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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: 34827

FusionGeneSummary for SMARCC1_SPINK8

check button Fusion gene summary
Fusion gene informationFusion gene name: SMARCC1_SPINK8
Fusion gene ID: 34827
HgeneTgene
Gene symbol

SMARCC1

SPINK8

Gene ID

6599

646424

Gene nameSWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1serine peptidase inhibitor, Kazal type 8 (putative)
SynonymsBAF155|CRACC1|Rsc8|SRG3|SWI3-
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
DescriptionSWI/SNF complex subunit SMARCC1BRG1-associated factor 155SWI/SNF complex 155 kDa subunitSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1chromatin remodeling complex BAF155 subunitmammalian chromatin remodeserine protease inhibitor Kazal-type 8
Modification date2018052320180403
UniProtAcc

Q92922

P0C7L1

Ensembl transtripts involved in fusion geneENST00000254480, ENST00000425518, 
ENST00000434006, 
Fusion gene scores* DoF score13 X 10 X 9=11704 X 1 X 8=32
# samples 1711
** MAII scorelog2(17/1170*10)=-2.78290187833307
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/32*10)=1.78135971352466
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMARCC1 [Title/Abstract] AND SPINK8 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneSMARCC1

GO:0006337

nucleosome disassembly

8895581

HgeneSMARCC1

GO:0006338

chromatin remodeling

10078207|11018012|11726552

HgeneSMARCC1

GO:0045893

positive regulation of transcription, DNA-templated

11018012


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
TCGALDOVTCGA-24-2293-01ASMARCC1chr3

47721927

-SPINK8chr3

48351436

-
TCGARVPRADTCGA-HC-8265-01BSMARCC1chr3

47777524

-SPINK8chr3

48351436

-
TCGALDPRADTCGA-HC-8265-01ASMARCC1chr3

47777524

-SPINK8chr3

48351436

-
* 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-frameENST00000254480ENST00000434006SMARCC1chr3

47721927

-SPINK8chr3

48351436

-
5UTR-3CDSENST00000425518ENST00000434006SMARCC1chr3

47721927

-SPINK8chr3

48351436

-
Frame-shiftENST00000254480ENST00000434006SMARCC1chr3

47777524

-SPINK8chr3

48351436

-
5UTR-3CDSENST00000425518ENST00000434006SMARCC1chr3

47777524

-SPINK8chr3

48351436

-

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FusionProtFeatures for SMARCC1_SPINK8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMARCC1

Q92922

SPINK8

P0C7L1

Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. May stimulate the ATPase activity of thecatalytic subunit of the complex (PubMed:10078207). Belongs to theneural progenitors-specific chromatin remodeling complex (npBAFcomplex) and the neuron-specific chromatin remodeling complex(nBAF complex). During neural development a switch from astem/progenitor to a postmitotic chromatin remodeling mechanismoccurs as neurons exit the cell cycle and become committed totheir adult state. The transition from proliferating neuralstem/progenitor cells to postmitotic neurons requires a switch insubunit composition of the npBAF and nBAF complexes. As neuralprogenitors exit mitosis and differentiate into neurons, npBAFcomplexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45Bor DPF3/BAF45C subunits in neuron-specific complexes (nBAF). ThenpBAF complex is essential for the self-renewal/proliferativecapacity of the multipotent neural stem cells. The nBAF complexalong with CREST plays a role regulating the activity of genesessential for dendrite growth (By similarity).{ECO:0000250|UniProtKB:P97496, ECO:0000269|PubMed:10078207,ECO:0000269|PubMed:11018012, ECO:0000303|PubMed:22952240,ECO:0000303|PubMed:26601204}. Probable serine protease inhibitor. {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
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528329_3364851106Compositional biasNote=Poly-Pro

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528914_9464851106Coiled coilOntology_term=ECO:0000255
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528769_8634851106Compositional biasNote=Glu-rich
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528867_8784851106Compositional biasNote=Poly-Ala
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528977_11054851106Compositional biasNote=Pro-rich
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528449_5464851106DomainSWIRM
HgeneSMARCC1chr3:47721927chr3:48351436ENST00000254480-1528618_6694851106DomainSANT
TgeneSPINK8chr3:47721927chr3:48351436ENST00000434006-2536_967998DomainKazal-like


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FusionGeneSequence for SMARCC1_SPINK8


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_SMARCC1_ENST00000254480_chr3_47721927_-_SPINK8_ENST00000434006_chr3_48351436_-_504aa
MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQED
AFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKL
ANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWI
LDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKE
EDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNVTEQTNHII


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SMARCC1_ENST00000254480_chr3_47721927_-_SPINK8_ENST00000434006_chr3_48351436_-_1512nt
ATGGCCGCAGCGGCGGGCGGCGGCGGGCCGGGGACAGCGGTAGGCGCCACGGGCTCGGGGATTGCGGCGGCAGCCGCAGGCCTAGCTGTT
TATCGACGGAAGGATGGGGGCCCGGCCACCAAGTTTTGGGAGAGCCCGGAGACGGTGTCCCAGCTGGATTCGGTGCGGGTCTGGCTGGGC
AAGCACTACAAGAAGTATGTTCATGCGGATGCTCCTACCAATAAAACACTGGCTGGGCTGGTGGTGCAGCTTCTTCAGTTCCAGGAAGAT
GCCTTTGGGAAGCATGTCACCAACCCGGCCTTCACCAAACTCCCTGCAAAGTGTTTCATGGATTTCAAAGCTGGAGGCGCCTTATGTCAC
ATTCTTGGGGCTGCTTACAAGTATAAAAATGAACAGGGATGGCGGAGGTTTGACCTACAGAACCCATCTCGAATGGATCGTAATGTGGAA
ATGTTTATGAACATTGAAAAAACATTGGTGCAGAACAATTGTTTGACCAGACCCAACATCTACCTCATTCCAGACATTGATCTGAAGTTG
GCTAACAAATTGAAAGATATCATCAAACGACATCAGGGAACATTTACGGATGAGAAGTCAAAAGCTTCCCACCACATTTACCCATATTCT
TCCTCACAAGACGATGAAGAATGGTTGAGACCGGTGATGAGAAAAGAGAAGCAAGTGTTAGTGCATTGGGGCTTTTACCCAGACAGCTAT
GATACTTGGGTCCATAGTAATGATGTTGATGCTGAAATTGAAGATCCACCAATTCCAGAAAAACCATGGAAGGTTCATGTGAAATGGATT
TTGGACACTGATATTTTCAATGAATGGATGAATGAGGAGGATTATGAGGTGGATGAAAATAGGAAGCCTGTGAGTTTTCGTCAGCGGATT
TCAACCAAGAATGAAGAGCCAGTCAGAAGTCCAGAAAGAAGAGATAGAAAAGCATCAGCTAATGCTCGAAAGAGGAAACATTCGCCTTCG
CCTCCCCCTCCGACACCAACAGAATCACGGAAGAAGAGTGGGAAGAAAGGCCAAGCTAGCCTTTATGGGAAGCGCAGAAGTCAGAAAGAG
GAAGATGAGCAAGAAGATCTAACCAAGGATATGGAAGACCCAACACCTGTACCCAATATAGAAGAAGTAGTACTTCCCAAAAATGTGAAC
CTAAAGAAAGATAGTGAAAATACACCTGTTAAAGGAGGAACTGTAGCGGATCTAGATGAGCAGGATGAAGAAACAGTCACAGCAGGAGGA
AAGGAAGATGAAGATCCTGCCAAAGGTGATCAGAGTCGATCAGTTGACCTTGGGGAAGATAATGTGACAGAGCAGACCAATCACATTATT
ATTCCTAGTTATGCATCATGGTTTGATTATAACTGTATTCATGTGATTGAACGGCGTGCTCTTCCTGAGTTCTTCAATGGAAAAAACAAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_SMARCC1_ENST00000254480_chr3_47721927_-_SPINK8_ENST00000434006_chr3_48351436_-_1778nt
GGCTGGGCGGGGCCGGGAAGCGGCAGTGGCGGCTACGCGCGCGGGGGTGCGCGCGGGAACGACCGGGAAACACCGCGAGGGCCGGGGTGG
GCCAGGCTGTGGGGACGACGGGCTGCGACGATGGCCGCAGCGGCGGGCGGCGGCGGGCCGGGGACAGCGGTAGGCGCCACGGGCTCGGGG
ATTGCGGCGGCAGCCGCAGGCCTAGCTGTTTATCGACGGAAGGATGGGGGCCCGGCCACCAAGTTTTGGGAGAGCCCGGAGACGGTGTCC
CAGCTGGATTCGGTGCGGGTCTGGCTGGGCAAGCACTACAAGAAGTATGTTCATGCGGATGCTCCTACCAATAAAACACTGGCTGGGCTG
GTGGTGCAGCTTCTTCAGTTCCAGGAAGATGCCTTTGGGAAGCATGTCACCAACCCGGCCTTCACCAAACTCCCTGCAAAGTGTTTCATG
GATTTCAAAGCTGGAGGCGCCTTATGTCACATTCTTGGGGCTGCTTACAAGTATAAAAATGAACAGGGATGGCGGAGGTTTGACCTACAG
AACCCATCTCGAATGGATCGTAATGTGGAAATGTTTATGAACATTGAAAAAACATTGGTGCAGAACAATTGTTTGACCAGACCCAACATC
TACCTCATTCCAGACATTGATCTGAAGTTGGCTAACAAATTGAAAGATATCATCAAACGACATCAGGGAACATTTACGGATGAGAAGTCA
AAAGCTTCCCACCACATTTACCCATATTCTTCCTCACAAGACGATGAAGAATGGTTGAGACCGGTGATGAGAAAAGAGAAGCAAGTGTTA
GTGCATTGGGGCTTTTACCCAGACAGCTATGATACTTGGGTCCATAGTAATGATGTTGATGCTGAAATTGAAGATCCACCAATTCCAGAA
AAACCATGGAAGGTTCATGTGAAATGGATTTTGGACACTGATATTTTCAATGAATGGATGAATGAGGAGGATTATGAGGTGGATGAAAAT
AGGAAGCCTGTGAGTTTTCGTCAGCGGATTTCAACCAAGAATGAAGAGCCAGTCAGAAGTCCAGAAAGAAGAGATAGAAAAGCATCAGCT
AATGCTCGAAAGAGGAAACATTCGCCTTCGCCTCCCCCTCCGACACCAACAGAATCACGGAAGAAGAGTGGGAAGAAAGGCCAAGCTAGC
CTTTATGGGAAGCGCAGAAGTCAGAAAGAGGAAGATGAGCAAGAAGATCTAACCAAGGATATGGAAGACCCAACACCTGTACCCAATATA
GAAGAAGTAGTACTTCCCAAAAATGTGAACCTAAAGAAAGATAGTGAAAATACACCTGTTAAAGGAGGAACTGTAGCGGATCTAGATGAG
CAGGATGAAGAAACAGTCACAGCAGGAGGAAAGGAAGATGAAGATCCTGCCAAAGGTGATCAGAGTCGATCAGTTGACCTTGGGGAAGAT
AATGTGACAGAGCAGACCAATCACATTATTATTCCTAGTTATGCATCATGGTTTGATTATAACTGTATTCATGTGATTGAACGGCGTGCT
CTTCCTGAGTTCTTCAATGGAAAAAACAAATCCAAGACTCCAGAAATATTTGAAGGGCTTAACATAACTAAACTGTATGATGGACAATGT
GAAAACTCTTGAACGTACGACAAAGAATTATAAAACCTACTGAATCTCCAGATTGCCAAGTGAAACACAATGGTTGCCTCTTCAAATATA


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FusionGenePPI for SMARCC1_SPINK8


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
SMARCC1RELB, NR3C1, SMARCD1, SMARCB1, SMARCA4, SMARCA2, SIN3A, KLF1, GATA1, SP1, TP53, BRCA1, STAT2, CCNE1, HSP90B1, NCOR1, SMARCE1, CEBPB, CDK8, ING1, AR, ING2, TAF10, NR4A1, ARID1A, SMARCC2, PBRM1, ADD1, MCPH1, BCL7C, BRD7, ARID1B, AKT1, PRMT5, MYC, SMARCC1, HNRNPC, CHD4, SRRM2, TAF6, NR0B2, NONO, SMAD2, SMAD3, CARM1, EMD, DPF2, TRIM28, RUNX1, CHD7, ARID2, STK11, WHSC1L1, SMARCAD1, SOX2, ELAVL1, SIRT7, DPF3, PHF10, DPF1, ACTL6A, CUL3, CAND1, BAZ1B, SMARCD2, TOP2B, HDAC1, SMARCA5, RBBP5, KDM1A, SMARCA1, NOTCH1, EPAS1, VCP, HDAC6, ITCH, NEDD4, WWOX, AURKB, OTX1, PLSCR1, ADAMTSL4, MOV10, NXF1, MSL1, EED, RNF2, BMI1, SS18, NTRK1, MESDC2, MRE11A, SAMD9, BCL7A, CPSF6, DCTN2, FUBP1, FUBP3, KHSRP, MDC1, METTL13, NCAPH2, SF3A1, TMOD3, YLPM1, SMARCD3, SS18L1, TBL1XR1, NCOA1, KMT2A, EWSR1, HIST1H3E, RAB5C, NR2C2, FOS, JUN, NFATC1, NFATC2, C1orf131, SFPQ, CHEK1, TRIM25SPINK8


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 SMARCC1_SPINK8


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 SMARCC1_SPINK8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMARCC1C0001418Adenocarcinoma1CTD_human
HgeneSMARCC1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSMARCC1C0024121Lung Neoplasms1CTD_human