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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:SPATC1L-ADCY5 (FusionGDB2 ID:HG84221TG111) |
Fusion Gene Summary for SPATC1L-ADCY5 |
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Fusion gene information | Fusion gene name: SPATC1L-ADCY5 | Fusion gene ID: hg84221tg111 | Hgene | Tgene | Gene symbol | SPATC1L | ADCY5 | Gene ID | 84221 | 111 |
Gene name | spermatogenesis and centriole associated 1 like | adenylate cyclase 5 | |
Synonyms | C21orf56 | AC5|FDFM | |
Cytomap | ('SPATC1L')('ADCY5') 21q22.3 | 3q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | speriolin-like proteinspermatogenesis and centriole-associated protein 1-like protein | adenylate cyclase type 5ATP pyrophosphate-lyase 5adenylate cyclase type Vadenylyl cyclase 5epididymis secretory sperm binding protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | O95622 | |
Ensembl transtripts involved in fusion gene | ENST00000330205, ENST00000291672, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 6 X 3=108 |
# samples | 2 | 7 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SPATC1L [Title/Abstract] AND ADCY5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | SPATC1L(47581062)-ADCY5(123127219), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
Tgene | ADCY5 | GO:0006171 | cAMP biosynthetic process | 15385642|24700542 |
Tgene | ADCY5 | GO:1904322 | cellular response to forskolin | 15385642|24700542 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for SPATC1L-ADCY5 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for SPATC1L-ADCY5 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for SPATC1L-ADCY5 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:47581062/:123127219) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | ADCY5 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569). {ECO:0000269|PubMed:15385642, ECO:0000269|PubMed:24700542, ECO:0000269|PubMed:24740569, ECO:0000269|PubMed:26206488}. |
![]() * 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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Fusion Gene Sequence for SPATC1L-ADCY5 |
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Fusion Gene PPI Analysis for SPATC1L-ADCY5 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for SPATC1L-ADCY5 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ADCY5 | O95622 | DB09121 | Aurothioglucose | Small molecule | Approved|Withdrawn |
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Related Diseases for SPATC1L-ADCY5 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SPATC1L | C0011053 | Deafness | 1 | GENOMICS_ENGLAND |
Tgene | C1847627 | Dyskinesia, Familial, with Facial Myokymia | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0011570 | Mental Depression | 2 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 2 | PSYGENET | |
Tgene | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human | |
Tgene | C0033141 | Cardiomyopathies, Primary | 2 | CTD_human | |
Tgene | C0036529 | Myocardial Diseases, Secondary | 2 | CTD_human | |
Tgene | C0878544 | Cardiomyopathies | 2 | CTD_human | |
Tgene | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human | |
Tgene | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET | |
Tgene | C0005612 | Birth Weight | 1 | CTD_human | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0013421 | Dystonia | 1 | GENOMICS_ENGLAND | |
Tgene | C0016059 | Fibrosis | 1 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0029456 | Osteoporosis | 1 | CTD_human | |
Tgene | C0029459 | Osteoporosis, Senile | 1 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 1 | PSYGENET | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human | |
Tgene | C0393584 | Benign Hereditary Chorea | 1 | ORPHANET | |
Tgene | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C1269683 | Major Depressive Disorder | 1 | PSYGENET | |
Tgene | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human | |
Tgene | C1623038 | Cirrhosis | 1 | CTD_human | |
Tgene | C1859098 | Chorea, Benign Familial | 1 | ORPHANET |