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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:ANKRD31-PCDH15 (FusionGDB2 ID:HG256006TG65217) |
Fusion Gene Summary for ANKRD31-PCDH15 |
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Fusion gene information | Fusion gene name: ANKRD31-PCDH15 | Fusion gene ID: hg256006tg65217 | Hgene | Tgene | Gene symbol | ANKRD31 | PCDH15 | Gene ID | 256006 | 65217 |
Gene name | ankyrin repeat domain 31 | protocadherin related 15 | |
Synonyms | - | CDHR15|DFNB23|USH1F | |
Cytomap | ('ANKRD31')('PCDH15') 5q13.3 | 10q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ankyrin repeat domain-containing protein 31putative ankyrin repeat domain-containing protein 31 | protocadherin-15cadherin-related family member 15 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q8N7Z5 | . | |
Ensembl transtripts involved in fusion gene | ENST00000274361, ENST00000504022, ENST00000506364, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 19 X 18 X 5=1710 |
# samples | 1 | 20 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(20/1710*10)=-3.09592441999854 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ANKRD31 [Title/Abstract] AND PCDH15 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ANKRD31(74390597)-PCDH15(57084066), # 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 |
![]() * 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 ANKRD31-PCDH15 |
![]() * 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 ANKRD31-PCDH15 |
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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 ANKRD31-PCDH15 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74390597/:57084066) - 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 |
ANKRD31 | . |
FUNCTION: Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes. {ECO:0000250|UniProtKB:A0A140LI88}. | 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}. |
![]() * 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 ANKRD31-PCDH15 |
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Fusion Gene PPI Analysis for ANKRD31-PCDH15 |
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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 ANKRD31-PCDH15 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ANKRD31-PCDH15 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C3711374 | Nonsyndromic Deafness | 20 | CLINGEN | |
Tgene | C0154860 | Hereditary retinal dystrophy | 7 | CLINGEN | |
Tgene | C1568247 | Usher Syndrome, Type I | 7 | CLINGEN | |
Tgene | C1848638 | USHER SYNDROME, TYPE IB (disorder) | 7 | CLINGEN | |
Tgene | C1848639 | USHER SYNDROME, TYPE IA, FORMERLY | 7 | CLINGEN | |
Tgene | C1848640 | USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY | 7 | CLINGEN | |
Tgene | C1836027 | Deafness, Autosomal Recessive 23 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1832845 | USHER SYNDROME, TYPE ID | 3 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1865885 | Usher Syndrome, Type IF | 3 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1384666 | hearing impairment | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0009197 | Cochlear Diseases | 1 | CTD_human | |
Tgene | C0011052 | Prelingual Deafness | 1 | CTD_human | |
Tgene | C0011053 | Deafness | 1 | CTD_human | |
Tgene | C0013146 | Drug abuse | 1 | CTD_human | |
Tgene | C0013170 | Drug habituation | 1 | CTD_human | |
Tgene | C0013222 | Drug Use Disorders | 1 | CTD_human | |
Tgene | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human | |
Tgene | C0038580 | Substance Dependence | 1 | CTD_human | |
Tgene | C0038586 | Substance Use Disorders | 1 | CTD_human | |
Tgene | C0086395 | Hearing Loss, Extreme | 1 | CTD_human | |
Tgene | C0236969 | Substance-Related Disorders | 1 | CTD_human | |
Tgene | C0271097 | Usher Syndrome | 1 | CTD_human | |
Tgene | C0581883 | Complete Hearing Loss | 1 | CTD_human | |
Tgene | C0740858 | Substance abuse problem | 1 | CTD_human | |
Tgene | C0751068 | Deafness, Acquired | 1 | CTD_human | |
Tgene | C1510472 | Drug Dependence | 1 | CTD_human | |
Tgene | C1568248 | Usher Syndrome, Type III | 1 | CTD_human | |
Tgene | C1568249 | Usher Syndrome, Type II | 1 | CTD_human | |
Tgene | C2931205 | Usher syndrome, type 1A | 1 | CTD_human | |
Tgene | C3665473 | Bilateral Deafness | 1 | CTD_human | |
Tgene | C4082305 | Deaf Mutism | 1 | CTD_human | |
Tgene | C4316881 | Prescription Drug Abuse | 1 | CTD_human |