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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: 1711

FusionGeneSummary for ANKHD1_PCDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKHD1_PCDH1
Fusion gene ID: 1711
HgeneTgene
Gene symbol

ANKHD1

PCDH1

Gene ID

54882

5097

Gene nameankyrin repeat and KH domain containing 1protocadherin 1
SynonymsMASK|MASK1|PP2500|VBARPPC42|PCDH42
Cytomap

5q31.3

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homologprotocadherin-1cadherin-like 1cadherin-like protein 1protocadherin 42
Modification date2018052320180523
UniProtAcc

Q8IWZ3

Q08174

Ensembl transtripts involved in fusion geneENST00000360839, ENST00000297183, 
ENST00000394723, ENST00000394722, 
ENST00000462121, ENST00000544120, 
ENST00000503492, ENST00000287008, 
ENST00000394536, ENST00000456271, 
ENST00000511044, ENST00000536585, 
Fusion gene scores* DoF score18 X 11 X 5=9902 X 2 X 1=4
# samples 122
** MAII scorelog2(12/990*10)=-3.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ANKHD1 [Title/Abstract] AND PCDH1 [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
ChiTaRS3.1XX000011ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
* 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
5CDS-3UTRENST00000360839ENST00000503492ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000360839ENST00000287008ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000360839ENST00000394536ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000360839ENST00000456271ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000360839ENST00000511044ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000360839ENST00000536585ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000297183ENST00000503492ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000297183ENST00000287008ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000297183ENST00000394536ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000297183ENST00000456271ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000297183ENST00000511044ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000297183ENST00000536585ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000394723ENST00000503492ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000394723ENST00000287008ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394723ENST00000394536ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394723ENST00000456271ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394723ENST00000511044ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394723ENST00000536585ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000394722ENST00000503492ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-3UTRENST00000394722ENST00000287008ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394722ENST00000394536ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394722ENST00000456271ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394722ENST00000511044ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
5CDS-intronENST00000394722ENST00000536585ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-3UTRENST00000462121ENST00000503492ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-3UTRENST00000462121ENST00000287008ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000462121ENST00000394536ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000462121ENST00000456271ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000462121ENST00000511044ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000462121ENST00000536585ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-3UTRENST00000544120ENST00000503492ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-3UTRENST00000544120ENST00000287008ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000544120ENST00000394536ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000544120ENST00000456271ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000544120ENST00000511044ANKHD1chr5

139825560

+PCDH1chr5

141234003

-
intron-intronENST00000544120ENST00000536585ANKHD1chr5

139825560

+PCDH1chr5

141234003

-

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FusionProtFeatures for ANKHD1_PCDH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKHD1

Q8IWZ3

PCDH1

Q08174

May be involved in cell-cell interaction processes andin cell adhesion.

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 ANKHD1_PCDH1


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 ANKHD1_PCDH1


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
ANKHD1POLR2M, UNC93B1, SIRT7, CAND1, ATXN1, ATXN1L, VCP, NFKBIE, ZNF346, ADARB2, MOV10, NXF1, HOXC4, MAGEA1, ZC3H3, FOSL2, SFRP4, RBM23, SEC16A, CDT1, SKA3, FOS, FOXQ1, STX11, FGF8, TRIM41, FGF3, SIX2, HOXD4, IRF9, AKAP17A, ZNF263, ZNF433, IL17RA, H2AFX, NOB1, C6orf141, TULP3, CERKL, CDX1, TRIM25PCDH1VKORC1, ALB, SMAD3, ABCA2, DBI, SSFA2, GTF3C3, TRIB1, ZNFX1, CWF19L2, 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 ANKHD1_PCDH1


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 ANKHD1_PCDH1


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