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: 31149

FusionGeneSummary for RHBDL2_AHCYL2

check button Fusion gene summary
Fusion gene informationFusion gene name: RHBDL2_AHCYL2
Fusion gene ID: 31149
HgeneTgene
Gene symbol

RHBDL2

AHCYL2

Gene ID

54933

23382

Gene namerhomboid like 2adenosylhomocysteinase like 2
SynonymsRRP2ADOHCYASE3|IRBIT2
Cytomap

1p34.3

7q32.1

Type of geneprotein-codingprotein-coding
Descriptionrhomboid-related protein 2rhomboid (veinlet, Drosophila)-like 2rhomboid protease 2rhomboid, veinlet-like 2rhomboid-like protein 2adenosylhomocysteinase 3IP(3)Rs binding protein released with IP(3) 2S-adenosyl-L-homocysteine hydrolase 3S-adenosylhomocysteine hydrolase-like 2long-IRBITputative adenosylhomocysteinase 3
Modification date2018052220180523
UniProtAcc

Q9NX52

Q96HN2

Ensembl transtripts involved in fusion geneENST00000372990, ENST00000289248, 
ENST00000538156, ENST00000372985, 
ENST00000540558, 		ENST00000325006, 
ENST00000446544, ENST00000531335, 
ENST00000474594, ENST00000446212, 
ENST00000490911, ENST00000472554, 
Fusion gene scores* DoF score3 X 2 X 3=187 X 5 X 5=175
# samples 37
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RHBDL2 [Title/Abstract] AND AHCYL2 [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

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
TCGALDCESCTCGA-VS-A8QF-01ARHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
* 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
5UTR-3CDSENST00000372990ENST00000325006RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000372990ENST00000446544RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000372990ENST00000531335RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000372990ENST00000474594RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000372990ENST00000446212RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000372990ENST00000490911RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-intronENST00000372990ENST00000472554RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000289248ENST00000325006RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000289248ENST00000446544RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000289248ENST00000531335RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000289248ENST00000474594RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000289248ENST00000446212RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000289248ENST00000490911RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-intronENST00000289248ENST00000472554RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000538156ENST00000325006RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000538156ENST00000446544RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000538156ENST00000531335RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000538156ENST00000474594RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000538156ENST00000446212RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000538156ENST00000490911RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-intronENST00000538156ENST00000472554RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000372985ENST00000325006RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000372985ENST00000446544RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000372985ENST00000531335RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000372985ENST00000474594RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000372985ENST00000446212RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-3CDSENST00000372985ENST00000490911RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
intron-intronENST00000372985ENST00000472554RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000540558ENST00000325006RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000540558ENST00000446544RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000540558ENST00000531335RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000540558ENST00000474594RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000540558ENST00000446212RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-3CDSENST00000540558ENST00000490911RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+
5UTR-intronENST00000540558ENST00000472554RHBDL2chr1

39407354

-AHCYL2chr7

129062681

+

Top

FusionProtFeatures for RHBDL2_AHCYL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RHBDL2

Q9NX52

AHCYL2

Q96HN2

Involved in regulated intramembrane proteolysis and thesubsequent release of functional polypeptides from their membraneanchors. Known substrate: EFNB3. {ECO:0000269|PubMed:11672525,ECO:0000269|PubMed:15047175}. May regulate the electrogenic sodium/bicarbonatecotransporter SLC4A4 activity and Mg(2+)-sensitivity. On thecontrary of its homolog AHCYL1, does not regulate ITPR1sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705).{ECO:0000250|UniProtKB:A6QLP2, ECO:0000269|PubMed:19220705}.

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 RHBDL2_AHCYL2


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 RHBDL2_AHCYL2


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
RHBDL2EFNB3, KRASAHCYL2BAP1, JOSD2, WDR48, CLK4, CSNK1E, HOXC9, DHX8, UNKL, ZC3H3, DOK4, PITX2, MSL1, VSX2, GRN, RBM23, SYT6, ZNF444, FAM13C, ZBTB44, ANP32B, ANP32E, RPL17, PSMD4, RPS8, XPO1, AHCYL1, PIP4K2A, CAMKV, ZIC2, FOXK2, HEXIM2, ABCF2, ZNF263, RASL10B, NFKBIL1, PIP4K2C, FOXK1, DUSP11, TGIF2LY, CEP72, HOXB6, FAM19A3, BANP, PIP4K2B, KIF18B, FBXW11, FOXD4, HOXB9, PLCD3, ARRB2, NUAK2, ZNHIT6, EEF1D, CAB39, SNX20, PIP5K1A, ZNF414, C4orf26, CLK3, WDR33, PDCD2L, ARSI, JUN, SOST, PTPN21


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 RHBDL2_AHCYL2


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 RHBDL2_AHCYL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAHCYL2C0033578Prostatic Neoplasms1CTD_human