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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: 33639

FusionGeneSummary for SH3BP5_HEATR6

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3BP5_HEATR6
Fusion gene ID: 33639
HgeneTgene
Gene symbol

SH3BP5

HEATR6

Gene ID

9467

63897

Gene nameSH3 domain binding protein 5HEAT repeat containing 6
SynonymsSAB|SH3BP-5ABC1
Cytomap

3p25.1

17q23.1

Type of geneprotein-codingprotein-coding
DescriptionSH3 domain-binding protein 5SH3 domain-binding protein that preferentially associates with BTKSH3-domain binding protein 5 (BTK-associated)HEAT repeat-containing protein 6amplified in breast cancer 1amplified in breast cancer protein 1
Modification date2018052320180519
UniProtAcc

O60239

Q6AI08

Ensembl transtripts involved in fusion geneENST00000383791, ENST00000253688, 
ENST00000426925, ENST00000408919, 
ENST00000465894, 		ENST00000184956, 
ENST00000585976, ENST00000585712, 
Fusion gene scores* DoF score3 X 3 X 3=2710 X 9 X 5=450
# samples 410
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SH3BP5 [Title/Abstract] AND HEATR6 [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
HgeneSH3BP5

GO:0035556

intracellular signal transduction

10339589


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
TCGARVBRCATCGA-A7-A26H-01ASH3BP5chr3

15372011

-HEATR6chr17

58123590

-
* 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-frameENST00000383791ENST00000184956SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
In-frameENST00000383791ENST00000585976SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5CDS-intronENST00000383791ENST00000585712SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000253688ENST00000184956SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000253688ENST00000585976SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-intronENST00000253688ENST00000585712SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000426925ENST00000184956SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000426925ENST00000585976SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-intronENST00000426925ENST00000585712SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000408919ENST00000184956SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000408919ENST00000585976SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-intronENST00000408919ENST00000585712SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000465894ENST00000184956SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-3CDSENST00000465894ENST00000585976SH3BP5chr3

15372011

-HEATR6chr17

58123590

-
5UTR-intronENST00000465894ENST00000585712SH3BP5chr3

15372011

-HEATR6chr17

58123590

-

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FusionProtFeatures for SH3BP5_HEATR6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3BP5

O60239

HEATR6

Q6AI08

Inhibits the auto- and transphosphorylation activity ofBTK. Plays a negative regulatory role in BTK-related cytoplasmicsignaling in B-cells. May be involved in BCR-induced apoptoticcell death. {ECO:0000269|PubMed:10339589,ECO:0000269|PubMed:9571151}. Amplification-dependent oncogene.

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
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000383791-2911_6767456Compositional biasNote=Glu-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000383791-2936_4067456Compositional biasNote=Poly-Glu

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000253688-2911_67-90299Compositional biasNote=Glu-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000253688-29278_421-90299Compositional biasNote=Ser-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000253688-2936_40-90299Compositional biasNote=Poly-Glu
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000253688-29405_410-90299Compositional biasNote=Poly-Ser
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000383791-29278_42167456Compositional biasNote=Ser-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000383791-29405_41067456Compositional biasNote=Poly-Ser
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000408919-2911_67-113299Compositional biasNote=Glu-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000408919-29278_421-113299Compositional biasNote=Ser-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000408919-2936_40-113299Compositional biasNote=Poly-Glu
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000408919-29405_410-113299Compositional biasNote=Poly-Ser
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000426925-21111_67-211299Compositional biasNote=Glu-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000426925-211278_421-211299Compositional biasNote=Ser-rich
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000426925-21136_40-211299Compositional biasNote=Poly-Glu
HgeneSH3BP5chr3:15372011chr17:58123590ENST00000426925-211405_410-211299Compositional biasNote=Poly-Ser
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720315_3259231182Compositional biasNote=Poly-Lys
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720330_3359231182Compositional biasNote=Poly-Glu
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720383_3909231182Compositional biasNote=Poly-Ser
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720159_1989231182RepeatNote=HEAT 1
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720452_4909231182RepeatNote=HEAT 2
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720515_5529231182RepeatNote=HEAT 3
TgeneHEATR6chr3:15372011chr17:58123590ENST00000184956-1720558_5959231182RepeatNote=HEAT 4


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FusionGeneSequence for SH3BP5_HEATR6


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_SH3BP5_ENST00000383791_chr3_15372011_-_HEATR6_ENST00000184956_chr17_58123590_-_326aa
MDAALKRSRSEEPAEILPPARDEEEEEEEGMEQGLEEEEEVDPRIQGELEKLNQSTDDINRRETELEVKSNAVRALGNLLHFLQPSHIEK
PTFAEIIEESIQALISTVLTEAAMKVRWNACYAMGNVFKNPALPLGTAPWTSQAYNALTSVVTSCKNFKVRIRSAAALSVPGKREQYGSV
DQYARIWNALVTALQKSEDTIDFLEFKYCVSLRTQICQALIHLLSLASASDLPCMKETLELSGNMVQSYILQFLKSGAEGDDTGAPHSPQ

>In-frame_SH3BP5_ENST00000383791_chr3_15372011_-_HEATR6_ENST00000585976_chr17_58123590_-_326aa
MDAALKRSRSEEPAEILPPARDEEEEEEEGMEQGLEEEEEVDPRIQGELEKLNQSTDDINRRETELEVKSNAVRALGNLLHFLQPSHIEK
PTFAEIIEESIQALISTVLTEAAMKVRWNACYAMGNVFKNPALPLGTAPWTSQAYNALTSVVTSCKNFKVRIRSAAALSVPGKREQYGSV
DQYARIWNALVTALQKSEDTIDFLEFKYCVSLRTQICQALIHLLSLASASDLPCMKETLELSGNMVQSYILQFLKSGAEGDDTGAPHSPQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SH3BP5_ENST00000383791_chr3_15372011_-_HEATR6_ENST00000184956_chr17_58123590_-_978nt
ATGGACGCGGCACTGAAGCGGAGCCGCTCGGAGGAGCCAGCCGAAATCCTGCCGCCTGCCCGGGACGAGGAGGAGGAGGAGGAAGAGGGG
ATGGAGCAGGGGCTGGAGGAGGAAGAAGAGGTGGATCCCCGGATCCAGGGAGAACTGGAGAAGTTAAATCAGTCCACGGATGATATCAAC
AGACGGGAGACTGAACTTGAGGTAAAAAGCAATGCAGTCCGGGCCCTTGGAAATTTGCTTCATTTTCTGCAACCCTCTCATATAGAAAAA
CCCACATTTGCAGAAATCATTGAGGAGTCTATCCAGGCCCTAATTTCTACTGTTCTAACAGAAGCTGCCATGAAAGTCCGATGGAATGCT
TGTTATGCAATGGGAAATGTATTTAAAAATCCTGCCCTTCCTTTAGGGACAGCCCCATGGACCTCCCAGGCCTACAATGCCCTGACATCG
GTCGTGACATCATGCAAGAACTTCAAAGTGCGCATCAGATCTGCAGCTGCCCTTTCCGTCCCGGGGAAGAGAGAGCAGTACGGGTCTGTT
GACCAGTATGCTCGGATCTGGAATGCATTGGTCACCGCTTTACAGAAGAGTGAAGACACCATAGACTTTTTGGAATTCAAGTACTGTGTC
AGCCTACGGACCCAAATCTGCCAGGCACTGATTCACCTCTTGAGCTTGGCCAGTGCCTCGGACCTCCCTTGTATGAAAGAAACCCTTGAA
CTGAGTGGGAATATGGTCCAGTCCTATATTCTACAGTTTTTAAAATCAGGAGCAGAGGGAGATGACACTGGAGCACCCCACAGCCCACAG
GAAAGAGACCAGATGGTCAGAATGGCCCTTAAACACATGGGCAGCATCCAGGCACCAACTGGAGACACAGCCAGAAGGGCCATCATGGGC

>In-frame_SH3BP5_ENST00000383791_chr3_15372011_-_HEATR6_ENST00000585976_chr17_58123590_-_978nt
ATGGACGCGGCACTGAAGCGGAGCCGCTCGGAGGAGCCAGCCGAAATCCTGCCGCCTGCCCGGGACGAGGAGGAGGAGGAGGAAGAGGGG
ATGGAGCAGGGGCTGGAGGAGGAAGAAGAGGTGGATCCCCGGATCCAGGGAGAACTGGAGAAGTTAAATCAGTCCACGGATGATATCAAC
AGACGGGAGACTGAACTTGAGGTAAAAAGCAATGCAGTCCGGGCCCTTGGAAATTTGCTTCATTTTCTGCAACCCTCTCATATAGAAAAA
CCCACATTTGCAGAAATCATTGAGGAGTCTATCCAGGCCCTAATTTCTACTGTTCTAACAGAAGCTGCCATGAAAGTCCGATGGAATGCT
TGTTATGCAATGGGAAATGTATTTAAAAATCCTGCCCTTCCTTTAGGGACAGCCCCATGGACCTCCCAGGCCTACAATGCCCTGACATCG
GTCGTGACATCATGCAAGAACTTCAAAGTGCGCATCAGATCTGCAGCTGCCCTTTCCGTCCCGGGGAAGAGAGAGCAGTACGGGTCTGTT
GACCAGTATGCTCGGATCTGGAATGCATTGGTCACCGCTTTACAGAAGAGTGAAGACACCATAGACTTTTTGGAATTCAAGTACTGTGTC
AGCCTACGGACCCAAATCTGCCAGGCACTGATTCACCTCTTGAGCTTGGCCAGTGCCTCGGACCTCCCTTGTATGAAAGAAACCCTTGAA
CTGAGTGGGAATATGGTCCAGTCCTATATTCTACAGTTTTTAAAATCAGGAGCAGAGGGAGATGACACTGGAGCACCCCACAGCCCACAG
GAAAGAGACCAGATGGTCAGAATGGCCCTTAAACACATGGGCAGCATCCAGGCACCAACTGGAGACACAGCCAGAAGGGCCATCATGGGC


* Fusion transcript sequences (Full-length transcript).
>In-frame_SH3BP5_ENST00000383791_chr3_15372011_-_HEATR6_ENST00000184956_chr17_58123590_-_1568nt
GCGCTGACTGCCGCGGCAGAAAGGGGGCGGCCGCGCCCATTTCCTCTGCTCCGCCGCGGCCGGAGGTATCCGCATCGGCGAGCTGCGTCT
CCCGGGTGTCGGCCCCGGCGGCTCCCCGACCGTGCCCGGCTGTGGCGAGGCGGCTCCAGCCCAGCCTGTGGCAGCCGCGACCCCCGGGGC
GCTCCGGAGCCCACTGCGCGGCGCGCGTGCCGGCTGCCTGCATGGACGCGGCACTGAAGCGGAGCCGCTCGGAGGAGCCAGCCGAAATCC
TGCCGCCTGCCCGGGACGAGGAGGAGGAGGAGGAAGAGGGGATGGAGCAGGGGCTGGAGGAGGAAGAAGAGGTGGATCCCCGGATCCAGG
GAGAACTGGAGAAGTTAAATCAGTCCACGGATGATATCAACAGACGGGAGACTGAACTTGAGGTAAAAAGCAATGCAGTCCGGGCCCTTG
GAAATTTGCTTCATTTTCTGCAACCCTCTCATATAGAAAAACCCACATTTGCAGAAATCATTGAGGAGTCTATCCAGGCCCTAATTTCTA
CTGTTCTAACAGAAGCTGCCATGAAAGTCCGATGGAATGCTTGTTATGCAATGGGAAATGTATTTAAAAATCCTGCCCTTCCTTTAGGGA
CAGCCCCATGGACCTCCCAGGCCTACAATGCCCTGACATCGGTCGTGACATCATGCAAGAACTTCAAAGTGCGCATCAGATCTGCAGCTG
CCCTTTCCGTCCCGGGGAAGAGAGAGCAGTACGGGTCTGTTGACCAGTATGCTCGGATCTGGAATGCATTGGTCACCGCTTTACAGAAGA
GTGAAGACACCATAGACTTTTTGGAATTCAAGTACTGTGTCAGCCTACGGACCCAAATCTGCCAGGCACTGATTCACCTCTTGAGCTTGG
CCAGTGCCTCGGACCTCCCTTGTATGAAAGAAACCCTTGAACTGAGTGGGAATATGGTCCAGTCCTATATTCTACAGTTTTTAAAATCAG
GAGCAGAGGGAGATGACACTGGAGCACCCCACAGCCCACAGGAAAGAGACCAGATGGTCAGAATGGCCCTTAAACACATGGGCAGCATCC
AGGCACCAACTGGAGACACAGCCAGAAGGGCCATCATGGGCTTTTTAGAAGAGATCCTGGCCGTTTGTTTTGACTCATCTGGATCACAAG
GGGCACTCCCAGGGTTAACAAATCAGTGAAGATCCCACCATACTTTCTAGATGTCGAAGGCGGCAGTAGGAAGACCTGAGCTTGAGCATA
AGATCTGTGGGATTTCATCTTAGGGGCAGAAACAATCCGTTCACTATTTATTTAGAATGACTTAGCAGCCATTTAAATTTTCACAGAGGG
CTCAACCACCTTTGGAGTGACTCCATAGCACTGGCCATGGTCAGGGTTGTTGGAACATCTGACCTGTGCATCCAGGAGCCGAGGAGTCAG
GTTGTAATACAGGCCAAGCAGACGGGCTTTGAGGGCATTTAGTCTCAGAAAAAAAAAATGTAGAAGGATTTCGGAATTAGAATTTTGTGT

>In-frame_SH3BP5_ENST00000383791_chr3_15372011_-_HEATR6_ENST00000585976_chr17_58123590_-_1270nt
GCGCTGACTGCCGCGGCAGAAAGGGGGCGGCCGCGCCCATTTCCTCTGCTCCGCCGCGGCCGGAGGTATCCGCATCGGCGAGCTGCGTCT
CCCGGGTGTCGGCCCCGGCGGCTCCCCGACCGTGCCCGGCTGTGGCGAGGCGGCTCCAGCCCAGCCTGTGGCAGCCGCGACCCCCGGGGC
GCTCCGGAGCCCACTGCGCGGCGCGCGTGCCGGCTGCCTGCATGGACGCGGCACTGAAGCGGAGCCGCTCGGAGGAGCCAGCCGAAATCC
TGCCGCCTGCCCGGGACGAGGAGGAGGAGGAGGAAGAGGGGATGGAGCAGGGGCTGGAGGAGGAAGAAGAGGTGGATCCCCGGATCCAGG
GAGAACTGGAGAAGTTAAATCAGTCCACGGATGATATCAACAGACGGGAGACTGAACTTGAGGTAAAAAGCAATGCAGTCCGGGCCCTTG
GAAATTTGCTTCATTTTCTGCAACCCTCTCATATAGAAAAACCCACATTTGCAGAAATCATTGAGGAGTCTATCCAGGCCCTAATTTCTA
CTGTTCTAACAGAAGCTGCCATGAAAGTCCGATGGAATGCTTGTTATGCAATGGGAAATGTATTTAAAAATCCTGCCCTTCCTTTAGGGA
CAGCCCCATGGACCTCCCAGGCCTACAATGCCCTGACATCGGTCGTGACATCATGCAAGAACTTCAAAGTGCGCATCAGATCTGCAGCTG
CCCTTTCCGTCCCGGGGAAGAGAGAGCAGTACGGGTCTGTTGACCAGTATGCTCGGATCTGGAATGCATTGGTCACCGCTTTACAGAAGA
GTGAAGACACCATAGACTTTTTGGAATTCAAGTACTGTGTCAGCCTACGGACCCAAATCTGCCAGGCACTGATTCACCTCTTGAGCTTGG
CCAGTGCCTCGGACCTCCCTTGTATGAAAGAAACCCTTGAACTGAGTGGGAATATGGTCCAGTCCTATATTCTACAGTTTTTAAAATCAG
GAGCAGAGGGAGATGACACTGGAGCACCCCACAGCCCACAGGAAAGAGACCAGATGGTCAGAATGGCCCTTAAACACATGGGCAGCATCC
AGGCACCAACTGGAGACACAGCCAGAAGGGCCATCATGGGCTTTTTAGAAGAGATCCTGGCCGTTTGTTTTGACTCATCTGGATCACAAG
GGGCACTCCCAGGGTTAACAAATCAGTGAAGATCCCACCATACTTTCTAGATGTCGAAGGCGGCAGTAGGAAGACCTGAGCTTGAGCATA


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FusionGenePPI for SH3BP5_HEATR6


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
SH3BP5MAPK8, MAPK9, MAPK10, BTK, CDC5L, DISC1, EXOC1, DST, SYNE1, TNKS, SOS1, SPTBN1, APP, ALB, MOV10, NXF1, RAB11B, XPO1, LIMA1, RAB11AHEATR6CTDSP1, BSG, SPACA1, HLA-B, CD244, SLAMF1, GAS8, RBM15, RPP30, NTRK1, PTEN, SDC2, SNX21, C1orf85, CD79B, IQCF1, PDCD1, PRKAB1, ICAM1, NTRK3


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 SH3BP5_HEATR6


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 SH3BP5_HEATR6


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