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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: 30578

FusionGeneSummary for RASSF6_LEMD3

check button Fusion gene summary
Fusion gene informationFusion gene name: RASSF6_LEMD3
Fusion gene ID: 30578
HgeneTgene
Gene symbol

RASSF6

LEMD3

Gene ID

166824

23592

Gene nameRas association domain family member 6LEM domain containing 3
Synonyms-MAN1
Cytomap

4q13.3

12q14.3

Type of geneprotein-codingprotein-coding
Descriptionras association domain-containing protein 6Ras association (RalGDS/AF-6) domain family 6Ras association (RalGDS/AF-6) domain family member 6putative RAS binding proteininner nuclear membrane protein Man1LEM domain-containing protein 3LEMD3/MKX fusionintegral inner nuclear membrane protein
Modification date2018051920180523
UniProtAcc

Q6ZTQ3

Q9Y2U8

Ensembl transtripts involved in fusion geneENST00000307439, ENST00000342081, 
ENST00000395777, ENST00000335049, 
ENST00000512591, 
ENST00000308330, 
ENST00000541171, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 4=36
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RASSF6 [Title/Abstract] AND LEMD3 [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
TgeneLEMD3

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

15647271

TgeneLEMD3

GO:0030514

negative regulation of BMP signaling pathway

15647271

TgeneLEMD3

GO:0032926

negative regulation of activin receptor signaling pathway

15647271


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
TCGARVBRCATCGA-3C-AAAU-01ARASSF6chr4

74459168

-LEMD3chr12

65639449

+
* 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
Frame-shiftENST00000307439ENST00000308330RASSF6chr4

74459168

-LEMD3chr12

65639449

+
5CDS-intronENST00000307439ENST00000541171RASSF6chr4

74459168

-LEMD3chr12

65639449

+
In-frameENST00000342081ENST00000308330RASSF6chr4

74459168

-LEMD3chr12

65639449

+
5CDS-intronENST00000342081ENST00000541171RASSF6chr4

74459168

-LEMD3chr12

65639449

+
Frame-shiftENST00000395777ENST00000308330RASSF6chr4

74459168

-LEMD3chr12

65639449

+
5CDS-intronENST00000395777ENST00000541171RASSF6chr4

74459168

-LEMD3chr12

65639449

+
In-frameENST00000335049ENST00000308330RASSF6chr4

74459168

-LEMD3chr12

65639449

+
5CDS-intronENST00000335049ENST00000541171RASSF6chr4

74459168

-LEMD3chr12

65639449

+
intron-3CDSENST00000512591ENST00000308330RASSF6chr4

74459168

-LEMD3chr12

65639449

+
intron-intronENST00000512591ENST00000541171RASSF6chr4

74459168

-LEMD3chr12

65639449

+

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FusionProtFeatures for RASSF6_LEMD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RASSF6

Q6ZTQ3

LEMD3

Q9Y2U8

Involved in the induction of apoptosis, through bothcaspase-dependent and caspase-independent pathways. May act as aRas effector protein. May suppress the serum-induced basal levelsof NF-kappa-B (By similarity). {ECO:0000250,ECO:0000269|PubMed:17367779}. Can function as a specific repressor of TGF-beta,activin, and BMP signaling through its interaction with the R-SMADproteins. Antagonizes TGF-beta-induced cell proliferation arrest.{ECO:0000269|PubMed:15601644, ECO:0000269|PubMed:15647271}.

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 RASSF6_LEMD3


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_RASSF6_ENST00000342081_chr4_74459168_-_LEMD3_ENST00000308330_chr12_65639449_+_244aa
MLWEETGAAPAPARASDLPYRISSDHLKKEEKMTMMAHQYPSWIFINEKTFITREQLNSLLKTYNIFYENQKNLHILYGETEDGKLIVEG
MLDIFWGVKRPIQLKIQDEKPFSSFTSMKSSDVFSSKGEIGDQWHLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLSPEYAGKAF

>In-frame_RASSF6_ENST00000335049_chr4_74459168_-_LEMD3_ENST00000308330_chr12_65639449_+_200aa
MLWEETGAAPAPARASDLPYRIHFLSSGLILVTRQLTEDGKLIVEGMLDIFWGVKRPIQLKIQDEKPFSSFTSMKSSDVFSSKGEIGDQW
HLAIQEAILEKCSDNDGIVHIAVDKNSREGCVYVKCLSPEYAGKAFKALHGSWFDGKLVTVKYLRLDRYHHRFPQALTSNTPLKPSNKHM


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RASSF6_ENST00000342081_chr4_74459168_-_LEMD3_ENST00000308330_chr12_65639449_+_732nt
ATGCTCTGGGAGGAGACAGGCGCCGCCCCTGCGCCCGCGCGGGCCTCGGACCTCCCCTACAGGATATCCTCAGACCATCTCAAAAAGGAG
GAAAAGATGACTATGATGGCTCACCAGTACCCCTCTTGGATCTTCATTAATGAGAAGACATTCATAACCAGGGAACAACTTAATTCTTTA
TTGAAGACCTATAACATTTTTTATGAGAACCAGAAAAATCTGCATATTTTATATGGAGAGACTGAAGATGGCAAACTAATTGTTGAAGGA
ATGCTGGACATTTTCTGGGGAGTAAAACGACCTATACAGCTAAAAATACAAGATGAGAAGCCATTCTCTTCTTTTACTAGTATGAAGTCA
TCAGACGTCTTCTCCAGCAAAGGGGAAATAGGGGATCAGTGGCATTTGGCAATTCAAGAAGCAATTTTAGAAAAATGCAGTGATAATGAT
GGCATTGTTCACATTGCAGTAGACAAAAATTCACGTGAGGGTTGTGTATATGTTAAATGTCTGTCTCCAGAATATGCTGGAAAGGCTTTT
AAAGCATTGCATGGCTCTTGGTTTGATGGGAAATTGGTTACAGTAAAATATTTACGACTAGATAGATACCACCATCGCTTTCCCCAGGCT
CTCACTTCCAACACTCCATTGAAGCCATCAAATAAACATATGAACTCCATGTCTCATCTTCGTCTTCGGACTGGCCTAACCAATTCTCAA

>In-frame_RASSF6_ENST00000335049_chr4_74459168_-_LEMD3_ENST00000308330_chr12_65639449_+_600nt
ATGCTCTGGGAGGAGACAGGCGCCGCCCCTGCGCCCGCGCGGGCCTCGGACCTCCCCTACAGAATTCACTTCCTGTCCTCTGGCCTCATT
CTGGTCACAAGGCAACTGACTGAAGATGGCAAACTAATTGTTGAAGGAATGCTGGACATTTTCTGGGGAGTAAAACGACCTATACAGCTA
AAAATACAAGATGAGAAGCCATTCTCTTCTTTTACTAGTATGAAGTCATCAGACGTCTTCTCCAGCAAAGGGGAAATAGGGGATCAGTGG
CATTTGGCAATTCAAGAAGCAATTTTAGAAAAATGCAGTGATAATGATGGCATTGTTCACATTGCAGTAGACAAAAATTCACGTGAGGGT
TGTGTATATGTTAAATGTCTGTCTCCAGAATATGCTGGAAAGGCTTTTAAAGCATTGCATGGCTCTTGGTTTGATGGGAAATTGGTTACA
GTAAAATATTTACGACTAGATAGATACCACCATCGCTTTCCCCAGGCTCTCACTTCCAACACTCCATTGAAGCCATCAAATAAACATATG


* Fusion transcript sequences (Full-length transcript).
>In-frame_RASSF6_ENST00000342081_chr4_74459168_-_LEMD3_ENST00000308330_chr12_65639449_+_2865nt
ACTGAGGCACAGGGAGTGGCTCAGGTTTCTTGACACTTCCCTGCTGTGGCGAAAAGGAGAAATAATTAACAGCTCCTGGGGCTCCAGGAT
CGCTGATCGCGTCGGGGGCACTGCAAGCGCCCAGCTGAGCCATGCTCTGGGAGGAGACAGGCGCCGCCCCTGCGCCCGCGCGGGCCTCGG
ACCTCCCCTACAGGATATCCTCAGACCATCTCAAAAAGGAGGAAAAGATGACTATGATGGCTCACCAGTACCCCTCTTGGATCTTCATTA
ATGAGAAGACATTCATAACCAGGGAACAACTTAATTCTTTATTGAAGACCTATAACATTTTTTATGAGAACCAGAAAAATCTGCATATTT
TATATGGAGAGACTGAAGATGGCAAACTAATTGTTGAAGGAATGCTGGACATTTTCTGGGGAGTAAAACGACCTATACAGCTAAAAATAC
AAGATGAGAAGCCATTCTCTTCTTTTACTAGTATGAAGTCATCAGACGTCTTCTCCAGCAAAGGGGAAATAGGGGATCAGTGGCATTTGG
CAATTCAAGAAGCAATTTTAGAAAAATGCAGTGATAATGATGGCATTGTTCACATTGCAGTAGACAAAAATTCACGTGAGGGTTGTGTAT
ATGTTAAATGTCTGTCTCCAGAATATGCTGGAAAGGCTTTTAAAGCATTGCATGGCTCTTGGTTTGATGGGAAATTGGTTACAGTAAAAT
ATTTACGACTAGATAGATACCACCATCGCTTTCCCCAGGCTCTCACTTCCAACACTCCATTGAAGCCATCAAATAAACATATGAACTCCA
TGTCTCATCTTCGTCTTCGGACTGGCCTAACCAATTCTCAAGGAAGTTCCTGAAAAGATTTTCTTCCATTTCTAAGACTGTTATTTACAA
TAGGAAAATTCCTGTTTGGCTTTTTGTCTTCCTTTTTAAATGCTTTTTGTATGTAATATTTTTATTGATGAATACATCTCTGAACGTTCC
AGAAGTCTTAAGGTTCCAAAGGGATTTAGCAGTGAGGCAGCAATGCTGAGTAGGTAGGATAATTATTTCATTCAGTTTTTGGAGCTCAGT
TAAGCCAATACATTTAAAGTTTTGCATGAGGAACACTGACTTTATTAAGCATTTTCAGATGTGGTGGTTGTATTTTTGCCCCAAGAAGTG
TTTGGATAACCACACAAAAGCATGATGAAAAGGCTTCTTGTAGTCCCATAATTTCTTGTGAACTAATGTTGTGAATTTTTGTATACAGTC
ACCTGCATAGTTCCTACAGGCTAATGTGGTAAAACTGTTGATTTCCCAATTTAACCTTAGGTTTCTGTTGCTTATAAGCGATTCATTTGC
TACGGCTGGAATATGGGAAAATTAATTTGGGCTTAGTGGTTACAAATATGTGTAAGTGGATGTATATGTACTTAAACTGGCTTTGTATAT
ATGTATAAATGCTGGTGGTGGTGAAAGTAGTCTTGTTTTATGAGGATGTCTGCATTAAAGCAGTAAAATAAGCTTTCCATTTTATTCATA
ATCTAATGTGTGTGTATATATGTATGTGTGTATGTGTGTGTATATATAGATGTATATATATACACACACAGAGATATATACATATGGCTG
TACTTTTGCATAGATCAAACAGCCAAACACCTGGAAGTATTAGATACAAGTTTAAAATATCTTTTATAGGTTTTATATAAAAATGTCTGA
GTATGATTTTGTGTGAAAGTTCTGATACCAGTTGTAATAGAGTCAAATTTATGTGAGCAATAAAGAAGAAATTGGCAGATATTGGAAAAA
TATTTTGTGAAAAGCTGTATTTATTATAAATACTAGGGCCATGACATAGTACCATTGGGGTTAAGTCATTTTCCCAATCTATTTATAATT
TAATGATATGTTAGTGCCTCTGTTATATGTCAAGTTTAAAGCAGGGCACATTGTTGCAGCAAAATGTGTATTTGACAAATTATACTTGCA
ATTTTGGGTCATGAAAGTTTGCAATATAGTAAATGCACGATTGACTGTTGCTTTGTGCCTCAGTATTTAATTTGTTTCAGTAAACTTACT
TTATTACTGTTTATGATTTCAGATAAAAATAGTTGCTGAGTAAATTTTACTTGTAATCTACAATTGGCTTTTTAAAAATAACCTGTTGAT
ATATAATTGTCAGTCCAAATGAATATGTGAAACAGCTGGAATTGTACAAATTTTGGTTGTATTTAAAGCTCAGTTTCCTTTTTGTTTTAT
TGTATGCGTTGGGTTTGCAGCATGAACTTGCACAGATAATGCACGTTTTCTGGTTAAGTAAACATGATGCACACTATTCTGTAACAGAAA
GCCCTATTGTGCCTTACCTGTGTGCTTTTGTGGGCACCTTGTTTATGAAGAATAAAAAATGATTTGTTATCTGAAGAGAATAAATTTTAA
ATTCTCAGTTTATGTCTCAGATGCTAACGTGTGAAAATATAAATATATATAATATATAAAGTAACCAGTCTTCCTGTATTTTATGTGCAT
CATAGTGATTTATCTGAGCTTAGTGACCCCCATCTTGTAACCTGTTGCAAGAGTGAATGTAAAAAATAGTTGTGGCATTTTAAAAGGTCG
CCTTTGATGCAGATGCATCTTTTTCTTGCTTCTAAAACATATTTCATGTAAACATTGTACATTTATTATTGTAATATATACTATTATGCA
GCTTATTTTACCTGAAACTGTTAAGCCGACCAAGATCCCTCCCTGCAAGACAGATGGGAATGTGTATAATAACTAGGTATTTGAGAAGTT

>In-frame_RASSF6_ENST00000335049_chr4_74459168_-_LEMD3_ENST00000308330_chr12_65639449_+_2602nt
ATGCTCTGGGAGGAGACAGGCGCCGCCCCTGCGCCCGCGCGGGCCTCGGACCTCCCCTACAGAATTCACTTCCTGTCCTCTGGCCTCATT
CTGGTCACAAGGCAACTGACTGAAGATGGCAAACTAATTGTTGAAGGAATGCTGGACATTTTCTGGGGAGTAAAACGACCTATACAGCTA
AAAATACAAGATGAGAAGCCATTCTCTTCTTTTACTAGTATGAAGTCATCAGACGTCTTCTCCAGCAAAGGGGAAATAGGGGATCAGTGG
CATTTGGCAATTCAAGAAGCAATTTTAGAAAAATGCAGTGATAATGATGGCATTGTTCACATTGCAGTAGACAAAAATTCACGTGAGGGT
TGTGTATATGTTAAATGTCTGTCTCCAGAATATGCTGGAAAGGCTTTTAAAGCATTGCATGGCTCTTGGTTTGATGGGAAATTGGTTACA
GTAAAATATTTACGACTAGATAGATACCACCATCGCTTTCCCCAGGCTCTCACTTCCAACACTCCATTGAAGCCATCAAATAAACATATG
AACTCCATGTCTCATCTTCGTCTTCGGACTGGCCTAACCAATTCTCAAGGAAGTTCCTGAAAAGATTTTCTTCCATTTCTAAGACTGTTA
TTTACAATAGGAAAATTCCTGTTTGGCTTTTTGTCTTCCTTTTTAAATGCTTTTTGTATGTAATATTTTTATTGATGAATACATCTCTGA
ACGTTCCAGAAGTCTTAAGGTTCCAAAGGGATTTAGCAGTGAGGCAGCAATGCTGAGTAGGTAGGATAATTATTTCATTCAGTTTTTGGA
GCTCAGTTAAGCCAATACATTTAAAGTTTTGCATGAGGAACACTGACTTTATTAAGCATTTTCAGATGTGGTGGTTGTATTTTTGCCCCA
AGAAGTGTTTGGATAACCACACAAAAGCATGATGAAAAGGCTTCTTGTAGTCCCATAATTTCTTGTGAACTAATGTTGTGAATTTTTGTA
TACAGTCACCTGCATAGTTCCTACAGGCTAATGTGGTAAAACTGTTGATTTCCCAATTTAACCTTAGGTTTCTGTTGCTTATAAGCGATT
CATTTGCTACGGCTGGAATATGGGAAAATTAATTTGGGCTTAGTGGTTACAAATATGTGTAAGTGGATGTATATGTACTTAAACTGGCTT
TGTATATATGTATAAATGCTGGTGGTGGTGAAAGTAGTCTTGTTTTATGAGGATGTCTGCATTAAAGCAGTAAAATAAGCTTTCCATTTT
ATTCATAATCTAATGTGTGTGTATATATGTATGTGTGTATGTGTGTGTATATATAGATGTATATATATACACACACAGAGATATATACAT
ATGGCTGTACTTTTGCATAGATCAAACAGCCAAACACCTGGAAGTATTAGATACAAGTTTAAAATATCTTTTATAGGTTTTATATAAAAA
TGTCTGAGTATGATTTTGTGTGAAAGTTCTGATACCAGTTGTAATAGAGTCAAATTTATGTGAGCAATAAAGAAGAAATTGGCAGATATT
GGAAAAATATTTTGTGAAAAGCTGTATTTATTATAAATACTAGGGCCATGACATAGTACCATTGGGGTTAAGTCATTTTCCCAATCTATT
TATAATTTAATGATATGTTAGTGCCTCTGTTATATGTCAAGTTTAAAGCAGGGCACATTGTTGCAGCAAAATGTGTATTTGACAAATTAT
ACTTGCAATTTTGGGTCATGAAAGTTTGCAATATAGTAAATGCACGATTGACTGTTGCTTTGTGCCTCAGTATTTAATTTGTTTCAGTAA
ACTTACTTTATTACTGTTTATGATTTCAGATAAAAATAGTTGCTGAGTAAATTTTACTTGTAATCTACAATTGGCTTTTTAAAAATAACC
TGTTGATATATAATTGTCAGTCCAAATGAATATGTGAAACAGCTGGAATTGTACAAATTTTGGTTGTATTTAAAGCTCAGTTTCCTTTTT
GTTTTATTGTATGCGTTGGGTTTGCAGCATGAACTTGCACAGATAATGCACGTTTTCTGGTTAAGTAAACATGATGCACACTATTCTGTA
ACAGAAAGCCCTATTGTGCCTTACCTGTGTGCTTTTGTGGGCACCTTGTTTATGAAGAATAAAAAATGATTTGTTATCTGAAGAGAATAA
ATTTTAAATTCTCAGTTTATGTCTCAGATGCTAACGTGTGAAAATATAAATATATATAATATATAAAGTAACCAGTCTTCCTGTATTTTA
TGTGCATCATAGTGATTTATCTGAGCTTAGTGACCCCCATCTTGTAACCTGTTGCAAGAGTGAATGTAAAAAATAGTTGTGGCATTTTAA
AAGGTCGCCTTTGATGCAGATGCATCTTTTTCTTGCTTCTAAAACATATTTCATGTAAACATTGTACATTTATTATTGTAATATATACTA
TTATGCAGCTTATTTTACCTGAAACTGTTAAGCCGACCAAGATCCCTCCCTGCAAGACAGATGGGAATGTGTATAATAACTAGGTATTTG


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FusionGenePPI for RASSF6_LEMD3


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
RASSF6STK3, SAV1, MOAP1, MDM2, KDM3A, STK4, HECTD1, AMY1ALEMD3SMAD2, SMAD3, CDV3, DUT, SMAD9, SMAD1, LMNA, PYCARD, SPINT2, SRPRB, NRG1, SLAMF7, TMEM171, TEX29, SYNE4, VSIG2, B3GAT3, SGCA, WBP1, LPAR1, HTR3C, NTRK1, NUP160, NUP35, HIST1H2BG, B9D2, TCTN2, TCTN3, TMEM17, TMEM216, NANOG, POU5F1, CTDNEP1, AOC2, KIAA1467, MME, IPPK, ZNRF4, TRHDE, LAMP1, CDHR5, SYT12, CD44, PCDHGB1, LRRC32, PCDHGB4, TRIM25, G3BP1


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 RASSF6_LEMD3


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 RASSF6_LEMD3


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