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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: 32817

FusionGeneSummary for SCFD1_MLLT3

check button Fusion gene summary
Fusion gene informationFusion gene name: SCFD1_MLLT3
Fusion gene ID: 32817
HgeneTgene
Gene symbol

SCFD1

MLLT3

Gene ID

23256

4300

Gene namesec1 family domain containing 1MLLT3, super elongation complex subunit
SynonymsC14orf163|RA410|SLY1|SLY1P|STXBP1L2AF9|YEATS3
Cytomap

14q12

9p21.3

Type of geneprotein-codingprotein-coding
Descriptionsec1 family domain-containing protein 1syntaxin-binding protein 1-like 2vesicle transport-related proteinprotein AF-9ALL1-fused gene from chromosome 9 proteinYEATS domain-containing protein 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translo
Modification date2018051920180519
UniProtAcc

Q8WVM8

P42568

Ensembl transtripts involved in fusion geneENST00000458591, ENST00000421551, 
ENST00000544052, ENST00000541123, 
ENST00000396629, ENST00000554486, 
ENST00000380338, ENST00000355930, 
ENST00000429426, ENST00000475957, 
ENST00000380321, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 18 X 8=1296
# samples 522
** MAII scorelog2(5/8*10)=2.64385618977472log2(22/1296*10)=-2.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SCFD1 [Title/Abstract] AND MLLT3 [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
TgeneMLLT3

GO:0045893

positive regulation of transcription, DNA-templated

25417107|27105114

TgeneMLLT3

GO:0090090

negative regulation of canonical Wnt signaling pathway

19591803


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
ChiTaRS3.1BG217177SCFD1chr14

31091687

-MLLT3chr9

20549656

+
ChiTaRS3.1BG221177SCFD1chr14

31091687

-MLLT3chr9

20549656

+
ChiTaRS3.1BG195777SCFD1chr14

31091687

-MLLT3chr9

20549656

+
ChiTaRS3.1BG185378SCFD1chr14

31091687

-MLLT3chr9

20549656

+
* 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-intronENST00000458591ENST00000380338SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000458591ENST00000355930SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000458591ENST00000429426SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000458591ENST00000475957SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000458591ENST00000380321SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000421551ENST00000380338SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000421551ENST00000355930SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000421551ENST00000429426SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000421551ENST00000475957SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000421551ENST00000380321SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000544052ENST00000380338SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000544052ENST00000355930SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000544052ENST00000429426SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000544052ENST00000475957SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000544052ENST00000380321SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000541123ENST00000380338SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000541123ENST00000355930SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000541123ENST00000429426SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000541123ENST00000475957SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000541123ENST00000380321SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000396629ENST00000380338SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000396629ENST00000355930SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000396629ENST00000429426SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000396629ENST00000475957SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000396629ENST00000380321SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000554486ENST00000380338SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000554486ENST00000355930SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000554486ENST00000429426SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000554486ENST00000475957SCFD1chr14

31091687

-MLLT3chr9

20549656

+
intron-intronENST00000554486ENST00000380321SCFD1chr14

31091687

-MLLT3chr9

20549656

+

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FusionProtFeatures for SCFD1_MLLT3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SCFD1

Q8WVM8

MLLT3

P42568

Chromatin reader component of the super elongationcomplex (SEC), a complex required to increase the catalytic rateof RNA polymerase II transcription by suppressing transientpausing by the polymerase at multiple sites along the DNA(PubMed:20159561, PubMed:20471948, PubMed:25417107,PubMed:27105114, PubMed:27545619). Specifically recognizes andbinds acylated histone H3, with a marked preference for histone H3that is crotonylated (PubMed:25417107, PubMed:27105114,PubMed:27545619). Crotonylation marks active promoters andenhancers and confers resistance to transcriptional repressors(PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizesand binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and withslightly lower affinity histone H3 crotonylated at 'Lys-18'(H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3acetylated at 'Lys-9' (H3K9ac), but with lower affinity thancrotonylated histone H3 (PubMed:25417107, PubMed:27105114). In theSEC complex, MLLT3 is required to recruit the complex tocrotonylated histones (PubMed:27105114, PubMed:27545619).{ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948,ECO:0000269|PubMed:25417107, ECO:0000269|PubMed:27105114,ECO:0000269|PubMed:27545619}.

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 SCFD1_MLLT3


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 SCFD1_MLLT3


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 SCFD1_MLLT3


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 SCFD1_MLLT3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSCFD1C0002736Amyotrophic Lateral Sclerosis1CTD_human
TgeneMLLT3C0005586Bipolar Disorder1PSYGENET