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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12809

FusionGeneSummary for FAM49B_ASAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM49B_ASAP1
Fusion gene ID: 12809
HgeneTgene
Gene symbol

FAM49B

ASAP1

Gene ID

51571

50807

Gene namefamily with sequence similarity 49 member BArfGAP with SH3 domain, ankyrin repeat and PH domain 1
SynonymsBM-009|L1AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P
Cytomap

8q24.21

8q24.21-q24.22

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM49BFAM49B/JPH1 fusionMTSS1/FAM49B fusionarf-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 date2018051920180523
UniProtAcc

Q9NUQ9

Q9ULH1

Ensembl transtripts involved in fusion geneENST00000519824, ENST00000522746, 
ENST00000523509, ENST00000401979, 
ENST00000519110, ENST00000522250, 
ENST00000517654, ENST00000519540, 
ENST00000522941, ENST00000518879, 
ENST00000357668, ENST00000518721, 
ENST00000520625, 
Fusion gene scores* DoF score13 X 9 X 11=12876 X 6 X 3=108
# samples 166
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVCESCTCGA-C5-A7X5-01AFAM49Bchr8

130983189

-ASAP1chr8

131165051

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000519824ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000519824ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-intronENST00000519824ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000522746ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000522746ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-intronENST00000522746ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000523509ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000523509ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-intronENST00000523509ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000401979ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000401979ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-intronENST00000401979ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000519110ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000519110ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-intronENST00000519110ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000522250ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000522250ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-intronENST00000522250ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000517654ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000517654ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-intronENST00000517654ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000519540ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000519540ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-intronENST00000519540ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000522941ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-3CDSENST00000522941ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
intron-intronENST00000522941ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000518879ENST00000357668FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-3CDSENST00000518879ENST00000518721FAM49Bchr8

130983189

-ASAP1chr8

131165051

-
5UTR-intronENST00000518879ENST00000520625FAM49Bchr8

130983189

-ASAP1chr8

131165051

-

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FusionProtFeatures for FAM49B_ASAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM49B

Q9NUQ9

ASAP1

Q9ULH1

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FAM49B_ASAP1


check button 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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FAM49B_ASAP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
FAM49BMAPK6, ELAVL1, NIF3L1, NUFIP1, DNAAF2, FAM49A, CDK19, UNK, IDH1, MTAP, PKM, SELENBP1, PCBP1, PPIL3, TALDO1, GTF2E2, RAB3IL1, TRIM25ASAP1SRC, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FAM49B_ASAP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FAM49B_ASAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAM49BC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneASAP1C0005695Bladder Neoplasm1CTD_human
TgeneASAP1C0041327Tuberculosis, Pulmonary1CTD_human