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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: 22172

FusionGeneSummary for MLLT3_TYRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MLLT3_TYRP1
Fusion gene ID: 22172
HgeneTgene
Gene symbol

MLLT3

TYRP1

Gene ID

4300

7306

Gene nameMLLT3, super elongation complex subunittyrosinase related protein 1
SynonymsAF9|YEATS3CAS2|CATB|GP75|OCA3|TRP|TRP1|TYRP|b-PROTEIN
Cytomap

9p21.3

9p23

Type of geneprotein-codingprotein-coding
Descriptionprotein 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); translo5,6-dihydroxyindole-2-carboxylic acid oxidaseDHICA oxidasecatalase Bglycoprotein 75melanoma antigen gp75
Modification date2018051920180523
UniProtAcc

P42568

P17643

Ensembl transtripts involved in fusion geneENST00000380338, ENST00000355930, 
ENST00000429426, ENST00000475957, 
ENST00000380321, 		ENST00000381137, 
ENST00000388918, ENST00000381136, 
ENST00000473504, 
Fusion gene scores* DoF score10 X 8 X 8=6405 X 1 X 3=15
# samples 165
** MAII scorelog2(16/640*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/15*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MLLT3 [Title/Abstract] AND TYRP1 [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
HgeneMLLT3

GO:0045893

positive regulation of transcription, DNA-templated

25417107|27105114

HgeneMLLT3

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
TCGARVLGGTCGA-VM-A8C8-01AMLLT3chr9

20456702

-TYRP1chr9

12693912

+
* 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
5CDS-5UTRENST00000380338ENST00000381137MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-5UTRENST00000380338ENST00000388918MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-intronENST00000380338ENST00000381136MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-intronENST00000380338ENST00000473504MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5UTR-5UTRENST00000355930ENST00000381137MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5UTR-5UTRENST00000355930ENST00000388918MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5UTR-intronENST00000355930ENST00000381136MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5UTR-intronENST00000355930ENST00000473504MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-5UTRENST00000429426ENST00000381137MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-5UTRENST00000429426ENST00000388918MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-intronENST00000429426ENST00000381136MLLT3chr9

20456702

-TYRP1chr9

12693912

+
5CDS-intronENST00000429426ENST00000473504MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-5UTRENST00000475957ENST00000381137MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-5UTRENST00000475957ENST00000388918MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-intronENST00000475957ENST00000381136MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-intronENST00000475957ENST00000473504MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-5UTRENST00000380321ENST00000381137MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-5UTRENST00000380321ENST00000388918MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-intronENST00000380321ENST00000381136MLLT3chr9

20456702

-TYRP1chr9

12693912

+
intron-intronENST00000380321ENST00000473504MLLT3chr9

20456702

-TYRP1chr9

12693912

+

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FusionProtFeatures for MLLT3_TYRP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MLLT3

P42568

TYRP1

P17643

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}. Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acidin the presence of bound Cu(2+) ions (PubMed:28661582). Mayregulate or influence the type of melanin synthesized(PubMed:22556244, PubMed:16704458). Also to a lower extent,capable of hydroxylating tyrosine and producing melanin (Bysimilarity). {ECO:0000250|UniProtKB:P07147,ECO:0000269|PubMed:28661582, ECO:0000305|PubMed:16704458,ECO:0000305|PubMed:22556244, ECO:0000305|PubMed:23504663}.

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 MLLT3_TYRP1


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 MLLT3_TYRP1


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
MLLT3APPBP2, MCM6, BCOR, RBM48, EEF1A1, PTN, LRIF1, DOT1L, SGK1, AFF4, AFF1, CDK9, AFF3, ACACA, SIRT1, CCNT1, NIPBL, EAF1, ELL3, PCGF1, MLLT1, EEF2, ELL, MLLT10, CCNT2, RNF2, KMT2A, CHD4, ELL2, PAF1, APP, CDK6, MED26, HSP90B1, EXOSC3, FAM9A, EDA, DENND2D, EPB41L3, XPO1, H3F3A, PIP4K2A, EPB41L2, CAMKV, MLLT6, SNX24, BPIFB1, MDK, PES1, EPB41L5, ARRB2TYRP1GIPC1, RAB11A, TF, RAB5A, HSPA4, RC3H1, ZNF431


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 MLLT3_TYRP1


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 MLLT3_TYRP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMLLT3C0005586Bipolar Disorder1PSYGENET
TgeneTYRP1C0342683ALBINISM, OCULOCUTANEOUS, TYPE III2ORPHANET;UNIPROT
TgeneTYRP1C0001418Adenocarcinoma1CTD_human
TgeneTYRP1C0024121Lung Neoplasms1CTD_human
TgeneTYRP1C0025202melanoma1CTD_human