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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: 32586

FusionGeneSummary for SAMD4A_LRBA

check button Fusion gene summary
Fusion gene informationFusion gene name: SAMD4A_LRBA
Fusion gene ID: 32586
HgeneTgene
Gene symbol

SAMD4A

LRBA

Gene ID

23034

987

Gene namesterile alpha motif domain containing 4ALPS responsive beige-like anchor protein
SynonymsSAMD4|SMAUG|SMAUG1|SMG|SMGABGL|CDC4L|CVID8|LAB300|LBA
Cytomap

14q22.2

4q31.3

Type of geneprotein-codingprotein-coding
Descriptionprotein Smaug homolog 1SAM domain-containing protein 4Alipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing
Modification date2018052320180519
UniProtAcc

Q9UPU9

P50851

Ensembl transtripts involved in fusion geneENST00000554335, ENST00000251091, 
ENST00000555112, ENST00000392067, 
ENST00000357634, ENST00000555192, 
ENST00000535741, ENST00000510413, 
ENST00000503716, ENST00000357115, 
ENST00000507224, 
Fusion gene scores* DoF score6 X 4 X 5=12015 X 15 X 7=1575
# samples 718
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1575*10)=-3.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SAMD4A [Title/Abstract] AND LRBA [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
HgeneSAMD4A

GO:0045727

positive regulation of translation

16221671


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
TCGARVPRADTCGA-KK-A7B4-01ASAMD4Achr14

55034830

+LRBAchr4

151842445

-
* 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-shiftENST00000554335ENST00000535741SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000554335ENST00000510413SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000554335ENST00000503716SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000554335ENST00000357115SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000554335ENST00000507224SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000251091ENST00000535741SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000251091ENST00000510413SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000251091ENST00000503716SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000251091ENST00000357115SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000251091ENST00000507224SAMD4Achr14

55034830

+LRBAchr4

151842445

-
3UTR-3CDSENST00000555112ENST00000535741SAMD4Achr14

55034830

+LRBAchr4

151842445

-
3UTR-3CDSENST00000555112ENST00000510413SAMD4Achr14

55034830

+LRBAchr4

151842445

-
3UTR-intronENST00000555112ENST00000503716SAMD4Achr14

55034830

+LRBAchr4

151842445

-
3UTR-intronENST00000555112ENST00000357115SAMD4Achr14

55034830

+LRBAchr4

151842445

-
3UTR-intronENST00000555112ENST00000507224SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000392067ENST00000535741SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000392067ENST00000510413SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000392067ENST00000503716SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000392067ENST00000357115SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000392067ENST00000507224SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000357634ENST00000535741SAMD4Achr14

55034830

+LRBAchr4

151842445

-
Frame-shiftENST00000357634ENST00000510413SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000357634ENST00000503716SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000357634ENST00000357115SAMD4Achr14

55034830

+LRBAchr4

151842445

-
5CDS-intronENST00000357634ENST00000507224SAMD4Achr14

55034830

+LRBAchr4

151842445

-
intron-3CDSENST00000555192ENST00000535741SAMD4Achr14

55034830

+LRBAchr4

151842445

-
intron-3CDSENST00000555192ENST00000510413SAMD4Achr14

55034830

+LRBAchr4

151842445

-
intron-intronENST00000555192ENST00000503716SAMD4Achr14

55034830

+LRBAchr4

151842445

-
intron-intronENST00000555192ENST00000357115SAMD4Achr14

55034830

+LRBAchr4

151842445

-
intron-intronENST00000555192ENST00000507224SAMD4Achr14

55034830

+LRBAchr4

151842445

-

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FusionProtFeatures for SAMD4A_LRBA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SAMD4A

Q9UPU9

LRBA

P50851

Acts as a translational repressor of SRE-containingmessengers. {ECO:0000269|PubMed:16221671}. May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {ECO:0000250}.

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 SAMD4A_LRBA


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 SAMD4A_LRBA


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
SAMD4AYWHAG, YWHAB, GOLGA2, NUTM1, XPO1, SAMD4B, INPPL1, TNIP1, YWHAZ, YWHAE, DDB2, YWHAH, CSDE1, GAN, PDP1, TRIM25LRBATUSC2, NOTCH1, FN1, BAG3, CAST, KIF15, DCAF11, INPPL1, MLF2, VCP, MOV10, RIC3, CT55, PARP16, RD3, TMEM52B, MED4, TMEM17, TMEM216, NCR3LG1, PVR, FAM196A, EPHA1, GYPB, DLK2, 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 SAMD4A_LRBA


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 SAMD4A_LRBA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSAMD4AC0236969Substance-Related Disorders1CTD_human
TgeneLRBAC3553512IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY1ORPHANET;UNIPROT