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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: 12808

FusionGeneSummary for FAM49B_AK5

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM49B_AK5
Fusion gene ID: 12808
HgeneTgene
Gene symbol

FAM49B

AK5

Gene ID

51571

26289

Gene namefamily with sequence similarity 49 member Badenylate kinase 5
SynonymsBM-009|L1AK6
Cytomap

8q24.21

1p31.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM49BFAM49B/JPH1 fusionMTSS1/FAM49B fusionadenylate kinase isoenzyme 5AK 5ATP-AMP transphosphorylase 5adenylate kinase 6
Modification date2018051920180519
UniProtAcc

Q9NUQ9

Q9Y6K8

Ensembl transtripts involved in fusion geneENST00000519824, ENST00000522746, 
ENST00000523509, ENST00000401979, 
ENST00000519110, ENST00000522250, 
ENST00000517654, ENST00000519540, 
ENST00000522941, ENST00000518879, 
ENST00000354567, ENST00000344720, 
ENST00000317704, ENST00000478255, 
Fusion gene scores* DoF score13 X 9 X 11=12875 X 3 X 4=60
# samples 165
** MAII scorelog2(16/1287*10)=-3.00786824333334
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM49B [Title/Abstract] AND AK5 [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
TgeneAK5

GO:0006165

nucleoside diphosphate phosphorylation

23416111

TgeneAK5

GO:0009142

nucleoside triphosphate biosynthetic process

23416111


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
TCGARVBLCATCGA-DK-A3IM-01AFAM49Bchr8

130915558

-AK5chr1

77949002

+
* 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
5UTR-3CDSENST00000519824ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000519824ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000519824ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000519824ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000522746ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000522746ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000522746ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000522746ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000523509ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000523509ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000523509ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000523509ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000401979ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000401979ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000401979ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000401979ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000519110ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000519110ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000519110ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000519110ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
intron-3CDSENST00000522250ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
intron-3CDSENST00000522250ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
intron-intronENST00000522250ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
intron-intronENST00000522250ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000517654ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000517654ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000517654ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000517654ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000519540ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000519540ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000519540ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000519540ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000522941ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000522941ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000522941ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000522941ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000518879ENST00000354567FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-3CDSENST00000518879ENST00000344720FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000518879ENST00000317704FAM49Bchr8

130915558

-AK5chr1

77949002

+
5UTR-intronENST00000518879ENST00000478255FAM49Bchr8

130915558

-AK5chr1

77949002

+

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FusionProtFeatures for FAM49B_AK5


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

Q9NUQ9

AK5

Q9Y6K8

Nucleoside monophosphate (NMP) kinase that catalyzes thereversible transfer of the terminal phosphate group betweennucleoside triphosphates and monophosphates. Active on AMP anddAMP with ATP as a donor. When GTP is used as phosphate donor, theenzyme phosphorylates AMP, CMP, and to a small extent dCMP. Alsodisplays broad nucleoside diphosphate kinase activity.{ECO:0000269|PubMed:19647735, ECO:0000269|PubMed:23416111}.

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_AK5


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_AK5


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, TRIM25AK5C7orf26, CPNE6, NUCKS1, STRN4, TRIM46, UGDH, RNF114, CEBPA


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_AK5


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_AK5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAM49BC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAK5C0236733Amphetamine-Related Disorders1CTD_human