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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: 12584

FusionGeneSummary for FAM149B1_USP6NL

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM149B1_USP6NL
Fusion gene ID: 12584
HgeneTgene
Gene symbol

FAM149B1

USP6NL

Gene ID

317662

9712

Gene namefamily with sequence similarity 149 member B1USP6 N-terminal like
SynonymsKIAA0974RNTRE|TRE2NL|USP6NL-IT1
Cytomap

10q22.2

10p14

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM149B1USP6 N-terminal-like proteinrelated to the N-terminus of tre
Modification date2018051920180523
UniProtAcc

Q96BN6

Q92738

Ensembl transtripts involved in fusion geneENST00000242505, ENST00000607940, 
ENST00000609104, ENST00000277575, 
ENST00000379237, ENST00000443016, 
ENST00000609853, 
Fusion gene scores* DoF score3 X 2 X 2=122 X 1 X 2=4
# samples 32
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: FAM149B1 [Title/Abstract] AND USP6NL [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
TgeneUSP6NL

GO:0043547

positive regulation of GTPase activity

17562788


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
TCGALDBRCATCGA-AR-A254-01AFAM149B1chr10

74968544

+USP6NLchr10

11569566

-
* 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
Frame-shiftENST00000242505ENST00000609104FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
Frame-shiftENST00000242505ENST00000277575FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
Frame-shiftENST00000242505ENST00000379237FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
5CDS-intronENST00000242505ENST00000443016FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
5CDS-intronENST00000242505ENST00000609853FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
intron-3CDSENST00000607940ENST00000609104FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
intron-3CDSENST00000607940ENST00000277575FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
intron-3CDSENST00000607940ENST00000379237FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
intron-intronENST00000607940ENST00000443016FAM149B1chr10

74968544

+USP6NLchr10

11569566

-
intron-intronENST00000607940ENST00000609853FAM149B1chr10

74968544

+USP6NLchr10

11569566

-

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FusionProtFeatures for FAM149B1_USP6NL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM149B1

Q96BN6

USP6NL

Q92738

Acts as a GTPase-activating protein for RAB5A and RAB43.Involved in receptor trafficking. In complex with EPS8 inhibitsinternalization of EGFR. Involved in retrograde transport from theendocytic pathway to the Golgi apparatus. Involved in thetransport of Shiga toxin from early and recycling endosomes to thetrans-Golgi network. Required for structural integrity of theGolgi complex. {ECO:0000269|PubMed:11099046,ECO:0000269|PubMed:17562788, ECO:0000269|PubMed:17684057}.

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 FAM149B1_USP6NL


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 FAM149B1_USP6NL


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
FAM149B1TBC1D32, CFAP20USP6NLACTN4, GRB2, APP, WWOX, SHMT2, NXF1, TMEM17, CCNA2, COMT, ANAPC15, UBE2S, CDH1


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 FAM149B1_USP6NL


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 FAM149B1_USP6NL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneUSP6NLC0025202melanoma1CTD_human