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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: 32989

FusionGeneSummary for SDK1_SETD1A

check button Fusion gene summary
Fusion gene informationFusion gene name: SDK1_SETD1A
Fusion gene ID: 32989
HgeneTgene
Gene symbol

SDK1

SETD1A

Gene ID

221935

9739

Gene namesidekick cell adhesion molecule 1SET domain containing 1A
Synonyms-KMT2F|Set1|Set1A
Cytomap

7p22.2

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionprotein sidekick-1sidekick homolog 1, cell adhesion moleculehistone-lysine N-methyltransferase SETD1ASET domain-containing protein 1AhSET1Alysine N-methyltransferase 2Fset1/Ash2 histone methyltransferase complex subunit SET1
Modification date2018051920180519
UniProtAcc

Q7Z5N4

O15047

Ensembl transtripts involved in fusion geneENST00000404826, ENST00000389531, 
ENST00000466611, 
ENST00000262519, 
Fusion gene scores* DoF score6 X 5 X 4=1202 X 2 X 1=4
# samples 62
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: SDK1 [Title/Abstract] AND SETD1A [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
TgeneSETD1A

GO:1902036

regulation of hematopoietic stem cell differentiation

27141965

TgeneSETD1A

GO:1902275

regulation of chromatin organization

27141965


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
ChiTaRS3.1AW898510SDK1chr7

4194780

-SETD1Achr16

30975526

+
* 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
intron-3CDSENST00000404826ENST00000262519SDK1chr7

4194780

-SETD1Achr16

30975526

+
intron-3CDSENST00000389531ENST00000262519SDK1chr7

4194780

-SETD1Achr16

30975526

+
intron-3CDSENST00000466611ENST00000262519SDK1chr7

4194780

-SETD1Achr16

30975526

+

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FusionProtFeatures for SDK1_SETD1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SDK1

Q7Z5N4

SETD1A

O15047

Adhesion molecule that promotes lamina-specific synapticconnections in the retina. Expressed in specific subsets ofinterneurons and retinal ganglion cells (RGCs) and promotessynaptic connectivity via homophilic interactions.{ECO:0000250|UniProtKB:Q8AV58}. Histone methyltransferase that specifically methylates'Lys-4' of histone H3, when part of the SET1 histonemethyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylationrepresents a specific tag for epigenetic transcriptionalactivation. The non-overlapping localization with SETD1B suggeststhat SETD1A and SETD1B make non-redundant contributions to theepigenetic control of chromatin structure and gene expression.{ECO:0000269|PubMed:12670868}.

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 SDK1_SETD1A


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 SDK1_SETD1A


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 SDK1_SETD1A


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 SDK1_SETD1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSETD1AC0036341Schizophrenia1PSYGENET