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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: 22025

FusionGeneSummary for MIR548F1_SPG21

check button Fusion gene summary
Fusion gene informationFusion gene name: MIR548F1_SPG21
Fusion gene ID: 22025
HgeneTgene
Gene symbol

MIR548F1

SPG21

Gene ID

100302192

51324

Gene namemicroRNA 548f-1SPG21, maspardin
SynonymsMIR548F-1|MIRN548F1|hsa-mir-548f-1ACP33|BM-019|GL010|MAST
Cytomap

10q21.1

15q22.31

Type of genencRNAprotein-coding
Description-maspardinacid cluster protein 33spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Modification date2018032920180519
UniProtAcc

Q9NZD8

Ensembl transtripts involved in fusion geneENST00000408667, ENST00000204566, 
ENST00000559199, ENST00000433215, 
ENST00000416889, ENST00000560564, 
Fusion gene scores* DoF score4 X 5 X 1=202 X 2 X 1=4
# samples 72
** MAII scorelog2(7/20*10)=1.8073549220576
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: MIR548F1 [Title/Abstract] AND SPG21 [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
ChiTaRS3.1BF884941MIR548F1chr1

186315271

-SPG21chr15

65279724

-
* 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
intron-intronENST00000408667ENST00000204566MIR548F1chr1

186315271

-SPG21chr15

65279724

-
intron-intronENST00000408667ENST00000559199MIR548F1chr1

186315271

-SPG21chr15

65279724

-
intron-intronENST00000408667ENST00000433215MIR548F1chr1

186315271

-SPG21chr15

65279724

-
intron-intronENST00000408667ENST00000416889MIR548F1chr1

186315271

-SPG21chr15

65279724

-
intron-intronENST00000408667ENST00000560564MIR548F1chr1

186315271

-SPG21chr15

65279724

-

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FusionProtFeatures for MIR548F1_SPG21


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MIR548F1

SPG21

Q9NZD8

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. May play a role as a negative regulatory factor in CD4-dependent T-cell activation. {ECO:0000269|PubMed:11113139}.

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 MIR548F1_SPG21


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 MIR548F1_SPG21


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


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RelatedDrugs for MIR548F1_SPG21


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 MIR548F1_SPG21


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPG21C0001973Alcoholic Intoxication, Chronic1PSYGENET