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Fusion gene ID: 31149 |
FusionGeneSummary for RHBDL2_AHCYL2 |
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Fusion gene information | Fusion gene name: RHBDL2_AHCYL2 | Fusion gene ID: 31149 | Hgene | Tgene | Gene symbol | RHBDL2 | AHCYL2 | Gene ID | 54933 | 23382 |
Gene name | rhomboid like 2 | adenosylhomocysteinase like 2 | |
Synonyms | RRP2 | ADOHCYASE3|IRBIT2 | |
Cytomap | 1p34.3 | 7q32.1 | |
Type of gene | protein-coding | protein-coding | |
Description | rhomboid-related protein 2rhomboid (veinlet, Drosophila)-like 2rhomboid protease 2rhomboid, veinlet-like 2rhomboid-like protein 2 | adenosylhomocysteinase 3IP(3)Rs binding protein released with IP(3) 2S-adenosyl-L-homocysteine hydrolase 3S-adenosylhomocysteine hydrolase-like 2long-IRBITputative adenosylhomocysteinase 3 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9NX52 | Q96HN2 | |
Ensembl transtripts involved in fusion gene | ENST00000372990, ENST00000289248, ENST00000538156, ENST00000372985, ENST00000540558, | ENST00000325006, ENST00000446544, ENST00000531335, ENST00000474594, ENST00000446212, ENST00000490911, ENST00000472554, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 7 X 5 X 5=175 |
# samples | 3 | 7 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | CESC | TCGA-VS-A8QF-01A | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000372990 | ENST00000325006 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000372990 | ENST00000446544 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000372990 | ENST00000531335 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000372990 | ENST00000474594 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000372990 | ENST00000446212 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000372990 | ENST00000490911 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-intron | ENST00000372990 | ENST00000472554 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000289248 | ENST00000325006 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000289248 | ENST00000446544 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000289248 | ENST00000531335 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000289248 | ENST00000474594 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000289248 | ENST00000446212 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000289248 | ENST00000490911 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-intron | ENST00000289248 | ENST00000472554 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000538156 | ENST00000325006 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000538156 | ENST00000446544 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000538156 | ENST00000531335 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000538156 | ENST00000474594 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000538156 | ENST00000446212 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000538156 | ENST00000490911 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-intron | ENST00000538156 | ENST00000472554 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000372985 | ENST00000325006 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000372985 | ENST00000446544 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000372985 | ENST00000531335 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000372985 | ENST00000474594 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000372985 | ENST00000446212 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-3CDS | ENST00000372985 | ENST00000490911 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
intron-intron | ENST00000372985 | ENST00000472554 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000540558 | ENST00000325006 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000540558 | ENST00000446544 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000540558 | ENST00000531335 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000540558 | ENST00000474594 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000540558 | ENST00000446212 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-3CDS | ENST00000540558 | ENST00000490911 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
5UTR-intron | ENST00000540558 | ENST00000472554 | RHBDL2 | chr1 | 39407354 | - | AHCYL2 | chr7 | 129062681 | + |
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FusionProtFeatures for RHBDL2_AHCYL2 |
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Hgene | Tgene |
RHBDL2 | AHCYL2 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RHBDL2_AHCYL2 |
![]() (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 RHBDL2_AHCYL2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RHBDL2 | EFNB3, KRAS | AHCYL2 | BAP1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RHBDL2_AHCYL2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RHBDL2_AHCYL2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | AHCYL2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |