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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: 1868

FusionGeneSummary for ANKRD52_ASPHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD52_ASPHD1
Fusion gene ID: 1868
HgeneTgene
Gene symbol

ANKRD52

ASPHD1

Gene ID

283373

253982

Gene nameankyrin repeat domain 52aspartate beta-hydroxylase domain containing 1
SynonymsANKRD33-
Cytomap

12q13.3

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit CCVWG5837PP6-ARS-Cankyrin repeat domain 33ankyrin repeat domain-containing protein 52protein phosphatase 6 ankyrin repeat subunit Cserine/threonine-protein phosphatase 6 regulaaspartate beta-hydroxylase domain-containing protein 1
Modification date2018051920180403
UniProtAcc

Q8NB46

Q5U4P2

Ensembl transtripts involved in fusion geneENST00000548241, ENST00000267116, 
ENST00000483405, ENST00000308748, 
Fusion gene scores* DoF score9 X 8 X 4=2882 X 2 X 2=8
# samples 82
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ANKRD52 [Title/Abstract] AND ASPHD1 [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
TCGARVSTADTCGA-MX-A666-01AANKRD52chr12

56649568

-ASPHD1chr16

29917109

+
* 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
intron-3CDSENST00000548241ENST00000483405ANKRD52chr12

56649568

-ASPHD1chr16

29917109

+
intron-3CDSENST00000548241ENST00000308748ANKRD52chr12

56649568

-ASPHD1chr16

29917109

+
In-frameENST00000267116ENST00000483405ANKRD52chr12

56649568

-ASPHD1chr16

29917109

+
In-frameENST00000267116ENST00000308748ANKRD52chr12

56649568

-ASPHD1chr16

29917109

+

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FusionProtFeatures for ANKRD52_ASPHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKRD52

Q8NB46

ASPHD1

Q5U4P2

Putative regulatory subunit of protein phosphatase 6(PP6) that may be involved in the recognition of phosphoproteinsubstrates.

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 ANKRD52_ASPHD1


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_ANKRD52_ENST00000267116_chr12_56649568_-_ASPHD1_ENST00000483405_chr16_29917109_+_190aa
MGILSITDQPPLVQAIFSRDVEEVRSLLSQKENINVLDQERRTPLHAAAYVGDVPILQLLLMSGANVNAKDTLWLTPLHRAAASRNEKVL
GLLLAHSADVNARDKLWQTPLHVAAANRATKCAEALAPLLSSLNVADRSGRSALHHAVHSGHLEAPPKMGLEWSSSWTSGTPTWQGLSAR

>In-frame_ANKRD52_ENST00000267116_chr12_56649568_-_ASPHD1_ENST00000308748_chr16_29917109_+_190aa
MGILSITDQPPLVQAIFSRDVEEVRSLLSQKENINVLDQERRTPLHAAAYVGDVPILQLLLMSGANVNAKDTLWLTPLHRAAASRNEKVL
GLLLAHSADVNARDKLWQTPLHVAAANRATKCAEALAPLLSSLNVADRSGRSALHHAVHSGHLEAPPKMGLEWSSSWTSGTPTWQGLSAR


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ANKRD52_ENST00000267116_chr12_56649568_-_ASPHD1_ENST00000483405_chr16_29917109_+_572nt
ATGGGGATCCTCAGCATCACGGACCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAG
AAGGAGAACATCAATGTGCTGGACCAAGAGAGGCGAACTCCATTGCATGCTGCTGCCTACGTAGGCGATGTCCCCATCCTCCAGTTGCTA
CTGATGTCAGGTGCTAATGTCAATGCTAAGGACACACTGTGGCTGACCCCTCTTCATCGTGCTGCTGCCTCCCGAAACGAGAAGGTGCTG
GGGCTGCTGCTGGCACATTCAGCAGATGTGAATGCCCGGGACAAGCTGTGGCAGACACCACTGCATGTGGCTGCTGCCAACCGGGCCACC
AAGTGTGCTGAGGCTCTGGCACCCCTGTTGAGCAGCCTCAACGTGGCTGACAGGAGCGGGCGCAGTGCTCTGCACCATGCAGTGCATAGT
GGGCATCTTGAGGCTCCCCCGAAGATGGGCCTCGAGTGGTCTTCATCGTGGACCTCTGGCACCCCAACGTGGCAGGGGCTGAGCGCCAGG

>In-frame_ANKRD52_ENST00000267116_chr12_56649568_-_ASPHD1_ENST00000308748_chr16_29917109_+_572nt
ATGGGGATCCTCAGCATCACGGACCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAG
AAGGAGAACATCAATGTGCTGGACCAAGAGAGGCGAACTCCATTGCATGCTGCTGCCTACGTAGGCGATGTCCCCATCCTCCAGTTGCTA
CTGATGTCAGGTGCTAATGTCAATGCTAAGGACACACTGTGGCTGACCCCTCTTCATCGTGCTGCTGCCTCCCGAAACGAGAAGGTGCTG
GGGCTGCTGCTGGCACATTCAGCAGATGTGAATGCCCGGGACAAGCTGTGGCAGACACCACTGCATGTGGCTGCTGCCAACCGGGCCACC
AAGTGTGCTGAGGCTCTGGCACCCCTGTTGAGCAGCCTCAACGTGGCTGACAGGAGCGGGCGCAGTGCTCTGCACCATGCAGTGCATAGT
GGGCATCTTGAGGCTCCCCCGAAGATGGGCCTCGAGTGGTCTTCATCGTGGACCTCTGGCACCCCAACGTGGCAGGGGCTGAGCGCCAGG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ANKRD52_ENST00000267116_chr12_56649568_-_ASPHD1_ENST00000483405_chr16_29917109_+_853nt
AGGCGGGGCCGCGCTCTCCCTGCAGCCGCCACCGCAGCCGCCGCCTGGGCCGCTCCGTGTCCCCGGTGGAGCCGCCGCCGCCGCCGCCGG
GAGCTCGATGCGGACGGAGCCCGGGCCGAGCCATGGGGATCCTCAGCATCACGGACCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAG
ATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGACCAAGAGAGGCGAACTCCATTGCATGCTGCTGCCT
ACGTAGGCGATGTCCCCATCCTCCAGTTGCTACTGATGTCAGGTGCTAATGTCAATGCTAAGGACACACTGTGGCTGACCCCTCTTCATC
GTGCTGCTGCCTCCCGAAACGAGAAGGTGCTGGGGCTGCTGCTGGCACATTCAGCAGATGTGAATGCCCGGGACAAGCTGTGGCAGACAC
CACTGCATGTGGCTGCTGCCAACCGGGCCACCAAGTGTGCTGAGGCTCTGGCACCCCTGTTGAGCAGCCTCAACGTGGCTGACAGGAGCG
GGCGCAGTGCTCTGCACCATGCAGTGCATAGTGGGCATCTTGAGGCTCCCCCGAAGATGGGCCTCGAGTGGTCTTCATCGTGGACCTCTG
GCACCCCAACGTGGCAGGGGCTGAGCGCCAGGCCCTCGACTTTGTCTTCGCCCCAGACCCTTGAAGGAAGGTGCTCCCTTCACACACCCA
GGCTGGAGAGACACTGCGCTCAGGGACGGCTTGATGGTAGCCAGGACCTCCTCTCTACTGCGGGGGTGGGCGGGGGCGGAGGATGGGAAC

>In-frame_ANKRD52_ENST00000267116_chr12_56649568_-_ASPHD1_ENST00000308748_chr16_29917109_+_853nt
AGGCGGGGCCGCGCTCTCCCTGCAGCCGCCACCGCAGCCGCCGCCTGGGCCGCTCCGTGTCCCCGGTGGAGCCGCCGCCGCCGCCGCCGG
GAGCTCGATGCGGACGGAGCCCGGGCCGAGCCATGGGGATCCTCAGCATCACGGACCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAG
ATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGACCAAGAGAGGCGAACTCCATTGCATGCTGCTGCCT
ACGTAGGCGATGTCCCCATCCTCCAGTTGCTACTGATGTCAGGTGCTAATGTCAATGCTAAGGACACACTGTGGCTGACCCCTCTTCATC
GTGCTGCTGCCTCCCGAAACGAGAAGGTGCTGGGGCTGCTGCTGGCACATTCAGCAGATGTGAATGCCCGGGACAAGCTGTGGCAGACAC
CACTGCATGTGGCTGCTGCCAACCGGGCCACCAAGTGTGCTGAGGCTCTGGCACCCCTGTTGAGCAGCCTCAACGTGGCTGACAGGAGCG
GGCGCAGTGCTCTGCACCATGCAGTGCATAGTGGGCATCTTGAGGCTCCCCCGAAGATGGGCCTCGAGTGGTCTTCATCGTGGACCTCTG
GCACCCCAACGTGGCAGGGGCTGAGCGCCAGGCCCTCGACTTTGTCTTCGCCCCAGACCCTTGAAGGAAGGTGCTCCCTTCACACACCCA
GGCTGGAGAGACACTGCGCTCAGGGACGGCTTGATGGTAGCCAGGACCTCCTCTCTACTGCGGGGGTGGGCGGGGGCGGAGGATGGGAAC


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FusionGenePPI for ANKRD52_ASPHD1


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
ANKRD52USP36, USP49, PLK1, PPP6C, SIRT7, MOB1A, MOB1B, PPP6R1, PPP6R2, PPP6R3, MOV10, NXF1, AP2M1, DCLRE1C, CEP44, XPO1, FOXK1, FOXK2, HIF1AN, ZNF785, USP10, TRMT2A, ZNF263, ZNF414, CPNE5, ZNF669, FAM19A3, ZNF223, FOXD4, KIF2B, CAMK4, TRIM25ASPHD1


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 ANKRD52_ASPHD1


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 ANKRD52_ASPHD1


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