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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: 20690

FusionGeneSummary for MALT1_SLC26A4

check button Fusion gene summary
Fusion gene informationFusion gene name: MALT1_SLC26A4
Fusion gene ID: 20690
HgeneTgene
Gene symbol

MALT1

SLC26A4

Gene ID

10892

5172

Gene nameMALT1 paracaspasesolute carrier family 26 member 4
SynonymsIMD12|MLT|MLT1|PCASP1DFNB4|EVA|PDS|TDH2B
Cytomap

18q21.32

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionmucosa-associated lymphoid tissue lymphoma translocation protein 1MALT lymphoma-associated translocationMALT1 proteasecaspase-like proteinmucosa associated lymphoid tissue lymphoma translocation gene 1paracaspaseparacaspase-1pendrinsodium-independent chloride/iodide transportersolute carrier family 26 (anion exchanger), member 4truncated solute carrier family 26
Modification date2018052920180523
UniProtAcc

Q9UDY8

O43511

Ensembl transtripts involved in fusion geneENST00000348428, ENST00000345724, 
ENST00000265715, ENST00000541474, 
ENST00000544569, ENST00000543100, 
ENST00000480841, 
Fusion gene scores* DoF score4 X 4 X 3=485 X 4 X 5=100
# samples 55
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MALT1 [Title/Abstract] AND SLC26A4 [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
HgeneMALT1

GO:0006508

proteolysis

18223652

HgeneMALT1

GO:0042981

regulation of apoptotic process

12819136

HgeneMALT1

GO:0050852

T cell receptor signaling pathway

15125833

HgeneMALT1

GO:0051168

nuclear export

16123224

HgeneMALT1

GO:0051259

protein complex oligomerization

15125833


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
TCGALDPRADTCGA-EJ-A6RC-01AMALT1chr18

56402561

+SLC26A4chr7

107338487

+
* 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-shitENST00000348428ENST00000265715MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000348428ENST00000541474MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000348428ENST00000544569MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000348428ENST00000543100MALT1chr18

56402561

+SLC26A4chr7

107338487

+
5CDS-3UTRENST00000348428ENST00000480841MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000345724ENST00000265715MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000345724ENST00000541474MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000345724ENST00000544569MALT1chr18

56402561

+SLC26A4chr7

107338487

+
Frame-shitENST00000345724ENST00000543100MALT1chr18

56402561

+SLC26A4chr7

107338487

+
5CDS-3UTRENST00000345724ENST00000480841MALT1chr18

56402561

+SLC26A4chr7

107338487

+

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FusionProtFeatures for MALT1_SLC26A4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MALT1

Q9UDY8

SLC26A4

O43511

Enhances BCL10-induced activation of NF-kappa-B.Involved in nuclear export of BCL10. Binds to TRAF6, inducingTRAF6 oligomerization and activation of its ligase activity. Hasubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays animportant role in T-cell antigen receptor-induced integrinadhesion. Involved in the induction of T helper 17 cells (Th17)differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cellreceptor (TCR) stimulation which releases their cooperativelyrepressed targets to promote Th17 cell differentiation (Bysimilarity). {ECO:0000250|UniProtKB:Q2TBA3,ECO:0000269|PubMed:11262391, ECO:0000269|PubMed:14695475,ECO:0000269|PubMed:18264101}. Sodium-independent transporter of chloride and iodide.{ECO:0000269|PubMed:10192399}.

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 MALT1_SLC26A4


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 MALT1_SLC26A4


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
MALT1BCL10, UBE2G2, TRAF6, TRAF2, NFKBIA, CSNK1A1, IKBKG, COPS5, GPS1, CAMK2G, MALT1, RELB, DIABLO, CARD11, USP2, TAB2, MAP3K7, HECTD3, SQSTM1, PRKCQ, DAB2, USP9X, KDM1A, CARM1, PRMT6, SUV39H1, STUB1, RNF31, TNFAIP3, UBE2V2, UBE2N, XPO1, RBCK1, PRKCD, TRIB1, IKBKB, CARD14SLC26A4


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 MALT1_SLC26A4


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 MALT1_SLC26A4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMALT1C0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneMALT1C3809583IMMUNODEFICIENCY 121ORPHANET;UNIPROT
TgeneSLC26A4C0271829Pendred's syndrome22CTD_human;ORPHANET;UNIPROT
TgeneSLC26A4C3538946DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT17CTD_human;UNIPROT
TgeneSLC26A4C0018021Goiter3CTD_human;HPO
TgeneSLC26A4C0018784Sensorineural Hearing Loss (disorder)3CTD_human;HPO
TgeneSLC26A4C0033578Prostatic Neoplasms1CTD_human
TgeneSLC26A4C1384666hearing impairment1CTD_human