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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: 29629

FusionGeneSummary for PTRH2_ANKFN1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTRH2_ANKFN1
Fusion gene ID: 29629
HgeneTgene
Gene symbol

PTRH2

ANKFN1

Gene ID

51651

162282

Gene namepeptidyl-tRNA hydrolase 2ankyrin repeat and fibronectin type III domain containing 1
SynonymsBIT1|CFAP37|CGI-147|IMNEPD|PTH|PTH 2|PTH2-
Cytomap

17q23.1

17q22

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-tRNA hydrolase 2, mitochondrialbcl-2 inhibitor of transcription 1cilia and flagella associated protein 37ankyrin repeat and fibronectin type-III domain-containing protein 1
Modification date2018052320180329
UniProtAcc

Q9Y3E5

Q8N957

Ensembl transtripts involved in fusion geneENST00000393038, ENST00000537860, 
ENST00000409433, ENST00000470557, 
ENST00000579915, 
ENST00000318698, 
ENST00000566473, ENST00000574292, 
Fusion gene scores* DoF score7 X 3 X 4=8413 X 10 X 4=520
# samples 713
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/520*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTRH2 [Title/Abstract] AND ANKFN1 [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
TCGALDSARCTCGA-QC-A6FX-01APTRH2chr17

57784732

-ANKFN1chr17

54305278

+
* 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-3CDSENST00000393038ENST00000318698PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000393038ENST00000566473PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3UTRENST00000393038ENST00000574292PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000537860ENST00000318698PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000537860ENST00000566473PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3UTRENST00000537860ENST00000574292PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000409433ENST00000318698PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000409433ENST00000566473PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3UTRENST00000409433ENST00000574292PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
intron-3CDSENST00000470557ENST00000318698PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
intron-3CDSENST00000470557ENST00000566473PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
intron-3UTRENST00000470557ENST00000574292PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000579915ENST00000318698PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3CDSENST00000579915ENST00000566473PTRH2chr17

57784732

-ANKFN1chr17

54305278

+
5UTR-3UTRENST00000579915ENST00000574292PTRH2chr17

57784732

-ANKFN1chr17

54305278

+

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FusionProtFeatures for PTRH2_ANKFN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTRH2

Q9Y3E5

ANKFN1

Q8N957

The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.{ECO:0000250}. Promotes caspase-independent apoptosis by regulating thefunction of two transcriptional regulators, AES and TLE1.{ECO:0000269|PubMed:15006356}.

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 PTRH2_ANKFN1


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 PTRH2_ANKFN1


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
PTRH2AES, ATP6V0A1, ATP6V0A2, ATP6V1D, STT3B, FLOT1, RPS2, LAMTOR3, RPS15, JUP, CD55, ABCC2, FLOT2, GADD45GIP1, PTK2, PHYHIP, ARHGEF10, DLK1, FAM63B, TNFRSF10B, CLEC5A, CLTC, COQ9, CHCHD2, DUSP22, DUSP6, DUSP8, DUSP9, EYA3, TLR5, CHRM3, CD7, SLC6A15, HTR2C, SIGLEC10, SLC18A1, HTR3A, SCGB2A2, TEX29, GPR21, YIPF3, HMOX2, SLC39A12, MED21, GRPR, PTPN1ANKFN1


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 PTRH2_ANKFN1


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 PTRH2_ANKFN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTRH2C0033578Prostatic Neoplasms1CTD_human
HgenePTRH2C4015728NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET1ORPHANET;UNIPROT