FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12823

FusionGeneSummary for FAM50A_HK2

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM50A_HK2
Fusion gene ID: 12823
HgeneTgene
Gene symbol

FAM50A

HK2

Gene ID

9130

29911

Gene namefamily with sequence similarity 50 member Ahook microtubule tethering protein 2
Synonyms9F|DXS9928E|HXC-26|HXC26|XAP5HK2
Cytomap

Xq28

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM50Aprotein XAP-5protein Hook homolog 2h-hook2hHK2hook homolog 2
Modification date2018051920180523
UniProtAcc

Q14320

P52789

Ensembl transtripts involved in fusion geneENST00000393600, ENST00000290573, 
ENST00000409174, 
Fusion gene scores* DoF score4 X 4 X 1=162 X 2 X 2=8
# samples 42
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: FAM50A [Title/Abstract] AND HK2 [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
ChiTaRS3.1Z46376FAM50AchrX

153674037

-HK2chr2

75061284

+
* 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
5CDS-5UTRENST00000393600ENST00000290573FAM50AchrX

153674037

-HK2chr2

75061284

+
5CDS-intronENST00000393600ENST00000409174FAM50AchrX

153674037

-HK2chr2

75061284

+

Top

FusionProtFeatures for FAM50A_HK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM50A

Q14320

HK2

P52789