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Fusion gene ID: 16519 |
FusionGeneSummary for HNMT_SPOPL |
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Fusion gene information | Fusion gene name: HNMT_SPOPL | Fusion gene ID: 16519 | Hgene | Tgene | Gene symbol | HNMT | SPOPL | Gene ID | 3176 | 339745 |
Gene name | histamine N-methyltransferase | speckle type BTB/POZ protein like | |
Synonyms | HMT|HNMT-S1|HNMT-S2|MRT51 | BTBD33 | |
Cytomap | 2q22.1 | 2q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | histamine N-methyltransferase | speckle-type POZ protein-likeHIB homolog 2roadkill homolog 2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P50135 | Q6IQ16 | |
Ensembl transtripts involved in fusion gene | ENST00000410115, ENST00000329366, ENST00000280097, ENST00000280096, ENST00000485653, | ENST00000280098, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | HNMT | GO:0001695 | histamine catabolic process | 26206890 |
Hgene | HNMT | GO:0032259 | methylation | 26206890 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | READ | TCGA-EI-6508-01A | HNMT | chr2 | 138727787 | + | SPOPL | chr2 | 139316592 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000410115 | ENST00000280098 | HNMT | chr2 | 138727787 | + | SPOPL | chr2 | 139316592 | + |
Frame-shift | ENST00000329366 | ENST00000280098 | HNMT | chr2 | 138727787 | + | SPOPL | chr2 | 139316592 | + |
Frame-shift | ENST00000280097 | ENST00000280098 | HNMT | chr2 | 138727787 | + | SPOPL | chr2 | 139316592 | + |
intron-3CDS | ENST00000280096 | ENST00000280098 | HNMT | chr2 | 138727787 | + | SPOPL | chr2 | 139316592 | + |
intron-3CDS | ENST00000485653 | ENST00000280098 | HNMT | chr2 | 138727787 | + | SPOPL | chr2 | 139316592 | + |
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FusionProtFeatures for HNMT_SPOPL |
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Hgene | Tgene |
HNMT | SPOPL |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for HNMT_SPOPL |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
HNMT | TERF1, TINF2, POT1, DSP, CAMK2D, CLK1 | SPOPL | KPNA5, EPS15 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HNMT_SPOPL |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | HNMT | P50135 | DB00613 | Amodiaquine | Histamine N-methyltransferase | small molecule | approved|investigational |
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RelatedDiseases for HNMT_SPOPL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HNMT | C0001973 | Alcoholic Intoxication, Chronic | 3 | PSYGENET |
Hgene | HNMT | C0004096 | Asthma | 1 | CTD_human |
Hgene | HNMT | C0013182 | Drug Allergy | 1 | CTD_human |
Hgene | HNMT | C0035455 | Rhinitis | 1 | CTD_human |
Hgene | HNMT | C0042109 | Urticaria | 1 | CTD_human |
Hgene | HNMT | C4225220 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 | 1 | UNIPROT |