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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: 2154

FusionGeneSummary for APH1A_RGS4

check button Fusion gene summary
Fusion gene informationFusion gene name: APH1A_RGS4
Fusion gene ID: 2154
HgeneTgene
Gene symbol

APH1A

RGS4

Gene ID

51107

5999

Gene nameaph-1 homolog A, gamma-secretase subunitregulator of G protein signaling 4
Synonyms6530402N02Rik|APH-1|APH-1A|CGI-78RGP4|SCZD9
Cytomap

1q21.2

1q23.3

Type of geneprotein-codingprotein-coding
Descriptiongamma-secretase subunit APH-1AAPH1A gamma secretase subunitanterior pharynx defective 1 homolog Aaph-1alphapresenilin-stabilization factorregulator of G-protein signaling 4schizophrenia disorder 9
Modification date2018052320180519
UniProtAcc

Q96BI3

P49798

Ensembl transtripts involved in fusion geneENST00000369109, ENST00000360244, 
ENST00000414276, ENST00000461320, 
ENST00000421743, ENST00000367909, 
ENST00000531057, ENST00000527809, 
ENST00000367908, ENST00000491263, 
ENST00000367906, 
Fusion gene scores* DoF score3 X 4 X 3=361 X 1 X 1=1
# samples 41
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(1/1*10)=3.32192809488736
Context

PubMed: APH1A [Title/Abstract] AND RGS4 [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
HgeneAPH1A

GO:0006509

membrane protein ectodomain proteolysis

15274632

HgeneAPH1A

GO:0016485

protein processing

15274632

HgeneAPH1A

GO:0042982

amyloid precursor protein metabolic process

25043039|26280335

HgeneAPH1A

GO:0043085

positive regulation of catalytic activity

15274632


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-A2-A0YG-01AAPH1Achr1

150241098

-RGS4chr1

163039042

+
* 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
Frame-shiftENST00000369109ENST00000421743APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-5UTRENST00000369109ENST00000367909APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000369109ENST00000531057APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000369109ENST00000527809APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000369109ENST00000367908APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000369109ENST00000491263APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000369109ENST00000367906APH1Achr1

150241098

-RGS4chr1

163039042

+
Frame-shiftENST00000360244ENST00000421743APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-5UTRENST00000360244ENST00000367909APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000360244ENST00000531057APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000360244ENST00000527809APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000360244ENST00000367908APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000360244ENST00000491263APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000360244ENST00000367906APH1Achr1

150241098

-RGS4chr1

163039042

+
Frame-shiftENST00000414276ENST00000421743APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-5UTRENST00000414276ENST00000367909APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000414276ENST00000531057APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000414276ENST00000527809APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000414276ENST00000367908APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000414276ENST00000491263APH1Achr1

150241098

-RGS4chr1

163039042

+
5CDS-intronENST00000414276ENST00000367906APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-3CDSENST00000461320ENST00000421743APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-5UTRENST00000461320ENST00000367909APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-intronENST00000461320ENST00000531057APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-intronENST00000461320ENST00000527809APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-intronENST00000461320ENST00000367908APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-intronENST00000461320ENST00000491263APH1Achr1

150241098

-RGS4chr1

163039042

+
5UTR-intronENST00000461320ENST00000367906APH1Achr1

150241098

-RGS4chr1

163039042

+

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FusionProtFeatures for APH1A_RGS4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APH1A

Q96BI3

RGS4

P49798

Non-catalytic subunit of the gamma-secretase complex, anendoprotease complex that catalyzes the intramembrane cleavage ofintegral membrane proteins such as Notch receptors and APP(amyloid-beta precursor protein) (PubMed:12297508,PubMed:12522139, PubMed:12763021, PubMed:12679784,PubMed:25043039, PubMed:26280335). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034,PubMed:12763021, PubMed:19369254). The gamma-secretase complexplays a role in Notch and Wnt signaling cascades and regulation ofdownstream processes via its role in processing key regulatoryproteins, and by regulating cytosolic CTNNB1 levels (Probable).{ECO:0000269|PubMed:12297508, ECO:0000269|PubMed:12471034,ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12679784,ECO:0000269|PubMed:12763021, ECO:0000269|PubMed:25043039,ECO:0000269|PubMed:26280335, ECO:0000305}. Inhibits signal transduction by increasing the GTPaseactivity of G protein alpha subunits thereby driving them intotheir inactive GDP-bound form. Activity on G(z)-alpha is inhibitedby phosphorylation of the G-protein. Activity on G(z)-alpha andG(i)-alpha-1 is inhibited by palmitoylation of the G-protein.

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 APH1A_RGS4


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 APH1A_RGS4


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
APH1ANCSTN, PSEN1, PSENEN, PSEN2, ELAVL1, APH1A, GLP1R, HIVEP1, TLE1, RBFOX2, ATF4, HES1, THPO, KLF11, BHLHE40, GPATCH8, ERLIN2, MOV10, NXF1, CREB3RGS4COPB2, GNAQ, ERBB3, GNAI1, GNAI2, GNAO1, KRIT1, GABBR1, EGFR, PREPL


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 APH1A_RGS4


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 APH1A_RGS4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRGS4C0005586Bipolar Disorder5PSYGENET
TgeneRGS4C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneRGS4C0014175Endometriosis1CTD_human
TgeneRGS4C2063866Depressive Disorder, Treatment-Resistant1PSYGENET