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Fusion gene ID: 826 |
FusionGeneSummary for ADCY2_SAMM50 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ADCY2_SAMM50 | Fusion gene ID: 826 | Hgene | Tgene | Gene symbol | ADCY2 | SAMM50 | Gene ID | 108 | 25813 |
Gene name | adenylate cyclase 2 | SAMM50 sorting and assembly machinery component | |
Synonyms | AC2|HBAC2 | CGI-51|OMP85|SAM50|TOB55|TRG-3|YNL026W | |
Cytomap | 5p15.31 | 22q13.31 | |
Type of gene | protein-coding | protein-coding | |
Description | adenylate cyclase type 23',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 2adenylate cyclase 2 (brain)adenylate cyclase IIadenylate cyclase type IIadenylyl cyclase 2type II adenylate cyclase | sorting and assembly machinery component 50 homologsorting and assembly machinery 50kDatransformation-related gene 3 protein | |
Modification date | 20180522 | 20180527 | |
UniProtAcc | Q08462 | Q9Y512 | |
Ensembl transtripts involved in fusion gene | ENST00000338316, ENST00000537121, ENST00000513693, | ENST00000350028, ENST00000493161, ENST00000396202, | |
Fusion gene scores | * DoF score | 20 X 19 X 5=1900 | 5 X 5 X 4=100 |
# samples | 21 | 5 | |
** MAII score | log2(21/1900*10)=-3.17753818555219 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ADCY2 [Title/Abstract] AND SAMM50 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SAMM50 | GO:0045040 | protein import into mitochondrial outer membrane | 15644312 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SKCM | TCGA-FS-A4F4-06A | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000338316 | ENST00000350028 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
5CDS-intron | ENST00000338316 | ENST00000493161 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
5CDS-5UTR | ENST00000338316 | ENST00000396202 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
intron-3CDS | ENST00000537121 | ENST00000350028 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
intron-intron | ENST00000537121 | ENST00000493161 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
intron-5UTR | ENST00000537121 | ENST00000396202 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
intron-3CDS | ENST00000513693 | ENST00000350028 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
intron-intron | ENST00000513693 | ENST00000493161 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
intron-5UTR | ENST00000513693 | ENST00000396202 | ADCY2 | chr5 | 7414883 | + | SAMM50 | chr22 | 44359166 | + |
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FusionProtFeatures for ADCY2_SAMM50 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ADCY2 | SAMM50 |
Catalyzes the formation of the signaling molecule cAMPin response to G-protein signaling (PubMed:15385642). Down-streamsignaling cascades mediate changes in gene expression patterns andlead to increased IL6 production. Functions in signaling cascadesdownstream of the muscarinic acetylcholine receptors (Bysimilarity). {ECO:0000250|UniProtKB:P26769,ECO:0000269|PubMed:15385642}. | Plays a crucial role in the maintenance of the structureof mitochondrial cristae and the proper assembly of themitochondrial respiratory chain complexes (PubMed:22252321,PubMed:25781180). Required for the assembly of TOMM40 into the TOMcomplex (PubMed:15644312). {ECO:0000269|PubMed:15644312,ECO:0000269|PubMed:22252321, ECO:0000269|PubMed:25781180}. |
Retention 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 . * 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 |
Hgene | ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 1_45 | 136 | 1092 | Topological domain | Cytoplasmic |
Hgene | ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 108_128 | 136 | 1092 | Transmembrane | Helical |
Hgene | ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 46_66 | 136 | 1092 | Transmembrane | Helical |
Hgene | ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 76_96 | 136 | 1092 | Transmembrane | Helical |
Tgene | >SAMM50 | chr5:7414883 | chr22:44359166 | ENST00000350028 | + | 0 | 15 | 45_125 | 7 | 470 | Domain | POTRA |
- 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 |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 1019_1021 | 136 | 1092 | Nucleotide binding | ATP |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 1026_1030 | 136 | 1092 | Nucleotide binding | ATP |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 295_300 | 136 | 1092 | Nucleotide binding | ATP |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 337_339 | 136 | 1092 | Nucleotide binding | ATP |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 208_601 | 136 | 1092 | Topological domain | Cytoplasmic |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 822_1091 | 136 | 1092 | Topological domain | Cytoplasmic |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 133_153 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 159_179 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 187_207 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 602_622 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 628_652 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 680_701 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 734_755 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 763_780 | 136 | 1092 | Transmembrane | Helical |
Hgene | >ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 801_821 | 136 | 1092 | Transmembrane | Helical |
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FusionGeneSequence for ADCY2_SAMM50 |
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. |
>In-frame_ADCY2_ENST00000338316_chr5_7414883_+_SAMM50_ENST00000350028_chr22_44359166_+_599aa MWQEAMRRRRYLRDRSEEAAGGGDGLPRSRDWLYESYYCMSQQHPLIVFLLLIVMGSCLALLAVFFALGLEVEDHVAFLITVPTALAIFF AIFILVCIESVFKKLLRLFSLVIWICLVAMGYLFMCFGGTVSPWDQSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVH FDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEG SMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHTVKWEGV WRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGG MLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGP |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ADCY2_ENST00000338316_chr5_7414883_+_SAMM50_ENST00000350028_chr22_44359166_+_1797nt ATGTGGCAGGAGGCGATGCGGCGCCGCCGCTACCTGCGGGACCGCTCCGAGGAGGCGGCGGGCGGCGGAGACGGGCTGCCGCGGTCCCGG GACTGGCTCTACGAGTCCTACTACTGCATGAGCCAGCAGCACCCGCTCATCGTCTTCCTGCTGCTCATCGTCATGGGCTCCTGCCTCGCC CTGCTCGCCGTCTTCTTCGCGCTCGGGCTGGAAGTTGAAGACCATGTGGCGTTTCTAATAACAGTTCCAACTGCCCTGGCGATTTTCTTT GCGATATTTATCCTGGTCTGCATCGAGTCTGTGTTTAAGAAGCTGCTGCGCCTCTTCTCGTTGGTGATATGGATATGCCTTGTTGCCATG GGATACCTGTTCATGTGTTTTGGAGGCACCGTCTCTCCCTGGGACCAGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGA TTAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCAT TTTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGG AAATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCA CTTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGC AGTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCG TATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGG AGCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTA TGGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCC ATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGG GATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGA ATGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCAC AGCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGG CCAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCC AAAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ADCY2_ENST00000338316_chr5_7414883_+_SAMM50_ENST00000350028_chr22_44359166_+_2036nt AGGCGGCGCGGGGGTGGGACGCGGGCGGCCGCGGCGAGCGGCGCTGCCCGGGCCGGGCGCGCACGGCGGGCGCCCTGTGAGCGGCCCCGA TGTGGCAGGAGGCGATGCGGCGCCGCCGCTACCTGCGGGACCGCTCCGAGGAGGCGGCGGGCGGCGGAGACGGGCTGCCGCGGTCCCGGG ACTGGCTCTACGAGTCCTACTACTGCATGAGCCAGCAGCACCCGCTCATCGTCTTCCTGCTGCTCATCGTCATGGGCTCCTGCCTCGCCC TGCTCGCCGTCTTCTTCGCGCTCGGGCTGGAAGTTGAAGACCATGTGGCGTTTCTAATAACAGTTCCAACTGCCCTGGCGATTTTCTTTG CGATATTTATCCTGGTCTGCATCGAGTCTGTGTTTAAGAAGCTGCTGCGCCTCTTCTCGTTGGTGATATGGATATGCCTTGTTGCCATGG GATACCTGTTCATGTGTTTTGGAGGCACCGTCTCTCCCTGGGACCAGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGAT TAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATT TTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGGA AATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCAC TTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGCA GTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGT ATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGA GCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTAT GGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCA TGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGGG ATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGAA TGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCACA GCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGC CAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCCA AAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAAC TTAATTACTGCGTCCCCATGGGAGTACAGACAGGCGACAGGATATGTGATGGCGTCCAGTTTGGAGCTGGGATAAGGTTCCTGTAGCCGA CACCCCTACAGGAGAAGCTCTGGGACTGGGGCAGCAGCAAGGCGCCCATGCCACACACCGTCTCTCGAGGAAACGCGGTTCAGCGATTCT |
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FusionGenePPI for ADCY2_SAMM50 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ADCY2 | ADCY5, GNAS | SAMM50 | MEOX2, MINOS1, TOMM22, NDUFS8, MRPL11, NDUFS3, SSBP1, SDHA, HSPA8, MRPS11, CYC1, SURF1, RPS23, NDUFB8, TOMM40, HNRNPM, SQRDL, SERINC1, HNRNPUL1, RHOT2, SLC25A17, CLN3, NPM1, CHCHD3, SUZ12, EGFR, TIMMDC1, MTX2, C19orf70, APOOL, C15orf48, NDUFA4, DUSP22, MTM1, RAB8A |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 905_922 | 136 | 1092 | GNAS |
Hgene | ADCY2 | chr5:7414883 | chr22:44359166 | ENST00000338316 | + | 2 | 25 | 990_993 | 136 | 1092 | GNAS |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ADCY2_SAMM50 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ADCY2 | Q08462 | DB09121 | Aurothioglucose | Adenylate cyclase type 2 | small molecule | approved|withdrawn |
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RelatedDiseases for ADCY2_SAMM50 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ADCY2 | C0004096 | Asthma | 1 | CTD_human |
Hgene | ADCY2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |