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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: 1273

FusionGeneSummary for AIM1_HELLS

check button Fusion gene summary
Fusion gene informationFusion gene name: AIM1_HELLS
Fusion gene ID: 1273
HgeneTgene
Gene symbol

AIM1

HELLS

Gene ID

51151

3070

Gene namesolute carrier family 45 member 2helicase, lymphoid specific
Synonyms1A1|AIM1|MATP|OCA4|SHEP5ICF4|LSH|Nbla10143|PASG|SMARCA6
Cytomap

5p13.2

10q23.33

Type of geneprotein-codingprotein-coding
Descriptionmembrane-associated transporter proteinmelanoma antigen AIM1protein AIM-1underwhitelymphoid-specific helicaseSWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6proliferation-associated SNF2-like protein
Modification date2018051920180522
UniProtAcc

Q9NRZ9

Ensembl transtripts involved in fusion geneENST00000369066, ENST00000535438, 
ENST00000487681, 
ENST00000394036, 
ENST00000394045, ENST00000348459, 
ENST00000371332, ENST00000239026, 
ENST00000394044, ENST00000462057, 
Fusion gene scores* DoF score7 X 5 X 3=1055 X 4 X 3=60
# samples 77
** MAII scorelog2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AIM1 [Title/Abstract] AND HELLS [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
ChiTaRS3.1AU136737AIM1chr6

106978190

+HELLSchr10

96347986

+
* 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-3UTRENST00000369066ENST00000394036AIM1chr6

106978190

+HELLSchr10

96347986

+
5CDS-3UTRENST00000369066ENST00000394045AIM1chr6

106978190

+HELLSchr10

96347986

+
5CDS-3UTRENST00000369066ENST00000348459AIM1chr6

106978190

+HELLSchr10

96347986

+
5CDS-3UTRENST00000369066ENST00000371332AIM1chr6

106978190

+HELLSchr10

96347986

+
5CDS-3UTRENST00000369066ENST00000239026AIM1chr6

106978190

+HELLSchr10

96347986

+
5CDS-intronENST00000369066ENST00000394044AIM1chr6

106978190

+HELLSchr10

96347986

+
5CDS-intronENST00000369066ENST00000462057AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000535438ENST00000394036AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000535438ENST00000394045AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000535438ENST00000348459AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000535438ENST00000371332AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000535438ENST00000239026AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-intronENST00000535438ENST00000394044AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-intronENST00000535438ENST00000462057AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000487681ENST00000394036AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000487681ENST00000394045AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000487681ENST00000348459AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000487681ENST00000371332AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-3UTRENST00000487681ENST00000239026AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-intronENST00000487681ENST00000394044AIM1chr6

106978190

+HELLSchr10

96347986

+
intron-intronENST00000487681ENST00000462057AIM1chr6

106978190

+HELLSchr10

96347986

+

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FusionProtFeatures for AIM1_HELLS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AIM1

HELLS

Q9NRZ9

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}.

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 AIM1_HELLS


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 AIM1_HELLS


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 AIM1_HELLS


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 AIM1_HELLS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHELLSC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneHELLSC0032460Polycystic Ovary Syndrome1CTD_human