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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: 16938

FusionGeneSummary for HTN3_RIMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: HTN3_RIMS1
Fusion gene ID: 16938
HgeneTgene
Gene symbol

HTN3

RIMS1

Gene ID

3347

22999

Gene namehistatin 3regulating synaptic membrane exocytosis 1
SynonymsHIS2|HTN2|HTN5CORD7|RAB3IP2|RIM|RIM1
Cytomap

4q13.3

6q13

Type of geneprotein-codingprotein-coding
Descriptionhistatin-3PBbasic histidine-rich proteinhistatin-4histatin-5histatin-6histatin-7histatin-8histatin-9histidine-rich protein 3hstregulating synaptic membrane exocytosis protein 1RAB3-interacting protein 2rab-3-interacting protein 2rab3-interacting molecule 1
Modification date2018051920180523
UniProtAcc

P15516

Q86UR5

Ensembl transtripts involved in fusion geneENST00000526767, ENST00000530128, 
ENST00000381057, 		ENST00000491071, 
ENST00000348717, ENST00000518273, 
ENST00000522291, ENST00000517960, 
ENST00000521978, ENST00000520567, 
ENST00000264839, ENST00000401910, 
ENST00000523963, ENST00000425662, 
ENST00000517827, ENST00000538414, 
ENST00000431478, ENST00000414192, 
Fusion gene scores* DoF score3 X 3 X 1=94 X 4 X 2=32
# samples 34
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HTN3 [Title/Abstract] AND RIMS1 [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
TgeneRIMS1

GO:0065003

protein-containing complex assembly

11438518

TgeneRIMS1

GO:1903861

positive regulation of dendrite extension

23999003


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
ChiTaRS3.1BP334116HTN3chr4

70902151

+RIMS1chr6

73101663

+
* 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
3UTR-intronENST00000526767ENST00000491071HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000348717HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000518273HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000522291HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000517960HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000521978HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000520567HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000264839HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000401910HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000523963HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000425662HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000517827HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000538414HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000431478HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000526767ENST00000414192HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000491071HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000348717HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000518273HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000522291HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000517960HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000521978HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000520567HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000264839HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000401910HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000523963HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000425662HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000517827HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000538414HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000431478HTN3chr4

70902151

+RIMS1chr6

73101663

+
intron-intronENST00000530128ENST00000414192HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000491071HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000348717HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000518273HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000522291HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000517960HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000521978HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000520567HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000264839HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000401910HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000523963HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000425662HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000517827HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000538414HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000431478HTN3chr4

70902151

+RIMS1chr6

73101663

+
3UTR-intronENST00000381057ENST00000414192HTN3chr4

70902151

+RIMS1chr6

73101663

+

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FusionProtFeatures for HTN3_RIMS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HTN3

P15516

RIMS1

Q86UR5

Histatins are salivary proteins that are considered tobe major precursors of the protective proteinaceous structure ontooth surfaces (enamel pellicle). In addition, histatins exhibitantibacterial and antifungal activities. His3-(20-43)-peptide(histatin-5) is especially effective against C.albicans andC.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB)from P.gingivalis. In addition, His3-(20-43)-peptide is a potentinhibitor of metalloproteinases MMP2 and MMP9.{ECO:0000269|PubMed:11179305, ECO:0000269|PubMed:8945538}.

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 HTN3_RIMS1


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 HTN3_RIMS1


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 HTN3_RIMS1


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 HTN3_RIMS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRIMS1C0004352Autistic Disorder1CTD_human
TgeneRIMS1C1863634Cone-Rod Dystrophy 71CTD_human;UNIPROT