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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: 29993

FusionGeneSummary for RAB3D_MLLT1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB3D_MLLT1
Fusion gene ID: 29993
HgeneTgene
Gene symbol

RAB3D

MLLT1

Gene ID

9545

4298

Gene nameRAB3D, member RAS oncogene familyMLLT1, super elongation complex subunit
SynonymsD2-2|GOV|RAB16|RAD3DENL|LTG19|YEATS1
Cytomap

19p13.2

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-3DRab3D upregulated with myeloid differentiationglioblastoma overexpressedprotein ENLCTC-503J8.6ENL/MLL fusionMLL/ENL fusion proteinMLLT1/MLL fusionYEATS domain-containing protein 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homol
Modification date2018052620180519
UniProtAcc

O95716

Q03111

Ensembl transtripts involved in fusion geneENST00000222120, ENST00000589655, 
ENST00000252674, ENST00000585588, 
Fusion gene scores* DoF score4 X 2 X 4=3210 X 20 X 6=1200
# samples 425
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(25/1200*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB3D [Title/Abstract] AND MLLT1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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
HgeneRAB3D

GO:0045453

bone resorption

21262767


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
TCGALDSTADTCGA-CD-5800-01ARAB3Dchr19

11446123

-MLLT1chr19

6227113

-
* 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
In-frameENST00000222120ENST00000252674RAB3Dchr19

11446123

-MLLT1chr19

6227113

-
5CDS-intronENST00000222120ENST00000585588RAB3Dchr19

11446123

-MLLT1chr19

6227113

-
Frame-shitENST00000589655ENST00000252674RAB3Dchr19

11446123

-MLLT1chr19

6227113

-
5CDS-intronENST00000589655ENST00000585588RAB3Dchr19

11446123

-MLLT1chr19

6227113

-

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FusionProtFeatures for RAB3D_MLLT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAB3D

O95716

MLLT1

Q03111

Protein transport. Probably involved in regulatedexocytosis (By similarity). {ECO:0000250}. Component of the super elongation complex (SEC), acomplex required to increase the catalytic rate of RNA polymeraseII transcription by suppressing transient pausing by thepolymerase at multiple sites along the DNA.{ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948}.

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
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000222120-4551_59157220MotifEffector region
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000589655-4551_59157220MotifEffector region
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000222120-45135_138157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000222120-4529_37157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000222120-4548_54157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000222120-4577_81157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000589655-45135_138157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000589655-4529_37157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000589655-4548_54157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000589655-4577_81157220Nucleotide bindingGTP
TgeneMLLT1chr19:11446123chr19:6227113ENST00000252674-312272_280140560Compositional biasNote=Poly-Pro
TgeneMLLT1chr19:11446123chr19:6227113ENST00000252674-312319_325140560Compositional biasNote=Poly-Ser
TgeneMLLT1chr19:11446123chr19:6227113ENST00000252674-312374_389140560Compositional biasNote=Poly-Ser
TgeneMLLT1chr19:11446123chr19:6227113ENST00000252674-312457_460140560Compositional biasNote=Poly-Pro
TgeneMLLT1chr19:11446123chr19:6227113ENST00000252674-312463_466140560Compositional biasNote=Poly-Pro

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000222120-45165_167157220Nucleotide bindingGTP
HgeneRAB3Dchr19:11446123chr19:6227113ENST00000589655-45165_167157220Nucleotide bindingGTP
TgeneMLLT1chr19:11446123chr19:6227113ENST00000252674-3128_112140560DomainYEATS


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FusionGeneSequence for RAB3D_MLLT1


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.
>In-frame_RAB3D_ENST00000222120_chr19_11446123_-_MLLT1_ENST00000252674_chr19_6227113_-_420aa
VMVMPEGADTVSRPSPDYPMLPTIPLSAFSDPKKTKPSHGSKDANKESSKTSKPHKVTKEHRERPRKDSESKSSSKELEREQAKSSKDTS
RKLGEGRLPKEEKAPPPKAAFKEPKMALKETKLESTSPKGGPPPPPPPPPRASSKRPATADSPKPSAKKQKKSSSKGSRSAPGTSPRTSS
SSSFSDKKPAKDKSSTRGEKVKAESEPREAKKALEVEESNSEDEASFKSESAQSSPSNSSSSSDSSSDSDFEPSQNHSQGPLRSMVEDLQ
SEESDEDDSSSGEEAAGKTNPGRDSRLSFSDSESDNSADSSLPSREPPPPQKPPPPNSKVSGRRSPESCSKPEKILKKGTYDKAYTDELV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RAB3D_ENST00000222120_chr19_11446123_-_MLLT1_ENST00000252674_chr19_6227113_-_1260nt
GTGATGGTAATGCCCGAAGGAGCAGACACGGTGTCCAGGCCCAGTCCCGACTACCCCATGTTACCCACAATTCCACTCTCTGCCTTCTCT
GACCCCAAGAAGACCAAACCATCCCACGGCTCCAAGGACGCCAACAAGGAGAGCAGCAAGACCTCCAAGCCACACAAGGTGACCAAGGAG
CACCGGGAGCGGCCCCGCAAAGACTCCGAGAGCAAGAGCTCCTCCAAGGAGCTGGAGCGTGAGCAGGCCAAAAGCTCCAAGGACACCTCG
CGGAAGCTGGGCGAGGGCCGGCTGCCCAAGGAGGAGAAGGCGCCACCGCCCAAGGCTGCCTTCAAGGAACCCAAGATGGCCCTGAAAGAG
ACCAAGCTGGAAAGCACGTCCCCCAAGGGTGGGCCCCCACCCCCACCCCCACCCCCACCCCGGGCTTCCAGCAAGCGGCCGGCCACCGCC
GACTCGCCAAAGCCCAGCGCCAAGAAGCAGAAGAAGAGCAGCTCGAAGGGGTCCCGGAGTGCTCCAGGCACCTCGCCCCGCACCTCCTCC
TCCTCCTCCTTCTCGGACAAGAAGCCGGCCAAGGACAAGAGCAGCACCAGAGGGGAGAAGGTGAAGGCCGAGAGTGAGCCCCGGGAGGCC
AAAAAGGCCCTGGAGGTGGAGGAGTCCAACTCAGAGGACGAGGCCTCCTTCAAGTCCGAGTCTGCCCAGTCAAGCCCGTCCAACTCCAGC
TCCAGCTCAGACTCCAGCTCAGACTCAGACTTCGAGCCATCCCAGAACCACAGCCAAGGACCCCTGCGCTCCATGGTGGAGGACCTGCAG
TCCGAGGAGTCCGACGAGGACGACTCTTCGTCAGGCGAGGAGGCTGCCGGCAAGACCAACCCGGGGAGGGACTCCAGGTTGAGCTTCAGC
GACAGCGAGAGTGACAACAGCGCCGACTCCTCCCTGCCCAGCCGTGAGCCCCCACCCCCCCAGAAGCCACCCCCGCCCAACAGCAAGGTG
TCAGGCCGGAGGAGCCCCGAGTCCTGCAGCAAGCCTGAGAAGATCCTCAAGAAGGGCACCTACGACAAGGCCTACACGGATGAGCTGGTG
GAGCTACACCGGAGGCTGATGGCGCTGCGGGAGCGCAACGTGCTGCAGCAGATTGTGAATCTGATCGAGGAGACTGGCCACTTCAATGTC
ACCAACACCACCTTCGACTTCGACCTCTTCTCCCTGGACGAGACCACCGTGCGCAAACTGCAGAGCTGCCTGGAGGCCGTGGCCACATGA


* Fusion transcript sequences (Full-length transcript).
>In-frame_RAB3D_ENST00000222120_chr19_11446123_-_MLLT1_ENST00000252674_chr19_6227113_-_2080nt
CCTTCCTCCGCCTTCTGGGCGGAGCCCGCGCGGGATCCGGGTGGCTGCAGGCTGCTGGCTTCTGCGGCTGCGGGGTCGGGGTCGCGGCCA
GGGCCAAGCCGCAGCGAGTTCACAGGCGGAACCCCTGCAGGCGGCGCCCCCTACGCGAGGTCACCCCTGGGAAGGAGCGCAGCCCACCCG
GCCCCTCCGCATCCGAGCAGGACGCCCGTCTCCTCTCCCTGAGGATTTCAGGTCTCCCTGTCCCAGGAGGCTTGTGCCAAGATGGCATCA
GCTGGAGACACCCAGGCAGGCCCACGGGATGCAGCAGATCAGAACTTCGACTATATGTTCAAACTGCTACTGATAGGCAACAGCAGTGTG
GGCAAGACTTCCTTCCTGTTCCGATACGCGGACGACTCCTTCACTCCCGCCTTCGTCAGTACTGTGGGCATCGATTTCAAGGTCAAGACC
GTCTACCGCCATGACAAGAGGATCAAGCTGCAGATCTGGGACACAGCGGGCCAGGAGCGCTACCGCACCATCACCACGGCCTACTACCGG
GGAGCCATGGGCTTCCTGCTCATGTATGACATCGCCAATCAGGAATCCTTTGCCGCTGTGCAGGACTGGGCCACGCAAATCAAGACCTAC
TCCTGGGACAACGCCCAGGTCATCCTGGTGGGGAACAAGTGTGACCTGGAGGACGAACGTGTTGTGCCTGCTGAGGATGGCCGGAGGCTC
GCCGACGACCTTGGTGATGGTAATGCCCGAAGGAGCAGACACGGTGTCCAGGCCCAGTCCCGACTACCCCATGTTACCCACAATTCCACT
CTCTGCCTTCTCTGACCCCAAGAAGACCAAACCATCCCACGGCTCCAAGGACGCCAACAAGGAGAGCAGCAAGACCTCCAAGCCACACAA
GGTGACCAAGGAGCACCGGGAGCGGCCCCGCAAAGACTCCGAGAGCAAGAGCTCCTCCAAGGAGCTGGAGCGTGAGCAGGCCAAAAGCTC
CAAGGACACCTCGCGGAAGCTGGGCGAGGGCCGGCTGCCCAAGGAGGAGAAGGCGCCACCGCCCAAGGCTGCCTTCAAGGAACCCAAGAT
GGCCCTGAAAGAGACCAAGCTGGAAAGCACGTCCCCCAAGGGTGGGCCCCCACCCCCACCCCCACCCCCACCCCGGGCTTCCAGCAAGCG
GCCGGCCACCGCCGACTCGCCAAAGCCCAGCGCCAAGAAGCAGAAGAAGAGCAGCTCGAAGGGGTCCCGGAGTGCTCCAGGCACCTCGCC
CCGCACCTCCTCCTCCTCCTCCTTCTCGGACAAGAAGCCGGCCAAGGACAAGAGCAGCACCAGAGGGGAGAAGGTGAAGGCCGAGAGTGA
GCCCCGGGAGGCCAAAAAGGCCCTGGAGGTGGAGGAGTCCAACTCAGAGGACGAGGCCTCCTTCAAGTCCGAGTCTGCCCAGTCAAGCCC
GTCCAACTCCAGCTCCAGCTCAGACTCCAGCTCAGACTCAGACTTCGAGCCATCCCAGAACCACAGCCAAGGACCCCTGCGCTCCATGGT
GGAGGACCTGCAGTCCGAGGAGTCCGACGAGGACGACTCTTCGTCAGGCGAGGAGGCTGCCGGCAAGACCAACCCGGGGAGGGACTCCAG
GTTGAGCTTCAGCGACAGCGAGAGTGACAACAGCGCCGACTCCTCCCTGCCCAGCCGTGAGCCCCCACCCCCCCAGAAGCCACCCCCGCC
CAACAGCAAGGTGTCAGGCCGGAGGAGCCCCGAGTCCTGCAGCAAGCCTGAGAAGATCCTCAAGAAGGGCACCTACGACAAGGCCTACAC
GGATGAGCTGGTGGAGCTACACCGGAGGCTGATGGCGCTGCGGGAGCGCAACGTGCTGCAGCAGATTGTGAATCTGATCGAGGAGACTGG
CCACTTCAATGTCACCAACACCACCTTCGACTTCGACCTCTTCTCCCTGGACGAGACCACCGTGCGCAAACTGCAGAGCTGCCTGGAGGC
CGTGGCCACATGACCCTGGGCCGCGTGCCGGGCCCCCACCGCCGGGGTCCTGGGAGGCTGCAGCCAGGCCTCGCCTGCCCTCCTCTCCCG


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FusionGenePPI for RAB3D_MLLT1


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
RAB3DATG16L1, APP, MAST1, CYP2C9, CEP55, AP1M2, RNF32, CYLDMLLT1CBX8, AFF1, CDK9, WDR5, DOT1L, MLLT3, RFX5, AFF4, CSNK2A1, BCOR, RFXAP, MLLT10, ACACA, CHD1, ELL, SIRT1, MLLT6, CCNT1, KMT2A, BRD4, ELL2, PAF1, POLR2A, MED26, HIST3H3, HIST1H1B, EAF1, ELL3, RNF2, RPL12, MRPL12, HIST2H2AC, H2AFX, HIST2H2BE, HIST4H4, BMI1, PIP4K2A, EPB41L2, CAMKV, BPIFB1, YAF2, RYBP, DENND2D, ARRB2, TRIM25


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 RAB3D_MLLT1


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 RAB3D_MLLT1


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