![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 24912 |
FusionGeneSummary for NSD1_TBC1D1 |
![]() |
Fusion gene information | Fusion gene name: NSD1_TBC1D1 | Fusion gene ID: 24912 | Hgene | Tgene | Gene symbol | NSD1 | TBC1D1 | Gene ID | 64324 | 23216 |
Gene name | nuclear receptor binding SET domain protein 1 | TBC1 domain family member 1 | |
Synonyms | ARA267|KMT3B|SOTOS|SOTOS1|STO | TBC|TBC1 | |
Cytomap | 5q35.3 | 4p14 | |
Type of gene | protein-coding | protein-coding | |
Description | histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificH3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-as | TBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96L73 | Q86TI0 | |
Ensembl transtripts involved in fusion gene | ENST00000354179, ENST00000439151, ENST00000347982, ENST00000361032, ENST00000511258, | ENST00000508802, ENST00000261439, ENST00000402522, ENST00000407365, | |
Fusion gene scores | * DoF score | 17 X 10 X 13=2210 | 8 X 7 X 4=224 |
# samples | 20 | 9 | |
** MAII score | log2(20/2210*10)=-3.46597446450407 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NSD1 [Title/Abstract] AND TBC1D1 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NSD1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11509567 |
![]() (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 |
ChiTaRS3.1 | BF369612 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - | ||
ChiTaRS3.1 | BF369639 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
* 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 |
5CDS-intron | ENST00000354179 | ENST00000508802 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000354179 | ENST00000261439 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000354179 | ENST00000402522 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000354179 | ENST00000407365 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000439151 | ENST00000508802 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000439151 | ENST00000261439 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000439151 | ENST00000402522 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000439151 | ENST00000407365 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000347982 | ENST00000508802 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000347982 | ENST00000261439 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000347982 | ENST00000402522 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000347982 | ENST00000407365 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000361032 | ENST00000508802 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000361032 | ENST00000261439 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000361032 | ENST00000402522 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
5CDS-intron | ENST00000361032 | ENST00000407365 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
intron-intron | ENST00000511258 | ENST00000508802 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
intron-intron | ENST00000511258 | ENST00000261439 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
intron-intron | ENST00000511258 | ENST00000402522 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
intron-intron | ENST00000511258 | ENST00000407365 | NSD1 | chr5 | 176638362 | - | TBC1D1 | chr4 | 38001722 | - |
Top |
FusionProtFeatures for NSD1_TBC1D1 |
![]() |
Hgene | Tgene |
NSD1 | TBC1D1 |
Histone methyltransferase. Preferentially methylates'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro).Transcriptional intermediary factor capable of both negatively orpositively influencing transcription, depending on the cellularcontext. {ECO:0000269|PubMed:21196496}. | May act as a GTPase-activating protein for Rab familyprotein(s). May play a role in the cell cycle and differentiationof various tissues. Involved in the trafficking and translocationof GLUT4-containing vesicles and insulin-stimulated glucose uptakeinto cells (By similarity). {ECO:0000250}. |
![]() * 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 |
Top |
FusionGeneSequence for NSD1_TBC1D1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for NSD1_TBC1D1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for NSD1_TBC1D1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for NSD1_TBC1D1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NSD1 | C0175695 | Sotos' syndrome | 14 | CTD_human;ORPHANET;UNIPROT |
Hgene | NSD1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | NSD1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | NSD1 | C0265210 | Weaver syndrome | 1 | CTD_human;ORPHANET |
Hgene | NSD1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | TBC1D1 | C0028754 | Obesity | 3 | CTD_human |