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Fusion gene ID: 12809 |
FusionGeneSummary for FAM49B_ASAP1 |
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Fusion gene information | Fusion gene name: FAM49B_ASAP1 | Fusion gene ID: 12809 | Hgene | Tgene | Gene symbol | FAM49B | ASAP1 | Gene ID | 51571 | 50807 |
Gene name | family with sequence similarity 49 member B | ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 | |
Synonyms | BM-009|L1 | AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P | |
Cytomap | 8q24.21 | 8q24.21-q24.22 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FAM49BFAM49B/JPH1 fusionMTSS1/FAM49B fusion | arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosyl | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9NUQ9 | Q9ULH1 | |
Ensembl transtripts involved in fusion gene | ENST00000519824, ENST00000522746, ENST00000523509, ENST00000401979, ENST00000519110, ENST00000522250, ENST00000517654, ENST00000519540, ENST00000522941, ENST00000518879, | ENST00000357668, ENST00000518721, ENST00000520625, | |
Fusion gene scores | * DoF score | 13 X 9 X 11=1287 | 6 X 6 X 3=108 |
# samples | 16 | 6 | |
** MAII score | log2(16/1287*10)=-3.00786824333334 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FAM49B [Title/Abstract] AND ASAP1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | CESC | TCGA-C5-A7X5-01A | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-3CDS | ENST00000519824 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000519824 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-intron | ENST00000519824 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000522746 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000522746 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-intron | ENST00000522746 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000523509 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000523509 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-intron | ENST00000523509 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000401979 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000401979 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-intron | ENST00000401979 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000519110 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000519110 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-intron | ENST00000519110 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000522250 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000522250 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-intron | ENST00000522250 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000517654 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000517654 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-intron | ENST00000517654 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000519540 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000519540 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-intron | ENST00000519540 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000522941 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-3CDS | ENST00000522941 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
intron-intron | ENST00000522941 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000518879 | ENST00000357668 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-3CDS | ENST00000518879 | ENST00000518721 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
5UTR-intron | ENST00000518879 | ENST00000520625 | FAM49B | chr8 | 130983189 | - | ASAP1 | chr8 | 131165051 | - |
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FusionProtFeatures for FAM49B_ASAP1 |
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Hgene | Tgene |
FAM49B | ASAP1 |
Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADPribosylation factor 1) and ARF5 and a lesser activity towardsARF6. May coordinate membrane trafficking with cell growth oractin cytoskeleton remodeling by binding to both SRC and PIP2. Mayfunction as a signal transduction protein involved in thedifferentiation of fibroblasts into adipocytes and possibly othercell types (By similarity). Plays a role in ciliogenesis.{ECO:0000250, ECO:0000269|PubMed:20393563}. |
![]() * 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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FusionGeneSequence for FAM49B_ASAP1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for FAM49B_ASAP1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FAM49B | MAPK6, ELAVL1, NIF3L1, NUFIP1, DNAAF2, FAM49A, CDK19, UNK, IDH1, MTAP, PKM, SELENBP1, PCBP1, PPIL3, TALDO1, GTF2E2, RAB3IL1, TRIM25 | ASAP1 | SRC, CRK, PXN, PACSIN1, PACSIN2, PACSIN3, TRIP10, FCHSD1, GRB2, ARF6, ELAVL1, SH3KBP1, CBL, CBLB, ARAP3, CTTN, PTK2, LRRK1, NCK2, NTRK1, RAB11FIP3, RAB11FIP1, RAB11FIP2, CDH1, PTPN12, ASAP3, TRIM25, ARF1 |
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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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RelatedDrugs for FAM49B_ASAP1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FAM49B_ASAP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FAM49B | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | ASAP1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Tgene | ASAP1 | C0041327 | Tuberculosis, Pulmonary | 1 | CTD_human |