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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:BAIAP2-ACTG1 (FusionGDB2 ID:HG10458TG71) |
Fusion Gene Summary for BAIAP2-ACTG1 |
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Fusion gene information | Fusion gene name: BAIAP2-ACTG1 | Fusion gene ID: hg10458tg71 | Hgene | Tgene | Gene symbol | BAIAP2 | ACTG1 | Gene ID | 10458 | 71 |
Gene name | BAR/IMD domain containing adaptor protein 2 | actin gamma 1 | |
Synonyms | BAP2|FLAF3|IRSP53|WAML | ACT|ACTG|DFNA20|DFNA26|HEL-176 | |
Cytomap | ('BAIAP2')('ACTG1') 17q25.3 | 17q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | brain-specific angiogenesis inhibitor 1-associated protein 2BAI1 associated protein 2IRS-58IRSp53/58WASP and MIM likefas ligand-associated factor 3insulin receptor substrate of 53 kDainsulin receptor substrate p53/p58insulin receptor substrate pro | actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176 | |
Modification date | 20200327 | 20200327 | |
UniProtAcc | Q9UQB8 | P63261 | |
Ensembl transtripts involved in fusion gene | ENST00000573894, ENST00000321280, ENST00000321300, ENST00000428708, ENST00000435091, ENST00000575245, ENST00000575712, ENST00000392411, ENST00000416299, | ||
Fusion gene scores | * DoF score | 6 X 6 X 7=252 | 40 X 34 X 12=16320 |
# samples | 10 | 47 | |
** MAII score | log2(10/252*10)=-1.33342373372519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(47/16320*10)=-5.11783649029386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BAIAP2 [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BAIAP2(79009108)-ACTG1(79479386), # 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 |
ChimerDB4 | ESCA | TCGA-IG-A8O2 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
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Fusion Gene ORF analysis for BAIAP2-ACTG1 |
![]() * 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 |
3UTR-5UTR | ENST00000573894 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
3UTR-5UTR | ENST00000573894 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
3UTR-5UTR | ENST00000573894 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
3UTR-5UTR | ENST00000573894 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321280 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321280 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321280 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321280 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321300 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321300 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321300 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000321300 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000428708 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000428708 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000428708 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000428708 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000435091 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000435091 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000435091 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000435091 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575245 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575245 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575245 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575245 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575712 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575712 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575712 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5CDS-5UTR | ENST00000575712 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5UTR-5UTR | ENST00000392411 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5UTR-5UTR | ENST00000392411 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5UTR-5UTR | ENST00000392411 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
5UTR-5UTR | ENST00000392411 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
intron-5UTR | ENST00000416299 | ENST00000331925 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
intron-5UTR | ENST00000416299 | ENST00000573283 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
intron-5UTR | ENST00000416299 | ENST00000575087 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
intron-5UTR | ENST00000416299 | ENST00000575842 | BAIAP2 | chr17 | 79009108 | + | ACTG1 | chr17 | 79479386 | - |
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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 BAIAP2-ACTG1 |
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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 BAIAP2-ACTG1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:79009108/:79479386) - 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 |
BAIAP2 | ACTG1 |
FUNCTION: Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions. {ECO:0000269|PubMed:11130076, ECO:0000269|PubMed:11696321, ECO:0000269|PubMed:14752106, ECO:0000269|PubMed:17115031, ECO:0000269|PubMed:19366662}. | FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}. |
![]() * 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 BAIAP2-ACTG1 |
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Fusion Gene PPI Analysis for BAIAP2-ACTG1 |
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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 BAIAP2-ACTG1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ACTG1 | P63261 | DB09130 | Copper | Small molecule | Approved|Investigational | |
Tgene | ACTG1 | P63261 | DB09130 | Copper | Small molecule | Approved|Investigational |
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Related Diseases for BAIAP2-ACTG1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C3711374 | Nonsyndromic Deafness | 18 | CLINGEN | |
Tgene | C1858172 | Deafness, Autosomal Dominant 20 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C3281235 | BARAITSER-WINTER SYNDROME 2 | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human | |
Tgene | C0005745 | Blepharoptosis | 1 | GENOMICS_ENGLAND | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human | |
Tgene | C0014544 | Epilepsy | 1 | GENOMICS_ENGLAND | |
Tgene | C0024433 | Macrostomia | 1 | GENOMICS_ENGLAND | |
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 | C0033377 | Ptosis | 1 | GENOMICS_ENGLAND | |
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 | C0240583 | Short upturned nose | 1 | GENOMICS_ENGLAND | |
Tgene | C0265541 | Cranioschisis | 1 | CTD_human | |
Tgene | C0266551 | Congenital coloboma of iris | 1 | ORPHANET | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0497552 | Congenital neurologic anomalies | 1 | CTD_human | |
Tgene | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human | |
Tgene | C0857379 | Abnormality of the pinna | 1 | GENOMICS_ENGLAND | |
Tgene | C0948089 | Acute Coronary Syndrome | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND | |
Tgene | C1843156 | Progressive sensorineural hearing impairment | 1 | GENOMICS_ENGLAND | |
Tgene | C1844505 | Pointed chin | 1 | GENOMICS_ENGLAND | |
Tgene | C1849340 | Long palpebral fissure | 1 | GENOMICS_ENGLAND | |
Tgene | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET | |
Tgene | C1865014 | Long philtrum | 1 | GENOMICS_ENGLAND | |
Tgene | C1865017 | Thin upper lip vermilion | 1 | GENOMICS_ENGLAND | |
Tgene | C1868571 | Highly arched eyebrow | 1 | GENOMICS_ENGLAND | |
Tgene | C1970280 | Hearing loss begins with loss of high frequencies | 1 | GENOMICS_ENGLAND | |
Tgene | C1970281 | Audiogram shows sloping configuration | 1 | GENOMICS_ENGLAND | |
Tgene | C1970282 | Deafness, profound, by 6th decade | 1 | GENOMICS_ENGLAND | |
Tgene | C3279369 | Microphthalmia (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C3549665 | Deafness (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C3808883 | Short neck (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4012410 | Enlarged ventricles (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4229649 | Heart defect (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4229650 | Pterygium colli (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4229651 | Hypertelorism/telecanthus | 1 | GENOMICS_ENGLAND | |
Tgene | C4229652 | Eye coloboma (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4229653 | Trigonocephaly/metopic ridge | 1 | GENOMICS_ENGLAND | |
Tgene | C4231117 | Pectus (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4231118 | Kyphosis/scoliosis (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4231120 | Prominent nasal root on profile | 1 | GENOMICS_ENGLAND | |
Tgene | C4231121 | Large, squared nose tip | 1 | GENOMICS_ENGLAND | |
Tgene | C4231123 | Retrognathia (in some patients) | 1 | GENOMICS_ENGLAND | |
Tgene | C4231124 | Prominent/full/wide cheeks | 1 | GENOMICS_ENGLAND | |
Tgene | C4554007 | Uveoretinal Coloboma | 1 | CTD_human | |
Tgene | C4708599 | Coloboma of choroid and retina | 1 | ORPHANET |