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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: 1709

FusionGeneSummary for ANKHD1_MASP2

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKHD1_MASP2
Fusion gene ID: 1709
HgeneTgene
Gene symbol

ANKHD1

MASP2

Gene ID

54882

10747

Gene nameankyrin repeat and KH domain containing 1mannan binding lectin serine peptidase 2
SynonymsMASK|MASK1|PP2500|VBARPMAP19|MASP-2|MASP1P1|sMAP
Cytomap

5q31.3

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homologmannan-binding lectin serine protease 2MBL-associated plasma protein of 19 kDMBL-associated serine protease 2mannan-binding lectin serine peptidase 1 pseudogene 1mannan-binding lectin serine protease 1 pseudogene 1mannose-binding protein-associated s
Modification date2018052320180523
UniProtAcc

Q8IWZ3

O00187

Ensembl transtripts involved in fusion geneENST00000360839, ENST00000297183, 
ENST00000394723, ENST00000394722, 
ENST00000462121, ENST00000544120, 
ENST00000400897, ENST00000400898, 
Fusion gene scores* DoF score18 X 11 X 5=9903 X 2 X 2=12
# samples 123
** MAII scorelog2(12/990*10)=-3.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ANKHD1 [Title/Abstract] AND MASP2 [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
TgeneMASP2

GO:0001867

complement activation, lectin pathway

9087411|17182967


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-FX-A3RE-01AANKHD1chr5

139781858

+MASP2chr1

11090307

-
* 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-shitENST00000360839ENST00000400897ANKHD1chr5

139781858

+MASP2chr1

11090307

-
5CDS-intronENST00000360839ENST00000400898ANKHD1chr5

139781858

+MASP2chr1

11090307

-
Frame-shitENST00000297183ENST00000400897ANKHD1chr5

139781858

+MASP2chr1

11090307

-
5CDS-intronENST00000297183ENST00000400898ANKHD1chr5

139781858

+MASP2chr1

11090307

-
Frame-shitENST00000394723ENST00000400897ANKHD1chr5

139781858

+MASP2chr1

11090307

-
5CDS-intronENST00000394723ENST00000400898ANKHD1chr5

139781858

+MASP2chr1

11090307

-
Frame-shitENST00000394722ENST00000400897ANKHD1chr5

139781858

+MASP2chr1

11090307

-
5CDS-intronENST00000394722ENST00000400898ANKHD1chr5

139781858

+MASP2chr1

11090307

-
intron-3CDSENST00000462121ENST00000400897ANKHD1chr5

139781858

+MASP2chr1

11090307

-
intron-intronENST00000462121ENST00000400898ANKHD1chr5

139781858

+MASP2chr1

11090307

-
intron-3CDSENST00000544120ENST00000400897ANKHD1chr5

139781858

+MASP2chr1

11090307

-
intron-intronENST00000544120ENST00000400898ANKHD1chr5

139781858

+MASP2chr1

11090307

-

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FusionProtFeatures for ANKHD1_MASP2


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

Q8IWZ3

MASP2

O00187


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_MASP2


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_MASP2


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, TRIM25MASP2MBL2, MASP1, SERPING1, FCN2


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_MASP2


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_MASP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMASP2C0009324Ulcerative Colitis1CTD_human
TgeneMASP2C0014742Erythema Multiforme1CTD_human
TgeneMASP2C0020951Immune Complex Diseases1CTD_human
TgeneMASP2C0021368Inflammation1CTD_human
TgeneMASP2C0155862Streptococcal pneumonia1CTD_human
TgeneMASP2C3151085MASP2 Deficiency1CTD_human;ORPHANET;UNIPROT