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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: 1717

FusionGeneSummary for ANKHD1_PCDHGB6

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKHD1_PCDHGB6
Fusion gene ID: 1717
HgeneTgene
Gene symbol

ANKHD1

PCDHGB6

Gene ID

54882

56100

Gene nameankyrin repeat and KH domain containing 1protocadherin gamma subfamily B, 6
SynonymsMASK|MASK1|PP2500|VBARPPCDH-GAMMA-B6
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 gamma-B6
Modification date2018052320180523
UniProtAcc

Q8IWZ3

Q9Y5F9

Ensembl transtripts involved in fusion geneENST00000360839, ENST00000297183, 
ENST00000394723, ENST00000394722, 
ENST00000462121, ENST00000544120, 
ENST00000520790, 
Fusion gene scores* DoF score18 X 11 X 5=9902 X 2 X 2=8
# samples 122
** MAII scorelog2(12/990*10)=-3.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ANKHD1 [Title/Abstract] AND PCDHGB6 [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
TCGALDBRCATCGA-BH-A209-01AANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+
* 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-shitENST00000360839ENST00000520790ANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+
Frame-shitENST00000297183ENST00000520790ANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+
intron-3CDSENST00000394723ENST00000520790ANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+
intron-3CDSENST00000394722ENST00000520790ANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+
intron-3CDSENST00000462121ENST00000520790ANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+
intron-3CDSENST00000544120ENST00000520790ANKHD1chr5

139866645

+PCDHGB6chr5

140884960

+

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FusionProtFeatures for ANKHD1_PCDHGB6


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

Q8IWZ3

PCDHGB6

Q9Y5F9

Potential calcium-dependent cell-adhesion protein. Maybe involved in the establishment and maintenance of specificneuronal connections in the brain.

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_PCDHGB6


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_PCDHGB6


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, TRIM25PCDHGB6


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_PCDHGB6


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_PCDHGB6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePCDHGB6C1458155Mammary Neoplasms1CTD_human