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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: 35517

FusionGeneSummary for SPAG5_BLMH

check button Fusion gene summary
Fusion gene informationFusion gene name: SPAG5_BLMH
Fusion gene ID: 35517
HgeneTgene
Gene symbol

SPAG5

BLMH

Gene ID

10615

642

Gene namesperm associated antigen 5bleomycin hydrolase
SynonymsDEEPEST|MAP126|hMAP126BH|BMH
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionsperm-associated antigen 5astrinmitotic spindle associated protein p126mitotic spindle coiled-coil related proteinbleomycin hydrolaseBLM hydrolase
Modification date2018052220180523
UniProtAcc

Q96R06

Q13867

Ensembl transtripts involved in fusion geneENST00000321765, ENST00000261714, 
ENST00000394819, ENST00000582669, 
Fusion gene scores* DoF score6 X 6 X 4=1445 X 4 X 4=80
# samples 85
** MAII scorelog2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPAG5 [Title/Abstract] AND BLMH [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-A2-A25B-01ASPAG5chr17

26925528

-BLMHchr17

28576186

-
* 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
In-frameENST00000321765ENST00000261714SPAG5chr17

26925528

-BLMHchr17

28576186

-
Frame-shiftENST00000321765ENST00000394819SPAG5chr17

26925528

-BLMHchr17

28576186

-
5CDS-intronENST00000321765ENST00000582669SPAG5chr17

26925528

-BLMHchr17

28576186

-

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FusionProtFeatures for SPAG5_BLMH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPAG5

Q96R06

BLMH

Q13867

Essential component of the mitotic spindle required fornormal chromosome segregation and progression into anaphase(PubMed:11724960, PubMed:12356910, PubMed:27462074). Required forchromosome alignment, normal timing of sister chromatidsegregation, and maintenance of spindle pole architecture(PubMed:17664331, PubMed:27462074). In complex with SKAP, promotesstable microtubule-kinetochore attachments. May contribute to theregulation of separase activity. May regulate AURKA localizationto mitotic spindle, but not to centrosomes and CCNB1 localizationto both mitotic spindle and centrosomes (PubMed:18361916,PubMed:21402792). Involved in centriole duplication. Required forCDK5RAP2, CEP152, WDR62 and CEP63 centrosomal localization andpromotes the centrosomal localization of CDK2 (PubMed:26297806).In non-mitotic cells, upon stress induction, inhibits mammaliantarget of rapamycin complex 1 (mTORC1) association and recruitsthe mTORC1 component RPTOR to stress granules (SGs), therebypreventing mTORC1 hyperactivation-induced apoptosis(PubMed:23953116). May enhance GSK3B-mediated phosphorylation ofother substrates, such as MAPT/TAU (PubMed:18055457).{ECO:0000269|PubMed:12356910, ECO:0000269|PubMed:17664331,ECO:0000269|PubMed:18055457, ECO:0000269|PubMed:18361916,ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:23953116,ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:27462074,ECO:0000305|PubMed:11724960}. The normal physiological role of BLM hydrolase isunknown, but it catalyzes the inactivation of the antitumor drugBLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cellsfrom BLM toxicity. {ECO:0000250}.

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
HgeneSPAG5chr17:26925528chr17:28576186ENST00000321765-224545_608591194Coiled coilOntology_term=ECO:0000255
HgeneSPAG5chr17:26925528chr17:28576186ENST00000321765-224759_868591194Coiled coilOntology_term=ECO:0000255
HgeneSPAG5chr17:26925528chr17:28576186ENST00000321765-224979_1174591194Coiled coilOntology_term=ECO:0000255
HgeneSPAG5chr17:26925528chr17:28576186ENST00000321765-224617_789591194Compositional biasNote=Gln-rich


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FusionGeneSequence for SPAG5_BLMH


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_SPAG5_ENST00000321765_chr17_26925528_-_BLMH_ENST00000261714_chr17_28576186_-_109aa
MWRVKKLSLSLSPSPQTGKPSMRTPLRELTLQPGALTNSGKRSPACSSLTPSLCKLGLQVTCAXQMSGSLSMSTKWWWTGSMSLKRCXLC


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SPAG5_ENST00000321765_chr17_26925528_-_BLMH_ENST00000261714_chr17_28576186_-_329nt
ATGTGGCGAGTGAAAAAACTGAGCCTCAGCCTGTCGCCTTCGCCCCAGACGGGAAAACCATCTATGAGAACTCCTCTCCGTGAACTTACC
CTGCAGCCCGGTGCCCTCACCAACTCTGGAAAAAGATCCCCCGCTTGCTCCTCGCTGACCCCATCACTGTGCAAGCTGGGGCTGCAGGTT
ACCTGTGCATGACAGATGAGTGGTTCTCTGAGTATGTCTACGAAGTGGTGGTGGACAGGAAGCATGTCCCTGAAGAGGTGCTAGCTGTGT


* Fusion transcript sequences (Full-length transcript).
>In-frame_SPAG5_ENST00000321765_chr17_26925528_-_BLMH_ENST00000261714_chr17_28576186_-_1479nt
CAGGAGGGATGGACTCCTGGACTCTCCAGCTACCTGCGTGGTCCTCCCCGGTGTGAGGACAGAAGACCGGTCCTGGGCCGGGCCCGCATC
CAGCCCTACCGCCGGTGTCTGAGGTGAGGGCTCCGTCAGCGGAAAACGCTCGACAACGGAGGGGCAGGCAGGGCCGGGGGCGTGGTCAAC
GCGGGCCCCGCCCCCCGGGCTCTACCCCCGAGCGTACGCGCGCGCCTGAAGCAGCCAACCAGGAAGCGCAGAGCAGGTTCAAACACAGAC
GGCGGGTGAACATGGCGTCCTCGACTTGGTCTGAGACGTGATAGGCCTGCCTTCTGGTTGAAGATGTGGCGAGTGAAAAAACTGAGCCTC
AGCCTGTCGCCTTCGCCCCAGACGGGAAAACCATCTATGAGAACTCCTCTCCGTGAACTTACCCTGCAGCCCGGTGCCCTCACCAACTCT
GGAAAAAGATCCCCCGCTTGCTCCTCGCTGACCCCATCACTGTGCAAGCTGGGGCTGCAGGTTACCTGTGCATGACAGATGAGTGGTTCT
CTGAGTATGTCTACGAAGTGGTGGTGGACAGGAAGCATGTCCCTGAAGAGGTGCTAGCTGTGTTAGAGCAGGAACCCATTATCCTGCCAG
CATGGGACCCCATGGGAGCTTTGGCTGAGTGATACTGCCCTCCAGCTCTTTCCTCCTTCCATGGAACCTGACGTAGCTGCAAAGGACAGA
TCCAGGGACTGAAGCCAAAGTTATGCAAGGGACTGTGTGTTGCCACAGGACACAGTCAGATTTCCAGTCTCCACCAGGAACCTCTTCAGA
AAGTGTGCTTTATGCTGAAACAGAATACTGTTAAAGGAAAAAAAAGAGGGGGGAAGATCAGGTCATACTATCTACTCTCCTCATCTCTAA
CAGCTCAGGATCTCTTAGCATTTTAATTAGATGTAATTGTTTGTCTTTAACTGTCAAAAAGTTTGGTTCTGTGTCTGTGTTTTAATAAGA
CGAGAGGACGAGCGATTGAGGTGTATGGAGAGAAAACAGACCTAATGCTCCTTGTTCCTAGAGTAGAGTGGAGGGAGGGTGGCCTAAGAG
TTGAGCTCTCGGAACTGCATGCTGCTGGACAGTATCACTGTCTTTCCTAGATGGCAGTCACTGAATTCCATTTTTTCAAGGTAATTTCTT
GTGCCTCTAATAGCCCAAGAATGGGAGGTTGATCAGATCTGACATGATTCCTTCCTGTTCTGAACTGTGGGGTGTGCACATCTCTGCTTG
AGTCAGGTTTGAGTAGAGGCTTAGAGACAGTTGGGTGAGAACAACCAAAATCTTATCATGGTCTCAGTCATAATCATTAGGGGGAACTCT
AGCCAAATGGTTTAACTTCTGCCTGTGGAACTGGGGATTGGGTGGGCAGGAAAAGGTGATATCCATTCTTTCTGATAACTAGATGGTGCT


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FusionGenePPI for SPAG5_BLMH


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
SPAG5SNAPIN, CDK1, CEBPD, ATN1, HECW2, ARNT2, FMR1, IQCE, BARD1, DCX, POLR2L, SMARCE1, EIF4E2, FBXO28, ORC6, AMOTL2, CCHCR1, CHCHD3, C1orf109, RBM41, LGALS14, TSHZ3, SH2D4A, TTC23, ZC2HC1C, CCDC33, LINGO1, HAUS1, SNAP47, ZMAT2, CDC20B, ZFC3H1, KANSL1, GOLGA8EP, GOLGA8F, CEP170, SRGAP3, DTNBP1, IFT57, C17orf59, CCDC67, KIAA0753, CCDC14, MED4, RPGRIP1L, OFD1, SPICE1, CEP44, DCTN1, ZNF385C, ZFYVE26, ENKD1, ZGPAT, DYNLL1, MAPRE1, MID1, MID2, NLGN3, RINT1, COPS7B, RIC8A, SYCE3, TSPYL1, CCDC89, MED21, RHPN1, BFSP2, EMILIN1, CCDC22, TSKS, KIAA1467, COG6, PLK1, SLC9C1, TUBA3C, MED1, NEURL4BLMHUBE2I, KBTBD7, BLMH, TRIO, APP, RPL11, RPL29, USP53, PDPK1, CUL4B, COPS5, CYP2C8, ECSIT, MAST1, RNF32, AP1M2, GORASP2, GTF2A1, LZTFL1, PES1, SH3GLB2, ZBTB1, WDYHV1, NUDT12, CCDC8, ALDOC, G6PD, HERC2, HNRNPD, LIMK1, MAPK8, SORT1, USP7, G3BP1, SYNCRIP, MAPRE1, ATL3, ANLN, SGTB, PCDHB15, BAG6, MCM2, PTP4A1, KERA, CYLD, TRIM25


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
HgeneSPAG5chr17:26925528chr17:28576186ENST00000321765-224482_850591194KNSTRN


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SPAG5_BLMH


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 SPAG5_BLMH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPAG5C0000786Spontaneous abortion1CTD_human