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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: 15849

FusionGeneSummary for HAUS6_PMPCA

check button Fusion gene summary
Fusion gene informationFusion gene name: HAUS6_PMPCA
Fusion gene ID: 15849
HgeneTgene
Gene symbol

HAUS6

PMPCA

Gene ID

54801

23203

Gene nameHAUS augmin like complex subunit 6peptidase, mitochondrial processing alpha subunit
SynonymsDgt6|FAM29AAlpha-MPP|CLA1|CPD3|INPP5E|P-55|SCAR2
Cytomap

9p22.1

9q34.3

Type of geneprotein-codingprotein-coding
DescriptionHAUS augmin-like complex subunit 6dim gamma-tubulin homologfamily with sequence similarity 29, member Amitochondrial-processing peptidase subunit alphaCerebellar ataxia-1cerebellar ataxia 1 (autosomal recessive)inositol polyphosphate-5-phosphatase, 72 kDmitochondrial matrix processing protease, alpha subunit
Modification date2018051920180523
UniProtAcc

Q7Z4H7

Q10713

Ensembl transtripts involved in fusion geneENST00000380502, ENST00000380496, 
ENST00000371720, ENST00000371717, 
ENST00000399219, ENST00000462616, 
Fusion gene scores* DoF score4 X 4 X 6=965 X 4 X 3=60
# samples 65
** MAII scorelog2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HAUS6 [Title/Abstract] AND PMPCA [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
TCGARVHNSCTCGA-DQ-7589-01AHAUS6chr9

19094315

-PMPCAchr9

139306942

+
* 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-shitENST00000380502ENST00000371720HAUS6chr9

19094315

-PMPCAchr9

139306942

+
Frame-shitENST00000380502ENST00000371717HAUS6chr9

19094315

-PMPCAchr9

139306942

+
5CDS-5UTRENST00000380502ENST00000399219HAUS6chr9

19094315

-PMPCAchr9

139306942

+
5CDS-intronENST00000380502ENST00000462616HAUS6chr9

19094315

-PMPCAchr9

139306942

+
intron-3CDSENST00000380496ENST00000371720HAUS6chr9

19094315

-PMPCAchr9

139306942

+
intron-3CDSENST00000380496ENST00000371717HAUS6chr9

19094315

-PMPCAchr9

139306942

+
intron-5UTRENST00000380496ENST00000399219HAUS6chr9

19094315

-PMPCAchr9

139306942

+
intron-intronENST00000380496ENST00000462616HAUS6chr9

19094315

-PMPCAchr9

139306942

+

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FusionProtFeatures for HAUS6_PMPCA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HAUS6

Q7Z4H7

PMPCA

Q10713

Cleaves presequences (transit peptides) frommitochondrial protein precursors. {ECO:0000269|PubMed:25808372}.

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 HAUS6_PMPCA


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 HAUS6_PMPCA


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
HAUS6NLRX1, HAUS4, HAUS3, HAUS1, HAUS2, HAUS5, HAUS7, HAUS8, NEDD1, RBM7, YBX3, ELAVL1, APP, KDM1A, MLF1, NTRK1, MED4, SSX2IP, OFD1, PCM1, CCP110, CEP170, KIAA0753, CEP104, CEP162, CEP290, CEP120, CEP152, SPICE1, CEP128, CEP135, CEP44, CEP63, CEP89, CNTRL, FBF1, NINL, NIN, ODF2, RPGRIP1L, DCTN1, POC5, LCA5, SASS6, RPGRIP1, CENPJ, XPO1, NIPSNAP1, CDC16, C6orf141, NPAS1, MAX, ARNTL, RPRD1A, PHLDB3, PTRF, PHF21A, OIP5, CCDC93, CCDC132, HMG20A, RCOR1, GRIPAP1, DZIP3, VPS53, PSMD9, CLOCK, RABGAP1L, GOLGA5, TUFT1, YEATS4, CCHCR1, TFPT, NCKAP5L, PKN3, GIT2, NUF2, THAP11, RABGEF1, JUN, VPS51PMPCAMARK2, ICT1, COPS2, SKIV2L, MAGIX, MRPS30, CDRT15, C17orf102, GAA, PNPT1, PMPCB, UQCRC1, SPATA20, NIT1, COQ10A, CISD3, PPM1K, ADCK4, CHCHD2, NDUFS3, C2orf47, NME4, BOLA1, C15orf48, PAK7, NDUFAF4, ADCK3, LYRM1, ACN9, APOOL, LYRM4, DHRS4, COQ6, ATP5A1, WBSCR16, COQ9, MCCC2, SPRYD4, C6orf57, ACP6, C17orf89, IVD, C6orf203, CHCHD1, C7orf55, CECR5, COQ7, SUGCT, PREPL, PDP1, NUDT8, HLTF, RPUSD2, C4orf26, NPPA, SPINK2, CLUH, RNMTL1, GHITM, CGB2, CCDC69, MTG2, CA5A, DEFB1, PTPN7, PTPN9


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 HAUS6_PMPCA


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 HAUS6_PMPCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePMPCAC1859298SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22ORPHANET;UNIPROT