FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 34810

FusionGeneSummary for SMARCAL1_MBP

check button Fusion gene summary
Fusion gene informationFusion gene name: SMARCAL1_MBP
Fusion gene ID: 34810
HgeneTgene
Gene symbol

SMARCAL1

MBP

Gene ID

50485

5553

Gene nameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1proteoglycan 2, pro eosinophil major basic protein
SynonymsHARP|HHARPBMPG|MBP|MBP1|proMBP
Cytomap

2q35

11q12.1

Type of geneprotein-codingprotein-coding
DescriptionSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1ATP-driven annealing helicaseHepA-related proteinSMARCA-like protein 1sucrose nonfermenting protein 2-like 1bone marrow proteoglycaneosinophil granule major basic proteineosinophil major basic proteinnatural killer cell activatorproteoglycan 2 preproproteinproteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)
Modification date2018052620180519
UniProtAcc

Q9NZC9

P02686

Ensembl transtripts involved in fusion geneENST00000357276, ENST00000358207, 
ENST00000479008, 
ENST00000382582, 
ENST00000355994, ENST00000397875, 
ENST00000397866, ENST00000397865, 
ENST00000527041, ENST00000359645, 
ENST00000528160, ENST00000397869, 
ENST00000354542, ENST00000526111, 
ENST00000580402, ENST00000579129, 
ENST00000578193, ENST00000397863, 
ENST00000397860, ENST00000487778, 
Fusion gene scores* DoF score1 X 1 X 1=126 X 20 X 3=1560
# samples 127
** MAII scorelog2(1/1*10)=3.32192809488736log2(27/1560*10)=-2.53051471669878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMARCAL1 [Title/Abstract] AND MBP [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
ChiTaRS3.1DA130152SMARCAL1chr2

217297508

+MBPchr18

74729011

-
* 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
5CDS-5UTRENST00000357276ENST00000382582SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000355994SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000397875SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000397866SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000397865SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000527041SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-intronENST00000357276ENST00000359645SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000528160SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000397869SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000354542SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000526111SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000580402SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000579129SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000578193SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000397863SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000397860SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000357276ENST00000487778SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000382582SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000355994SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000397875SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000397866SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000397865SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000527041SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-intronENST00000358207ENST00000359645SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000528160SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000397869SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000354542SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000526111SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000580402SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000579129SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000578193SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000397863SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000397860SMARCAL1chr2

217297508

+MBPchr18

74729011

-
5CDS-5UTRENST00000358207ENST00000487778SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000382582SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000355994SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000397875SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000397866SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000397865SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000527041SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-intronENST00000479008ENST00000359645SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000528160SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000397869SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000354542SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000526111SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000580402SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000579129SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000578193SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000397863SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000397860SMARCAL1chr2

217297508

+MBPchr18

74729011

-
intron-5UTRENST00000479008ENST00000487778SMARCAL1chr2

217297508

+MBPchr18

74729011

-

Top

FusionProtFeatures for SMARCAL1_MBP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMARCAL1

Q9NZC9

MBP

P02686

ATP-dependent annealing helicase that binds selectivelyto fork DNA relative to ssDNA or dsDNA and catalyzes the rewindingof the stably unwound DNA. Rewinds single-stranded DNA bubblesthat are stably bound by replication protein A (RPA). Actsthroughout the genome to reanneal stably unwound DNA, performingthe opposite reaction of many enzymes, such as helicases andpolymerases, that unwind DNA. May play an important role in DNAdamage response by acting at stalled replication forks.{ECO:0000269|PubMed:18974355, ECO:0000269|PubMed:19793861,ECO:0000269|PubMed:19793862}.

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


Top

FusionGeneSequence for SMARCAL1_MBP


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).

Top

FusionGenePPI for SMARCAL1_MBP


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


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


Top

RelatedDrugs for SMARCAL1_MBP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for SMARCAL1_MBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMARCAL1C0877024Schimke immunoosseous dysplasia3CTD_human;ORPHANET;UNIPROT
TgeneMBPC0036341Schizophrenia4PSYGENET
TgeneMBPC0014072Experimental Autoimmune Encephalomyelitis3CTD_human
TgeneMBPC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneMBPC0011303Demyelinating Diseases1CTD_human
TgeneMBPC0027873Neuromyelitis Optica1CTD_human