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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: 26908

FusionGeneSummary for PHF13_ESPN

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF13_ESPN
Fusion gene ID: 26908
HgeneTgene
Gene symbol

PHF13

ESPN

Gene ID

148479

83715

Gene namePHD finger protein 13espin
SynonymsPHF5|SPOC1DFNB36|LP2654
Cytomap

1p36.31

1p36.31

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 13PHD zinc finger protein PHF5survival time-associated PHD finger protein in ovarian cancer 1survival time-associated PHD protein in ovarian cancerespinautosomal recessive deafness type 36 proteinectoplasmic specialization protein
Modification date2018052320180523
UniProtAcc

Q86YI8

B1AK53

Ensembl transtripts involved in fusion geneENST00000377648, ENST00000495385, 
ENST00000377828, ENST00000461727, 
ENST00000475228, ENST00000416731, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 2=12
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHF13 [Title/Abstract] AND ESPN [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
TCGALDGBMTCGA-02-2486-01APHF13chr1

6674165

+ESPNchr1

6488286

+
* 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
In-frameENST00000377648ENST00000377828PHF13chr1

6674165

+ESPNchr1

6488286

+
5CDS-intronENST00000377648ENST00000461727PHF13chr1

6674165

+ESPNchr1

6488286

+
5CDS-intronENST00000377648ENST00000475228PHF13chr1

6674165

+ESPNchr1

6488286

+
5CDS-intronENST00000377648ENST00000416731PHF13chr1

6674165

+ESPNchr1

6488286

+
3UTR-3CDSENST00000495385ENST00000377828PHF13chr1

6674165

+ESPNchr1

6488286

+
3UTR-intronENST00000495385ENST00000461727PHF13chr1

6674165

+ESPNchr1

6488286

+
3UTR-intronENST00000495385ENST00000475228PHF13chr1

6674165

+ESPNchr1

6488286

+
3UTR-intronENST00000495385ENST00000416731PHF13chr1

6674165

+ESPNchr1

6488286

+

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FusionProtFeatures for PHF13_ESPN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF13

Q86YI8

ESPN

B1AK53

Modulates chromatin structure. Required for normalchromosome condensation during the early stages of mitosis.Required for normal chromosome separation during mitosis.{ECO:0000269|PubMed:19638409}. Multifunctional actin-bundling protein. Plays a majorrole in regulating the organization, dimension, dynamics andsignaling capacities of the actin filament-rich microvilli in themechanosensory and chemosensory cells. Required for the assemblyand stabilization of the stereociliary parallel actin bundles.Plays a crucial role in the formation and maintenance of inner earhair cell stereocilia. Involved in the elongation of actin instereocilia. In extrastriolar hair cells, required for targetingMYO3B to stereocilia tips, and for regulation of stereociliadiameter and staircase formation. {ECO:0000250|UniProtKB:Q9ET47}.

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
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013756_83098855Coiled coilOntology_term=ECO:0000255
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07756_8300289Coiled coilOntology_term=ECO:0000255
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08756_830-73289Coiled coilOntology_term=ECO:0000255
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013428_73098855Compositional biasNote=Pro-rich
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013768_82598855Compositional biasNote=Glu-rich
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07428_7300289Compositional biasNote=Pro-rich
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07768_8250289Compositional biasNote=Glu-rich
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08428_730-73289Compositional biasNote=Pro-rich
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08768_825-73289Compositional biasNote=Glu-rich
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013651_66898855DomainWH2
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07651_6680289DomainWH2
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08651_668-73289DomainWH2
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013103_13398855RepeatNote=ANK 4
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013137_16798855RepeatNote=ANK 5
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013171_20198855RepeatNote=ANK 6
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013205_23598855RepeatNote=ANK 7
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013239_26898855RepeatNote=ANK 8
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+013271_30098855RepeatNote=ANK 9
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07103_1330289RepeatNote=ANK 4
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07137_1670289RepeatNote=ANK 5
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07171_2010289RepeatNote=ANK 6
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+071_310289RepeatNote=ANK 1
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07205_2350289RepeatNote=ANK 7
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07239_2680289RepeatNote=ANK 8
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+07271_3000289RepeatNote=ANK 9
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+0735_640289RepeatNote=ANK 2
TgeneESPNchr1:6674165chr1:6488286ENST00000416731+0769_990289RepeatNote=ANK 3
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08103_133-73289RepeatNote=ANK 4
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08137_167-73289RepeatNote=ANK 5
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08171_201-73289RepeatNote=ANK 6
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+081_31-73289RepeatNote=ANK 1
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08205_235-73289RepeatNote=ANK 7
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08239_268-73289RepeatNote=ANK 8
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+08271_300-73289RepeatNote=ANK 9
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+0835_64-73289RepeatNote=ANK 2
TgeneESPNchr1:6674165chr1:6488286ENST00000461727+0869_99-73289RepeatNote=ANK 3

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePHF13chr1:6674165chr1:6488286ENST00000377648+14110_12713301MotifNuclear localization signal
HgenePHF13chr1:6674165chr1:6488286ENST00000377648+14232_28013301Zinc fingerNote=PHD-type
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+0131_3198855RepeatNote=ANK 1
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+01335_6498855RepeatNote=ANK 2
TgeneESPNchr1:6674165chr1:6488286ENST00000377828+01369_9998855RepeatNote=ANK 3


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FusionGeneSequence for PHF13_ESPN


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_PHF13_ENST00000377648_chr1_6674165_+_ESPN_ENST00000377828_chr1_6488286_+_770aa
MDSDSCAAAFHPEDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGALPIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATP
LYLACQEGHLEVTQYLVQECGADPHARAHDGMTPLHAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGE
ISADLWGGTPLHDAAENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQPDSGMS
SPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGLPRGTIGKPTPPPPPPSFPPPPPPPG
TQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELSSCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARP
GMAHSEEVRARQPARAGCPRLGPAARGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAG
PGCGQRRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALSPVRSPTPPAAGFQPL
LNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEEEQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQK


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PHF13_ENST00000377648_chr1_6674165_+_ESPN_ENST00000377828_chr1_6488286_+_2310nt
ATGGACTCTGACTCTTGCGCCGCCGCCTTCCACCCGGAGGACAAAGACAATTCTGGTGCCACAGTCTTGCATCTGGCTGCCCGCTTCGGC
CACCCCGAGGTGGTGAACTGGCTCTTGCATCATGGCGGTGGGGACCCCACCGCGGCCACAGACATGGGCGCCCTGCCTATCCACTACGCT
GCCGCCAAAGGAGACTTCCCCTCCCTGAGGCTTCTCGTCGAGCACTACCCTGAGGGAGTGAATGCCCAAACCAAGAACGGTGCCACGCCC
CTGTACCTGGCGTGCCAGGAGGGCCACCTGGAGGTGACCCAGTACCTGGTGCAGGAATGCGGCGCAGACCCGCACGCGCGCGCCCACGAC
GGCATGACCCCGCTGCACGCCGCGGCGCAGATGGGCCACAGCCCAGTCATCGTGTGGTTGGTGAGCTGCACCGACGTGAGCCTGTCCGAG
CAGGACAAAGACGGCGCCACCGCCATGCACTTCGCGGCGAGCCGCGGCCACACCAAGGTGCTCAGCTGGCTGCTGCTGCACGGCGGGGAG
ATCTCGGCTGACCTGTGGGGCGGGACCCCGCTGCACGACGCCGCCGAGAACGGGGAGCTAGAGTGCTGCCAGATCCTGGTAGTGAACGGC
GCGGAGCTGGACGTCCGCGACCGCGACGGGTACACGGCCGCCGACCTGTCGGACTTCAACGGCCACAGCCACTGCACCCGCTACCTGCGC
ACGGTGGAGAACCTGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAAGCAGCCGGATTCAGGCATGTCC
TCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTCCAACTACGACTCCTGCTCCTCC
AGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGGCTTTCCAGCGCTAGAGCTGCAGACATACAGAGCTACATGGACATGCTGAAC
CCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGC
ACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGACATCTACATGCAGACCAAGAAC
AAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGCTGAGCTCCTGTGACGGCCACGACGGGCTGCGGAGGCAGGACTCCAGCCGC
AAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGGCGAGACGCTGGCCGCACGCCCG
GGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCCTGCCGCCCGCGGCTCACTCGAA
GGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGACCCCAAGGCGTCCAGGGAGCTG
CCACCGCCGCCCCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCCTCTGCCCCTCGAGAGCGCTGGC
CCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGCACCAAGTCTTTCAACATGATGTCCCCGACGGGCGACAACTCGGAGCTA
CTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGCATCGGGCAGCCGGCC
TTCCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCGGGGTTTCAGCCGCTG
CTCAATGGAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATCCCCACGCACGATGAG
CAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAGGAGCAGAGGCGGAAG
GAGGAGGAGGAGGAGGCCCGGCTGGCCAGCATGCCCGCCTGGAGGCGGGACCTCCTGCGGAAGAAGCTGGAAGAAGAGAGGGAGCAGAAG
CGGAAAGAGGAGGAGCGACAGAAGCAGGAGGAGCTGCGGCGGGAGAAGGAACAGTCAGAGAAGCTGCGGACGCTGGGCTACGATGAGAGC


* Fusion transcript sequences (Full-length transcript).
>In-frame_PHF13_ENST00000377648_chr1_6674165_+_ESPN_ENST00000377828_chr1_6488286_+_3490nt
AGTCGCCACCCAGACTACATTTCCCGACAGGCCTCCCGGCTCTCCCGCCCTCCCTCCCGAGACACGAGCCGAACTGGGCGTCAGGTCGGG
GAGCCGGTCGGGTTCCCGCTCACCGCCGCCGCCGCCGCCCCCTGCAGCCACTCTCCCGCCTCTACCGCCGCGGGAGCTGCATCGTCCACT
CCGGTCGGCGGTGGAACCGCCAGTCCGGGGTCACAGAGCTTGAGAAGCGACGCGCTGAGCCCCCCATCACCTCCAGCCCGGGCGACCCCT
CCCGGGTCCGCCCTCGCCCTGCGCAGCCGCCCGAGCCCCCAGCCCCGGGCGGCCCCGCTCCAGCATCCCAGCTCCTGCACTCTCGCAGCC
GCCGCCGCCCCCCGCCCGGAACATGGACTCTGACTCTTGCGCCGCCGCCTTCCACCCGGAGGACAAAGACAATTCTGGTGCCACAGTCTT
GCATCTGGCTGCCCGCTTCGGCCACCCCGAGGTGGTGAACTGGCTCTTGCATCATGGCGGTGGGGACCCCACCGCGGCCACAGACATGGG
CGCCCTGCCTATCCACTACGCTGCCGCCAAAGGAGACTTCCCCTCCCTGAGGCTTCTCGTCGAGCACTACCCTGAGGGAGTGAATGCCCA
AACCAAGAACGGTGCCACGCCCCTGTACCTGGCGTGCCAGGAGGGCCACCTGGAGGTGACCCAGTACCTGGTGCAGGAATGCGGCGCAGA
CCCGCACGCGCGCGCCCACGACGGCATGACCCCGCTGCACGCCGCGGCGCAGATGGGCCACAGCCCAGTCATCGTGTGGTTGGTGAGCTG
CACCGACGTGAGCCTGTCCGAGCAGGACAAAGACGGCGCCACCGCCATGCACTTCGCGGCGAGCCGCGGCCACACCAAGGTGCTCAGCTG
GCTGCTGCTGCACGGCGGGGAGATCTCGGCTGACCTGTGGGGCGGGACCCCGCTGCACGACGCCGCCGAGAACGGGGAGCTAGAGTGCTG
CCAGATCCTGGTAGTGAACGGCGCGGAGCTGGACGTCCGCGACCGCGACGGGTACACGGCCGCCGACCTGTCGGACTTCAACGGCCACAG
CCACTGCACCCGCTACCTGCGCACGGTGGAGAACCTGAGCGTGGAGCACCGCGTGCTTTCCCGGGATCCATCCGCAGAGCTGGAGGCTAA
GCAGCCGGATTCAGGCATGTCCTCACCCAATACCACGGTGTCGGTCCAGCCGCTGAACTTTGACCTCAGCTCGCCTACCAGCACCCTCTC
CAACTACGACTCCTGCTCCTCCAGCCACTCCAGCATCAAGGGCCAGCACCCTCCATGTGGGCTTTCCAGCGCTAGAGCTGCAGACATACA
GAGCTACATGGACATGCTGAACCCGGAGCTGGGCCTGCCTCGGGGCACGATTGGGAAGCCCACACCCCCACCACCCCCACCCAGCTTCCC
CCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCCCACCCCCACCTGGCTACCCAGCTCCCAAGCCTCCTGTAGGACCACAGGCAGCTGA
CATCTACATGCAGACCAAGAACAAACTCCGCCACGTGGAGACAGAGGCCCTCAAGAAGGAGCTGAGCTCCTGTGACGGCCACGACGGGCT
GCGGAGGCAGGACTCCAGCCGCAAGCCCCGCGCCTTCAGCAAGCAGCCCAGCACGGGGGACTACTACCGGCAGCTGGGCCGCTGCCCCGG
CGAGACGCTGGCCGCACGCCCGGGCATGGCGCACAGCGAGGAGGTGCGTGCCCGCCAGCCCGCGCGCGCCGGCTGCCCGCGCCTCGGCCC
TGCCGCCCGCGGCTCACTCGAAGGCCCCTCCGCTCCCCCGCAGGCGGCGCTGCTTCCTGGGAACCATGTTCCTAACGGCTGCGCCGCGGA
CCCCAAGGCGTCCAGGGAGCTGCCACCGCCGCCCCCACCGCCGCCGCCGCCCCTGCCGGAGGCCGCGAGTTCGCCACCGCCGGCCCCGCC
TCTGCCCCTCGAGAGCGCTGGCCCTGGCTGCGGGCAGCGCCGCTCCTCCTCGTCCACCGGCAGCACCAAGTCTTTCAACATGATGTCCCC
GACGGGCGACAACTCGGAGCTACTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTT
CTCAGGCATCGGGCAGCCGGCCTTCCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCC
AGCTGCGGGGTTTCAGCCGCTGCTCAATGGAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGC
TCTCATCCCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGA
GGAGGAGGAGCAGAGGCGGAAGGAGGAGGAGGAGGAGGCCCGGCTGGCCAGCATGCCCGCCTGGAGGCGGGACCTCCTGCGGAAGAAGCT
GGAAGAAGAGAGGGAGCAGAAGCGGAAAGAGGAGGAGCGACAGAAGCAGGAGGAGCTGCGGCGGGAGAAGGAACAGTCAGAGAAGCTGCG
GACGCTGGGCTACGATGAGAGCAAGCTGGCGCCCTGGCAGCGACAGGTCATCCTGAAGAAGGGGGACATCGCTAAGTACTAGAGGCCGCA
GACTCCTGTCCGCAGCCTCGCAGCTCCGTGGGGCCCTCCGCCCCAGCCCCAGCCAGCCAGGCCCTGGTGGAAAGGCTGGGAGCCGCACAG
CCCTCCCCTCCTGCGCTGGAAACCCTCCCTGACCCCCACCCTGGCCCCCCGTATCCCCAGCCCTTGGCAACACTGGAGTGCACACGCCGC
CACGGTTGCCCAGAAAAAGTGCCCAAGCTGCTGACGCAAACAACAACAAATGCTGCTTATTTGCATGCCGACTTACATATATTTGCATGT
TCGTTGACTATCAAAGAGTGCAGAGCTCTCCCCAGCCCCGTGGGTGGTGACTTTGTTTTCCTGCGGGGCTCAGCCCCCTCCAGGATGCAG
CCCCCTCCCCCGCACCCCGGAACCGGCGTCGCTGGCGCATCCTGGGTGGAGGCAGGCCCCGAGCTCGGGGAAGGGGTTTTCCCTTCCTCT
CTGACCCAGATCTGCGCGCGGCCTAGCCCGGGCCTCATTTCTTATCCCCGCCAAGGGTTTCCTCTCAGTCATTTGTTTACCAGAAACATG
AAAACTGCCTGTCTGGCCGGGCCGCACTTGTGGCCCCCGGGACCCCACCTCTGGCCCCACCTCCCTCAAGTCTGCGCCCCGTCCCCAGCC
AGACCCACTCGCTGCCGGGACCCTTTCACTGCCCCGGTGGAGTGAATAGAGGATGAGGGGCCCTGACCCTGTGTCTCCAACTGCTGCACC


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FusionGenePPI for PHF13_ESPN


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
PHF13CPTP, TBX20, DNASE1L2, PPIEESPN


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
HgenePHF13chr1:6674165chr1:6488286ENST00000377648+14241_24813301trimethylated histone H3 (H3K4)


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


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RelatedDrugs for PHF13_ESPN


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 PHF13_ESPN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneESPNC0011053Deafness2CTD_human
TgeneESPNC0042594Vestibular Diseases1CTD_human
TgeneESPNC1837007DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT1CTD_human;UNIPROT