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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: 1184

FusionGeneSummary for AHCYL1_GNAI3

check button Fusion gene summary
Fusion gene informationFusion gene name: AHCYL1_GNAI3
Fusion gene ID: 1184
HgeneTgene
Gene symbol

AHCYL1

GNAI3

Gene ID

10768

2773

Gene nameadenosylhomocysteinase like 1G protein subunit alpha i3
SynonymsDCAL|IRBIT|PPP1R78|PRO0233|XPVKONA87U6|ARCND1
Cytomap

1p13.3

1p13.3

Type of geneprotein-codingprotein-coding
DescriptionS-adenosylhomocysteine hydrolase-like protein 1DC-expressed AHCY-like moleculeIP(3)Rs binding protein released with IP(3)S-adenosyl homocysteine hydrolase homologS-adenosyl-L-homocysteine hydrolase 2adenosylhomocysteinase 2adoHcyase 2dendritic cellguanine nucleotide-binding protein G(k) subunit alphag(i) alpha-3guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
Modification date2018052320180523
UniProtAcc

O43865

P08754

Ensembl transtripts involved in fusion geneENST00000369799, ENST00000475081, 
ENST00000359172, ENST00000393614, 
ENST00000369851, 
Fusion gene scores* DoF score10 X 9 X 4=3604 X 6 X 2=48
# samples 126
** MAII scorelog2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AHCYL1 [Title/Abstract] AND GNAI3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneAHCYL1

GO:0006378

mRNA polyadenylation

19224921

HgeneAHCYL1

GO:0031440

regulation of mRNA 3'-end processing

19224921

HgeneAHCYL1

GO:0038166

angiotensin-activated signaling pathway

20584908

HgeneAHCYL1

GO:0051592

response to calcium ion

18829453

TgeneGNAI3

GO:0007193

adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway

19478087

TgeneGNAI3

GO:0007212

dopamine receptor signaling pathway

19478087

TgeneGNAI3

GO:0046039

GTP metabolic process

19478087

TgeneGNAI3

GO:0051301

cell division

17635935


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
TCGARVSTADTCGA-BR-8060-01AAHCYL1chr1

110527794

+GNAI3chr1

110125059

+
* 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-shiftENST00000369799ENST00000369851AHCYL1chr1

110527794

+GNAI3chr1

110125059

+
3UTR-3CDSENST00000475081ENST00000369851AHCYL1chr1

110527794

+GNAI3chr1

110125059

+
intron-3CDSENST00000359172ENST00000369851AHCYL1chr1

110527794

+GNAI3chr1

110125059

+
intron-3CDSENST00000393614ENST00000369851AHCYL1chr1

110527794

+GNAI3chr1

110125059

+

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FusionProtFeatures for AHCYL1_GNAI3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AHCYL1

O43865

GNAI3

P08754

Multifaceted cellular regulator which coordinatesseveral essential cellular functions including regulation ofepithelial HCO3(-) and fluid secretion, mRNA processing and DNAreplication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate competing for the common binding site and acting asendogenous 'pseudoligand' whose inhibitory activity can bemodulated by its phosphorylation status. In the pancreatic andsalivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1(PubMed:16793548). When extracellular stimuli induce ITPR1phosphorylation or inositol 1,4,5-trisphosphate production,dissociates of ITPR1 to interact with CFTR and SLC26A6 mediatingtheir synergistic activation by calcium and cAMP that stimulatesthe epithelial secretion of electrolytes and fluid (Bysimilarity). Also activates basolateral SLC4A4 isoform 1 tocoordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibitsthe effect of STK39 on SLC4A4 and CFTR by recruiting PP1phosphatase which activates SLC4A4, SLC26A6 and CFTR throughdephosphorylation (By similarity). Mediates the induction ofSLC9A3 surface expression produced by Angiotensin-2(PubMed:20584908). Depending on the cell type, activates SLC9A3 inresponse to calcium or reverses SLC9A3R2-dependent calciuminhibition (PubMed:18829453). May modulate the polyadenylationstate of specific mRNAs, both by controlling the subcellularlocation of FIP1L1 and by inhibiting PAPOLA activity, in responseto a stimulus that alters its phosphorylation state(PubMed:19224921). Acts as a (dATP)-dependent inhibitor ofribonucleotide reductase large subunit RRM1, controlling theendogenous dNTP pool and ensuring normal cell cycle progression(PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity).{ECO:0000250|UniProtKB:B5DFN2, ECO:0000250|UniProtKB:Q80SW1,ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:16793548,ECO:0000269|PubMed:18829453, ECO:0000269|PubMed:19224921,ECO:0000269|PubMed:20584908, ECO:0000269|PubMed:25237103}. Heterotrimeric guanine nucleotide-binding proteins (Gproteins) function as transducers downstream of G protein-coupledreceptors (GPCRs) in numerous signaling cascades. The alpha chaincontains the guanine nucleotide binding site and alternatesbetween an active, GTP-bound state and an inactive, GDP-boundstate. Signaling by an activated GPCR promotes GDP release and GTPbinding. The alpha subunit has a low GTPase activity that convertsbound GTP to GDP, thereby terminating the signal. Both GDP releaseand GTP hydrolysis are modulated by numerous regulatory proteins(PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling ismediated via effector proteins, such as adenylate cyclase.Inhibits adenylate cyclase activity, leading to decreasedintracellular cAMP levels (PubMed:19478087). Stimulates theactivity of receptor-regulated K(+) channels (PubMed:2535845). Theactive GTP-bound form prevents the association of RGS14 withcentrosomes and is required for the translocation of RGS14 fromthe cytoplasm to the plasma membrane. May play a role in celldivision (PubMed:17635935). {ECO:0000269|PubMed:17635935,ECO:0000269|PubMed:18434541, ECO:0000269|PubMed:2535845,ECO:0000269|PubMed:8774883}.

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 AHCYL1_GNAI3


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 AHCYL1_GNAI3


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
AHCYL1ITPR1, HGS, JOSD2, USP42, WDR48, ELAVL1, TBCA, TRIP6, UBE2C, UBQLN1, UCHL3, ZPR1, STAM, C11orf58, PTGES3, SGTA, STIP1, SUGT1, TACC3, TARDBP, THADA, TKT, YAP1, ZRANB2, TOM1L2, UBA2, SEC24C, SULT1A1, TTLL12, UBE2D2, UBE2L3, USP34, CD2BP2, SEC24A, KIAA1598, SOD1, STMN1, TAGLN2, TLE3, TMOD3, TPM2, TTC1, UBE2V1, UBE2B, UBQLN4, UBA52, GINS4, SEPHS1, STUB1, SUMO2, SNCG, CCT5, TPM3P4, UBL7, LAGE3, PPIL3, SNRPA, SP100, SRXN1, TPD52L2, TTC9C, UBE2D1, UBE4B, UFC1, ZYX, SPR, TXN, USP9X, ATP6V1B2, VPS4B, PSAT1, SRSF1, SKP1, SNX12, STAT6, UBXN1, TUBB6, HSPA5, PPM1G, SERPINH1, SH3BGRL3, SNX3, STMN2, TES, TPM1, TYMS, UFM1, VPS26A, ZFYVE19, SIN3A, ECT2, SOX2, FBXL7, SRPK2, SRPK1, PDCD6IP, PPP2CA, UBA6, CSNK1E, BID, CDKN2C, DACH1, GEM, MEOX2, PPL, PSMD9, ZNF165, SLC23A1, AHCYL1, SOX30, MOV10, NXF1, MAB21L3, HOXC9, DHX8, ZC3H3, DOK4, PITX2, EDA, ZNF444, AHCY, FAM13C, ANP32A, ANP32B, ANP32E, C1QBP, CDC37, ECHS1, EIF3M, MYL6, PSMD4, PSMD6, PSME3, PTS, TPM3, PSMD12, RPL37A, CEP128, POC1A, TMEM17, XPO1, AHCYL2, PIP4K2A, HEXIM2, ZNF263, RASL10B, FAM19A3, CAMKV, ABCF2, TGIF2LY, CEP72, FOXD4, ZNF414, ARRB2, PTPN21GNAI3RGS19, GPSM2, CNR1, RGS18, RGS10, MTNR1A, C5AR1, RGS3, RGS2, RGS5, RGS16, RGS14, RGS12, RGS7, RIC8A, S1PR1, ELAVL1, GNB1, GNB2, GNB4, PRKAR2B, GNAI1, GNAI2, CDV3, CCNT1, CD55, FN1, NCF2, PAN2, ADRB2, BAG3, NUCB1, NUCB2, RANGAP1, SOX30, ATP12A, CAPNS1, EIF5, BZW1, LDHA, LDHB, PGD, TXNDC5, UBFD1, VCL, XPO1, YWHAH, YWHAQ, GNB3, RGS17, GPSM3, CCDC88C, NXF1, GPSM1, CCDC88A, GNG4, RAP1GAP, GNAO1, GNAT2, CLTCL1, ATP2A3, RDH13, OSBP, GNG10, AAAS, ALG6, USP33, NDC1, GNG5, TMEM222, GNG11, DCUN1D5, ANKRD13B, GNG7, PCP2, ESR1, RAB11B, PSMD3, NTRK1, SYNPO, GTSE1, DUSP22, MTNR1B, TRIM25, UBE2A, RASA3


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 AHCYL1_GNAI3


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 AHCYL1_GNAI3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGNAI3C0002622Amnesia1CTD_human
TgeneGNAI3C1865295Auriculo-condylar syndrome1ORPHANET;UNIPROT