPP1R12A

GO:0043086

negative regulation of catalytic activity

19245366

TgenePPP1R12A

GO:0045944

positive regulation of transcription by RNA polymerase II

19245366


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
TCGARVSARCTCGA-3B-A9HY-01ALIN7Achr12

81331420

-PPP1R12Achr12

80328731

-
* 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
5CDS-5UTRENST00000552864ENST00000261207LIN7Achr12

81331420

-PPP1R12Achr12

80328731

-
5CDS-5UTRENST00000552864ENST00000450142LIN7Achr12

81331420

-PPP1R12Achr12

80328731

-
5CDS-5UTRENST00000552864ENST00000437004LIN7Achr12

81331420

-PPP1R12Achr12

80328731

-
5CDS-intronENST00000552864ENST00000546369LIN7Achr12

81331420

-PPP1R12Achr12

80328731

-
5CDS-intronENST00000552864ENST00000550107LIN7Achr12

81331420

-PPP1R12Achr12

80328731

-

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FusionProtFeatures for LIN7A_PPP1R12A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LIN7A

O14910

PPP1R12A

O14974

Plays a role in establishing and maintaining theasymmetric distribution of channels and receptors at the plasmamembrane of polarized cells. Forms membrane-associatedmultiprotein complexes that may regulate delivery and recycling ofproteins to the correct membrane domains. The tripartite complexcomposed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may havethe potential to couple synaptic vesicle exocytosis to celladhesion in brain. Ensures the proper localization of GRIN2B(subunit 2B of the NMDA receptor) to neuronal postsynaptic densityand may function in localizing synaptic vesicles at synapses whereit is recruited by beta-catenin and cadherin. Required to localizeKir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2,ERBB3 and ERBB4 to the basolateral membrane of epithelial cells.{ECO:0000269|PubMed:12967566}. Key regulator of protein phosphatase 1C (PPP1C).Mediates binding to myosin. As part of the PPP1C complex, involvedin dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity.{ECO:0000269|PubMed:18477460, ECO:0000269|PubMed:19245366,ECO:0000269|PubMed:20354225}.

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 LIN7A_PPP1R12A


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 LIN7A_PPP1R12A


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
LIN7AKCNJ12, KCNJ4, DLG1, CASK, MPP6, DLG4, GRIN2B, AMOT, APP, MPP5, BAI1, GOLGA2, MPP2, MPP3, ZYX, FAM9B, NOTCH2NL, FAM188A, CADM1, EPB41L2, GUCY1A2, GUCY1B3, INADL, MPDZ, MPP7, PIP4K2B, PXDC1, SLC20A1, SNTB2, CDA, NSUN2PPP1R12AIL16, PPP1CB, PRKG1, HDAC7, KDM1A, SETD7, ELAVL1, ARRB2, FBXO25, SIAH2, ATXN10, LRRK2, RHOA, CDV3, IDH3G, PAXIP1, FMNL1, PAN2, LATS1, AARSD1, ACTR3, ARPC2, CUL1, P3H1, NRD1, NSUN2, NUDT5, NUSAP1, OSGEP, PFDN1, PFDN5, RPRD1B, XPO5, PUS1, RPA1, TPP2, TRIM47, TTLL12, RPA3, RPA2, NUAK1, TP53, LUZP4, FKBP6, PHF7, CDK8, NTRK1, MED23, RPGRIP1L, CAPZA2, CDK2, CRK, DBN1, FLNA, MYH9, MYO1C, IQGAP1, ACTR2, SYNPO, ANLN, MYO5C, MYO19, MYO18A, FOS, CDKN3, JUNB, SERPINB2, NUAK2, SH3BP5L, ZNF263, TULP3


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 LIN7A_PPP1R12A


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 LIN7A_PPP1R12A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLIN7AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneLIN7AC0024667Animal Mammary Neoplasms1CTD_human
HgeneLIN7AC0024668Mammary Neoplasms, Experimental1CTD_human