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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: 16519

FusionGeneSummary for HNMT_SPOPL

check button Fusion gene summary
Fusion gene informationFusion gene name: HNMT_SPOPL
Fusion gene ID: 16519
HgeneTgene
Gene symbol

HNMT

SPOPL

Gene ID

3176

339745

Gene namehistamine N-methyltransferasespeckle type BTB/POZ protein like
SynonymsHMT|HNMT-S1|HNMT-S2|MRT51BTBD33
Cytomap

2q22.1

2q22.1

Type of geneprotein-codingprotein-coding
Descriptionhistamine N-methyltransferasespeckle-type POZ protein-likeHIB homolog 2roadkill homolog 2
Modification date2018052320180523
UniProtAcc

P50135

Q6IQ16

Ensembl transtripts involved in fusion geneENST00000410115, ENST00000329366, 
ENST00000280097, ENST00000280096, 
ENST00000485653, 
ENST00000280098, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: HNMT [Title/Abstract] AND SPOPL [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
HgeneHNMT

GO:0001695

histamine catabolic process

26206890

HgeneHNMT

GO:0032259

methylation

26206890


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
TCGALDREADTCGA-EI-6508-01AHNMTchr2

138727787

+SPOPLchr2

139316592

+
* 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
Frame-shiftENST00000410115ENST00000280098HNMTchr2

138727787

+SPOPLchr2

139316592

+
Frame-shiftENST00000329366ENST00000280098HNMTchr2

138727787

+SPOPLchr2

139316592

+
Frame-shiftENST00000280097ENST00000280098HNMTchr2

138727787

+SPOPLchr2

139316592

+
intron-3CDSENST00000280096ENST00000280098HNMTchr2

138727787

+SPOPLchr2

139316592

+
intron-3CDSENST00000485653ENST00000280098HNMTchr2

138727787

+SPOPLchr2

139316592

+

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FusionProtFeatures for HNMT_SPOPL


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

P50135

SPOPL

Q6IQ16

Inactivates histamine by N-methylation. Plays animportant role in degrading histamine and in regulating the airwayresponse to histamine. {ECO:0000269|PubMed:26206890}. Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex that mediates the ubiquitinationand subsequent proteasomal degradation of target proteins, butwith relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes containing homodimericSPOPL or the heterodimer formed by SPOP and SPOPL are lessefficient than ubiquitin ligase complexes containing only SPOP.May function to down-regulate the activity of cullin-RING-basedBCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes thatcontain SPOP. {ECO:0000269|PubMed:22632832}.

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 HNMT_SPOPL


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 HNMT_SPOPL


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
HNMTTERF1, TINF2, POT1, DSP, CAMK2D, CLK1SPOPLKPNA5, EPS15


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 HNMT_SPOPL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHNMTP50135DB00613AmodiaquineHistamine N-methyltransferasesmall moleculeapproved|investigational

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RelatedDiseases for HNMT_SPOPL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHNMTC0001973Alcoholic Intoxication, Chronic3PSYGENET
HgeneHNMTC0004096Asthma1CTD_human
HgeneHNMTC0013182Drug Allergy1CTD_human
HgeneHNMTC0035455Rhinitis1CTD_human
HgeneHNMTC0042109Urticaria1CTD_human
HgeneHNMTC4225220MENTAL RETARDATION, AUTOSOMAL RECESSIVE 511UNIPROT