|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 954 |
FusionGeneSummary for ADSL_PVALB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADSL_PVALB | Fusion gene ID: 954 | Hgene | Tgene | Gene symbol | ADSL | PVALB | Gene ID | 158 | 5816 |
| Gene name | adenylosuccinate lyase | parvalbumin | |
| Synonyms | AMPS|ASASE|ASL | D22S749 | |
| Cytomap | 22q13.1 | 22q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | adenylosuccinate lyaseadenylosuccinase | parvalbumin alpha | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P30566 | P20472 | |
| Ensembl transtripts involved in fusion gene | ENST00000216194, ENST00000454266, ENST00000342312, ENST00000480775, | ENST00000417718, ENST00000216200, ENST00000404171, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 3 X 2=18 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ADSL [Title/Abstract] AND PVALB [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 |
| Hgene | ADSL | GO:0006167 | AMP biosynthetic process | 11428554 |
| Hgene | ADSL | GO:0051262 | protein tetramerization | 16973378 |
| 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 | RV | OV | TCGA-61-2111-01A | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| * 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 | ENST00000216194 | ENST00000417718 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| Frame-shift | ENST00000216194 | ENST00000216200 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| In-frame | ENST00000216194 | ENST00000404171 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| In-frame | ENST00000454266 | ENST00000417718 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| Frame-shift | ENST00000454266 | ENST00000216200 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| In-frame | ENST00000454266 | ENST00000404171 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| In-frame | ENST00000342312 | ENST00000417718 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| Frame-shift | ENST00000342312 | ENST00000216200 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| In-frame | ENST00000342312 | ENST00000404171 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| intron-3CDS | ENST00000480775 | ENST00000417718 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| intron-3CDS | ENST00000480775 | ENST00000216200 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
| intron-3CDS | ENST00000480775 | ENST00000404171 | ADSL | chr22 | 40742715 | + | PVALB | chr22 | 37196962 | - |
Top |
FusionProtFeatures for ADSL_PVALB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADSL | PVALB |
| Catalyzes two non-sequential steps in de novo AMPsynthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarateplus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, andthereby also contributes to de novo IMP synthesis, and convertssuccinyladenosine monophosphate (SAMP) to AMP and fumarate.{ECO:0000269|PubMed:10888601}. | In muscle, parvalbumin is thought to be involved inrelaxation after contraction. It binds two calcium ions. |
| 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 | ADSL | chr22:40742715 | chr22:37196962 | ENST00000216194 | + | 1 | 13 | 20_21 | 51 | 485 | Region | Note=Substrate binding%3B shared with neighboring subunit |
| Hgene | ADSL | chr22:40742715 | chr22:37196962 | ENST00000342312 | + | 1 | 12 | 20_21 | 51 | 426 | Region | Note=Substrate binding%3B shared with neighboring subunit |
| - 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 | >ADSL | chr22:40742715 | chr22:37196962 | ENST00000216194 | + | 1 | 13 | 111_112 | 51 | 485 | Region | Note=Substrate binding |
| Hgene | >ADSL | chr22:40742715 | chr22:37196962 | ENST00000216194 | + | 1 | 13 | 85_87 | 51 | 485 | Region | Note=Substrate binding |
| Hgene | >ADSL | chr22:40742715 | chr22:37196962 | ENST00000342312 | + | 1 | 12 | 111_112 | 51 | 426 | Region | Note=Substrate binding |
| Hgene | >ADSL | chr22:40742715 | chr22:37196962 | ENST00000342312 | + | 1 | 12 | 85_87 | 51 | 426 | Region | Note=Substrate binding |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000216200 | - | 3 | 5 | 52_63 | 101 | 111 | Calcium binding | Note=1 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000216200 | - | 3 | 5 | 91_102 | 101 | 111 | Calcium binding | Note=2 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000417718 | - | 2 | 4 | 52_63 | 101 | 111 | Calcium binding | Note=1 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000417718 | - | 2 | 4 | 91_102 | 101 | 111 | Calcium binding | Note=2 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000216200 | - | 3 | 5 | 39_74 | 101 | 111 | Domain | EF-hand 1 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000216200 | - | 3 | 5 | 78_110 | 101 | 111 | Domain | EF-hand 2 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000417718 | - | 2 | 4 | 39_74 | 101 | 111 | Domain | EF-hand 1 |
| Tgene | PVALB | chr22:40742715 | chr22:37196962 | ENST00000417718 | - | 2 | 4 | 78_110 | 101 | 111 | Domain | EF-hand 2 |
Top |
FusionGeneSequence for ADSL_PVALB |
| 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_ADSL_ENST00000216194_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_60aa >In-frame_ADSL_ENST00000216194_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_60aa >In-frame_ADSL_ENST00000454266_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_60aa >In-frame_ADSL_ENST00000454266_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_60aa >In-frame_ADSL_ENST00000342312_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_60aa >In-frame_ADSL_ENST00000342312_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_60aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ADSL_ENST00000216194_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_182nt ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTT AGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCT >In-frame_ADSL_ENST00000216194_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_182nt ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTT AGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCT >In-frame_ADSL_ENST00000454266_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_182nt ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTT AGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCT >In-frame_ADSL_ENST00000454266_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_182nt ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTT AGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCT >In-frame_ADSL_ENST00000342312_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_182nt ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTT AGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCT >In-frame_ADSL_ENST00000342312_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_182nt ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTT AGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ADSL_ENST00000216194_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_444nt TTTCCGCTTCCGCTCTTCCCTGGTCCAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACA GCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGC TGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCT CTGCCCTGAACACCCAATCTCGGCCCCTCTCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCT >In-frame_ADSL_ENST00000216194_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_361nt TTTCCGCTTCCGCTCTTCCCTGGTCCAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACA GCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGC TGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCT CTGCCCTGAACACCCAATCTCGGCCCCTCTCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCT >In-frame_ADSL_ENST00000454266_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_419nt CAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCG CTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGA GCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCC CCTCTCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCTGTGGCCCTCTAATGACACCATTCTT >In-frame_ADSL_ENST00000454266_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_336nt CAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCG CTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGA GCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCC >In-frame_ADSL_ENST00000342312_chr22_40742715_+_PVALB_ENST00000417718_chr22_37196962_-_415nt CCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTAT GCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAG AATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCCCCTC TCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCTGTGGCCCTCTAATGACACCATTCTTCTGG >In-frame_ADSL_ENST00000342312_chr22_40742715_+_PVALB_ENST00000404171_chr22_37196962_-_332nt CCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTAT GCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAG AATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCCCCTC |
Top |
FusionGenePPI for ADSL_PVALB |
| 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 |
| ADSL | USP15, USP4, DDA1, UBC, TYMS, NOV, CTSC, DNAJB1, DRG2, EHD4, EIF1AX, GTF2I, NPLOC4, PDE12, PLIN3, RAD23B, SAE1, UBQLN2, XPNPEP1, API5, BTF3L4, NT5C2, OXSR1, PAIP1, TWF1, WARS, WDR4, CALCOCO2, REL, NXF1, KLHL20, COMTD1, TEKT4, TEKT2, ABAT, CRIP1, G3BP1, G3BP2, GART, GPT2, LDHB, PFAS, RPE, SOD1, ALDH8A1, ATIC, PAICS, TPI1, NTRK1, MED4, SSX2IP, OFD1, CEP104, CEP152, CNTROB, FGFR1OP, CEP128, CEP135, CEP89, FBF1, RPGRIP1, CENPJ, MCM2, OTUB1, MTMR7, SNRNP27, FGB, ALOX5, USP47, GTF2E2, TRIM25 | PVALB | SREBF1 |
| - 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 |
| - 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 |
Top |
RelatedDrugs for ADSL_PVALB |
| 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 |
Top |
RelatedDiseases for ADSL_PVALB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ADSL | C0268126 | Adenylosuccinate lyase deficiency (disorder) | 8 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ADSL | C0004352 | Autistic Disorder | 1 | CTD_human;HPO |
| Tgene | PVALB | C0005586 | Bipolar Disorder | 1 | CTD_human |
| Tgene | PVALB | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | PVALB | C0033975 | Psychotic Disorders | 1 | CTD_human |
| Tgene | PVALB | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | PVALB | C0036572 | Seizures | 1 | CTD_human |
| Tgene | PVALB | C1510502 | Oxyphilic Adenoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|