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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: 12656

FusionGeneSummary for FAM172A_PRR16

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM172A_PRR16
Fusion gene ID: 12656
HgeneTgene
Gene symbol

FAM172A

PRR16

Gene ID

83989

51334

Gene namefamily with sequence similarity 172 member Aproline rich 16
SynonymsC5orf21DSC54|LARGEN
Cytomap

5q15

5q23.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM172Aprotein Largenmesenchymal stem cell protein DSC54proline-rich protein 16
Modification date2018052320180519
UniProtAcc

Q8WUF8

Q569H4

Ensembl transtripts involved in fusion geneENST00000395965, ENST00000505869, 
ENST00000509739, ENST00000509163, 
ENST00000504768, 
ENST00000407149, 
ENST00000379551, ENST00000505123, 
ENST00000446965, 
Fusion gene scores* DoF score8 X 6 X 5=2404 X 2 X 4=32
# samples 84
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAM172A [Title/Abstract] AND PRR16 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgenePRR16

GO:0045727

positive regulation of translation

24656129

TgenePRR16

GO:0045793

positive regulation of cell size

24656129


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
TCGARVCOADTCGA-CM-4747-01AFAM172Achr5

93294482

-PRR16chr5

120021649

+
* 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-shiftENST00000395965ENST00000407149FAM172Achr5

93294482

-PRR16chr5

120021649

+
Frame-shiftENST00000395965ENST00000379551FAM172Achr5

93294482

-PRR16chr5

120021649

+
5CDS-5UTRENST00000395965ENST00000505123FAM172Achr5

93294482

-PRR16chr5

120021649

+
5CDS-5UTRENST00000395965ENST00000446965FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-3CDSENST00000505869ENST00000407149FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-3CDSENST00000505869ENST00000379551FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-5UTRENST00000505869ENST00000505123FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-5UTRENST00000505869ENST00000446965FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-3CDSENST00000509739ENST00000407149FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-3CDSENST00000509739ENST00000379551FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-5UTRENST00000509739ENST00000505123FAM172Achr5

93294482

-PRR16chr5

120021649

+
intron-5UTRENST00000509739ENST00000446965FAM172Achr5

93294482

-PRR16chr5

120021649

+
In-frameENST00000509163ENST00000407149FAM172Achr5

93294482

-PRR16chr5

120021649

+
In-frameENST00000509163ENST00000379551FAM172Achr5

93294482

-PRR16chr5

120021649

+
5CDS-5UTRENST00000509163ENST00000505123FAM172Achr5

93294482

-PRR16chr5

120021649

+
5CDS-5UTRENST00000509163ENST00000446965FAM172Achr5

93294482

-PRR16chr5

120021649

+
5UTR-3CDSENST00000504768ENST00000407149FAM172Achr5

93294482

-PRR16chr5

120021649

+
5UTR-3CDSENST00000504768ENST00000379551FAM172Achr5

93294482

-PRR16chr5

120021649

+
5UTR-5UTRENST00000504768ENST00000505123FAM172Achr5

93294482

-PRR16chr5

120021649

+
5UTR-5UTRENST00000504768ENST00000446965FAM172Achr5

93294482

-PRR16chr5

120021649

+

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FusionProtFeatures for FAM172A_PRR16


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM172A

Q8WUF8

PRR16

Q569H4

Regulator of cell size that promotes cell size increaseindependently of mTOR and Hippo signaling pathways. Acts bystimulating the translation of specific mRNAs, including thoseencoding proteins affecting mitochondrial functions. Increasesmitochondrial mass and respiration. {ECO:0000269|PubMed:24656129}.

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 FAM172A_PRR16


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.
>In-frame_FAM172A_ENST00000509163_chr5_93294482_-_PRR16_ENST00000407149_chr5_120021649_+_395aa
MKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYREDLHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSF
IFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQIPFIKRAVAVVDQIDTLTSDLQLEDEMTDSSKTDTLNSSSSGTTAS
SLEKIKVQANAPLIKPPAHPSAILTVLRKPNPPPPPPRLTPVKCEDPKRVVPTANPVKTNGTLLRNGGLPGGPNKIPNGDICCIPNSNLD
KAPVQLLMHRPEKDRCPQAGPRERVRFNEKVQYHGYCPDCDTRYNIKNREVHLHSEPVHPPGKIPHQGPPLPPTPHLPPFPLENGGMGIS

>In-frame_FAM172A_ENST00000509163_chr5_93294482_-_PRR16_ENST00000379551_chr5_120021649_+_395aa
MKKDEPPLDFPDTLEGFEYAFNEKGQLRHIKTGEPFVFNYREDLHRWNQKRYEALGEIITKYVYELLEKDCNLKKVSIPVDATESEPKSF
IFMSEDALTNPQKLMVLIHGSGVVRAGQWARRLIINEDLDSGTQIPFIKRAVAVVDQIDTLTSDLQLEDEMTDSSKTDTLNSSSSGTTAS
SLEKIKVQANAPLIKPPAHPSAILTVLRKPNPPPPPPRLTPVKCEDPKRVVPTANPVKTNGTLLRNGGLPGGPNKIPNGDICCIPNSNLD
KAPVQLLMHRPEKDRCPQAGPRERVRFNEKVQYHGYCPDCDTRYNIKNREVHLHSEPVHPPGKIPHQGPPLPPTPHLPPFPLENGGMGIS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FAM172A_ENST00000509163_chr5_93294482_-_PRR16_ENST00000407149_chr5_120021649_+_1185nt
ATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGTTAAGACACATA
AAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAGAGATCATCACG
AAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAACCAAAGAGTTTT
ATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAGGGCAGTGGGCT
AGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTGTGGTTGACCAGATTGACACC
CTGACCTCTGACCTACAGCTGGAGGATGAGATGACTGACAGCTCCAAAACGGACACGCTGAATAGTAGCTCAAGTGGCACAACAGCCTCC
AGCCTAGAGAAGATCAAAGTGCAGGCTAATGCACCGCTTATTAAACCCCCAGCACACCCGTCTGCTATCCTCACGGTCCTGAGAAAGCCA
AACCCTCCACCACCTCCTCCAAGGTTGACACCTGTGAAGTGTGAAGACCCCAAAAGGGTGGTTCCAACTGCCAATCCTGTAAAAACCAAT
GGCACCCTTCTACGAAATGGAGGCTTACCAGGTGGACCTAACAAAATTCCAAATGGAGATATCTGCTGCATACCCAACAGTAACTTGGAC
AAGGCTCCAGTCCAGCTTCTGATGCATAGACCTGAAAAAGACAGATGTCCCCAGGCAGGGCCTCGAGAACGAGTTCGGTTTAATGAAAAA
GTACAGTACCATGGCTATTGTCCTGACTGTGATACCCGGTATAACATAAAAAACAGGGAGGTCCACTTACACAGTGAACCTGTCCACCCA
CCGGGAAAGATTCCTCACCAAGGCCCTCCCCTCCCTCCTACACCCCATCTCCCTCCTTTCCCACTAGAAAATGGGGGAATGGGAATAAGC
CACAGTAACAGCTTCCCCCCTATCAGACCTGCAACTGTGCCTCCTCCCACTGCACCAAAACCACAGAAGACGATCTTGAGGAAGTCAACC

>In-frame_FAM172A_ENST00000509163_chr5_93294482_-_PRR16_ENST00000379551_chr5_120021649_+_1185nt
ATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAGGGACAGTTAAGACACATA
AAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCTCTAGGAGAGATCATCACG
AAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAGAGTGAACCAAAGAGTTTT
ATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTCAGGGCAGGGCAGTGGGCT
AGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTGTGGTTGACCAGATTGACACC
CTGACCTCTGACCTACAGCTGGAGGATGAGATGACTGACAGCTCCAAAACGGACACGCTGAATAGTAGCTCAAGTGGCACAACAGCCTCC
AGCCTAGAGAAGATCAAAGTGCAGGCTAATGCACCGCTTATTAAACCCCCAGCACACCCGTCTGCTATCCTCACGGTCCTGAGAAAGCCA
AACCCTCCACCACCTCCTCCAAGGTTGACACCTGTGAAGTGTGAAGACCCCAAAAGGGTGGTTCCAACTGCCAATCCTGTAAAAACCAAT
GGCACCCTTCTACGAAATGGAGGCTTACCAGGTGGACCTAACAAAATTCCAAATGGAGATATCTGCTGCATACCCAACAGTAACTTGGAC
AAGGCTCCAGTCCAGCTTCTGATGCATAGACCTGAAAAAGACAGATGTCCCCAGGCAGGGCCTCGAGAACGAGTTCGGTTTAATGAAAAA
GTACAGTACCATGGCTATTGTCCTGACTGTGATACCCGGTATAACATAAAAAACAGGGAGGTCCACTTACACAGTGAACCTGTCCACCCA
CCGGGAAAGATTCCTCACCAAGGCCCTCCCCTCCCTCCTACACCCCATCTCCCTCCTTTCCCACTAGAAAATGGGGGAATGGGAATAAGC
CACAGTAACAGCTTCCCCCCTATCAGACCTGCAACTGTGCCTCCTCCCACTGCACCAAAACCACAGAAGACGATCTTGAGGAAGTCAACC


* Fusion transcript sequences (Full-length transcript).
>In-frame_FAM172A_ENST00000509163_chr5_93294482_-_PRR16_ENST00000407149_chr5_120021649_+_2006nt
GTATCAATCTCCTGAAGACCCCGGAAGTGCAACTCGAACTTGGTCGGGGCGCGGATCCCGAGAGGGAAAGTCATAACAACCGCACGAGGG
AGTTCGACTGGCGAACTGGAAGGCCACGCCTCCTCCCGCCTGCCCCCTCAGCCCTGTGGCTGGGGGCAGAGCTCAGATTTATTATCTAGG
ATAGATTTGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAG
GGACAGTTAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCT
CTAGGAGAGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAG
AGTGAACCAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTC
AGGGCAGGGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTGTG
GTTGACCAGATTGACACCCTGACCTCTGACCTACAGCTGGAGGATGAGATGACTGACAGCTCCAAAACGGACACGCTGAATAGTAGCTCA
AGTGGCACAACAGCCTCCAGCCTAGAGAAGATCAAAGTGCAGGCTAATGCACCGCTTATTAAACCCCCAGCACACCCGTCTGCTATCCTC
ACGGTCCTGAGAAAGCCAAACCCTCCACCACCTCCTCCAAGGTTGACACCTGTGAAGTGTGAAGACCCCAAAAGGGTGGTTCCAACTGCC
AATCCTGTAAAAACCAATGGCACCCTTCTACGAAATGGAGGCTTACCAGGTGGACCTAACAAAATTCCAAATGGAGATATCTGCTGCATA
CCCAACAGTAACTTGGACAAGGCTCCAGTCCAGCTTCTGATGCATAGACCTGAAAAAGACAGATGTCCCCAGGCAGGGCCTCGAGAACGA
GTTCGGTTTAATGAAAAAGTACAGTACCATGGCTATTGTCCTGACTGTGATACCCGGTATAACATAAAAAACAGGGAGGTCCACTTACAC
AGTGAACCTGTCCACCCACCGGGAAAGATTCCTCACCAAGGCCCTCCCCTCCCTCCTACACCCCATCTCCCTCCTTTCCCACTAGAAAAT
GGGGGAATGGGAATAAGCCACAGTAACAGCTTCCCCCCTATCAGACCTGCAACTGTGCCTCCTCCCACTGCACCAAAACCACAGAAGACG
ATCTTGAGGAAGTCAACCACTACAACCGTGTGATGTATGCCATTAAAAAAATTGTTTTTTTAATTTTCTATATTATAAACATAAAATAAG
TAATGAGCACTTTCTACTCAAGCAATAAAAAGCCCAAATATATTAATCCTGCATTCAGCAAAGTGGCATAAAAATCACCTGGTAAGTATG
CAGCACATTGCTTATATCCTGGGTATGCATTATTTTAAATGTTGTATCATTAAAAACCTCAGAATGATGAAAAATATGAATGATGCATTG
TTTTTGCAATTGACCTATGACAAACTGTGAACCTGCAGATTTCACCTATTTTGATTTACTATAAGAGCTGGGATTTGATTCATTTTATTT
ATGCCTAAGTCATCTATGCATTAACATGTCATATTCTTAACTTTGATCTAATGCTTTTTACTAGGAAATTTTAATACTGAAGGACTATTT
TATTATTTTTTTCTAAAGATGTTTGTCACTAGTTTTTCATTATTAAATGCTGAGGCCAATACCAAGAAGTTTATTTTCTATATTATACAA
TTATGAATTACATGCTCAGCTATATATGTAATAAAATACTTTGGTCTGTGGAAATATTGTTAAATCAATAAACAATAGTAAATAATGACA

>In-frame_FAM172A_ENST00000509163_chr5_93294482_-_PRR16_ENST00000379551_chr5_120021649_+_2006nt
GTATCAATCTCCTGAAGACCCCGGAAGTGCAACTCGAACTTGGTCGGGGCGCGGATCCCGAGAGGGAAAGTCATAACAACCGCACGAGGG
AGTTCGACTGGCGAACTGGAAGGCCACGCCTCCTCCCGCCTGCCCCCTCAGCCCTGTGGCTGGGGGCAGAGCTCAGATTTATTATCTAGG
ATAGATTTGGATGAACTAATGAAAAAAGATGAACCGCCTCTTGATTTTCCTGATACCCTGGAAGGATTTGAATATGCTTTTAATGAAAAG
GGACAGTTAAGACACATAAAAACTGGGGAACCATTTGTTTTTAACTACCGGGAAGATTTACACAGATGGAACCAGAAAAGATACGAGGCT
CTAGGAGAGATCATCACGAAGTATGTATATGAGCTCCTGGAAAAGGATTGTAATTTGAAAAAAGTATCTATTCCAGTAGATGCCACTGAG
AGTGAACCAAAGAGTTTTATCTTTATGAGTGAGGATGCTTTGACAAATCCACAGAAACTGATGGTTTTAATTCATGGTAGTGGTGTTGTC
AGGGCAGGGCAGTGGGCTAGAAGACTTATTATAAATGAAGATCTGGACAGTGGCACACAGATACCGTTTATTAAAAGAGCTGTGGCTGTG
GTTGACCAGATTGACACCCTGACCTCTGACCTACAGCTGGAGGATGAGATGACTGACAGCTCCAAAACGGACACGCTGAATAGTAGCTCA
AGTGGCACAACAGCCTCCAGCCTAGAGAAGATCAAAGTGCAGGCTAATGCACCGCTTATTAAACCCCCAGCACACCCGTCTGCTATCCTC
ACGGTCCTGAGAAAGCCAAACCCTCCACCACCTCCTCCAAGGTTGACACCTGTGAAGTGTGAAGACCCCAAAAGGGTGGTTCCAACTGCC
AATCCTGTAAAAACCAATGGCACCCTTCTACGAAATGGAGGCTTACCAGGTGGACCTAACAAAATTCCAAATGGAGATATCTGCTGCATA
CCCAACAGTAACTTGGACAAGGCTCCAGTCCAGCTTCTGATGCATAGACCTGAAAAAGACAGATGTCCCCAGGCAGGGCCTCGAGAACGA
GTTCGGTTTAATGAAAAAGTACAGTACCATGGCTATTGTCCTGACTGTGATACCCGGTATAACATAAAAAACAGGGAGGTCCACTTACAC
AGTGAACCTGTCCACCCACCGGGAAAGATTCCTCACCAAGGCCCTCCCCTCCCTCCTACACCCCATCTCCCTCCTTTCCCACTAGAAAAT
GGGGGAATGGGAATAAGCCACAGTAACAGCTTCCCCCCTATCAGACCTGCAACTGTGCCTCCTCCCACTGCACCAAAACCACAGAAGACG
ATCTTGAGGAAGTCAACCACTACAACCGTGTGATGTATGCCATTAAAAAAATTGTTTTTTTAATTTTCTATATTATAAACATAAAATAAG
TAATGAGCACTTTCTACTCAAGCAATAAAAAGCCCAAATATATTAATCCTGCATTCAGCAAAGTGGCATAAAAATCACCTGGTAAGTATG
CAGCACATTGCTTATATCCTGGGTATGCATTATTTTAAATGTTGTATCATTAAAAACCTCAGAATGATGAAAAATATGAATGATGCATTG
TTTTTGCAATTGACCTATGACAAACTGTGAACCTGCAGATTTCACCTATTTTGATTTACTATAAGAGCTGGGATTTGATTCATTTTATTT
ATGCCTAAGTCATCTATGCATTAACATGTCATATTCTTAACTTTGATCTAATGCTTTTTACTAGGAAATTTTAATACTGAAGGACTATTT
TATTATTTTTTTCTAAAGATGTTTGTCACTAGTTTTTCATTATTAAATGCTGAGGCCAATACCAAGAAGTTTATTTTCTATATTATACAA
TTATGAATTACATGCTCAGCTATATATGTAATAAAATACTTTGGTCTGTGGAAATATTGTTAAATCAATAAACAATAGTAAATAATGACA


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FusionGenePPI for FAM172A_PRR16


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
FAM172AELAVL1, FGL1, SMU1, STYX, ZNF331, ATP5D, KIR3DL2, DEFB1PRR16NEDD4, NEDD4L, PPP1CA, APP, PPP1CC, ABI2, SMURF1


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 FAM172A_PRR16


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 FAM172A_PRR16


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