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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: 33835

FusionGeneSummary for SIAH1_SLC6A15

check button Fusion gene summary
Fusion gene informationFusion gene name: SIAH1_SLC6A15
Fusion gene ID: 33835
HgeneTgene
Gene symbol

SIAH1

SLC6A15

Gene ID

6477

55117

Gene namesiah E3 ubiquitin protein ligase 1solute carrier family 6 member 15
SynonymsSIAH1ANTT73|SBAT1|V7-3|hv7-3
Cytomap

16q12.1

12q21.31

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase SIAH1RING-type E3 ubiquitin transferase SIAH1seven in absentia homolog 1siah-1asodium-dependent neutral amino acid transporter B(0)AT2homolog of rat orphan transporter v7-3orphan sodium- and chloride-dependent neurotransmitter transporter NTT73orphan transporter v7-3sodium- and chloride-dependent neurotransmitter transporter NTT
Modification date2018052320180523
UniProtAcc

Q8IUQ4

Q9H2J7

Ensembl transtripts involved in fusion geneENST00000380006, ENST00000356721, 
ENST00000394725, ENST00000573005, 
ENST00000309283, ENST00000266682, 
ENST00000552192, ENST00000551388, 
ENST00000450363, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 4 X 2=48
# samples 34
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SIAH1 [Title/Abstract] AND SLC6A15 [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
HgeneSIAH1

GO:0006511

ubiquitin-dependent protein catabolic process

23001567

HgeneSIAH1

GO:0030163

protein catabolic process

11389840

HgeneSIAH1

GO:0043065

positive regulation of apoptotic process

21185211

TgeneSLC6A15

GO:0015804

neutral amino acid transport

16226721


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
TCGALDSARCTCGA-DX-A23R-01ASIAH1chr16

48450727

-SLC6A15chr12

85267107

-
* 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
intron-3CDSENST00000380006ENST00000309283SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000380006ENST00000266682SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000380006ENST00000552192SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000380006ENST00000551388SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000380006ENST00000450363SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000356721ENST00000309283SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000356721ENST00000266682SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000356721ENST00000552192SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000356721ENST00000551388SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000356721ENST00000450363SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000394725ENST00000309283SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000394725ENST00000266682SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000394725ENST00000552192SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000394725ENST00000551388SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000394725ENST00000450363SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000573005ENST00000309283SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000573005ENST00000266682SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-3CDSENST00000573005ENST00000552192SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000573005ENST00000551388SIAH1chr16

48450727

-SLC6A15chr12

85267107

-
intron-intronENST00000573005ENST00000450363SIAH1chr16

48450727

-SLC6A15chr12

85267107

-

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FusionProtFeatures for SIAH1_SLC6A15


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIAH1

Q8IUQ4

SLC6A15

Q9H2J7

E3 ubiquitin-protein ligase that mediates ubiquitinationand subsequent proteasomal degradation of target proteins. E3ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfers the ubiquitin to targeted substrates. Mediates E3ubiquitin ligase activity either through direct binding tosubstrates or by functioning as the essential RING domain subunitof larger E3 complexes. Triggers the ubiquitin-mediateddegradation of many substrates, including proteins involved intranscription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), acell surface receptor (DCC), the cell-surface receptor-typetyrosine kinase FLT3, the cytoplasmic signal transductionmolecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1),a microtubule motor protein (KIF22), a protein involved insynaptic vesicle function in neurons (SYP), a structural protein(CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2through proteasomal degradation. It is thereby involved in manycellular processes such as apoptosis, tumor suppression, cellcycle, axon guidance, transcription regulation, spermatogenesisand TNF-alpha signaling. Has some overlapping function with SIAH2.Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO)generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to thenucleus. GAPDH acts as a stabilizer of SIAH1, facilitating thedegradation of nuclear proteins. {ECO:0000269|PubMed:10747903,ECO:0000269|PubMed:11146551, ECO:0000269|PubMed:11389839,ECO:0000269|PubMed:11389840, ECO:0000269|PubMed:11483517,ECO:0000269|PubMed:11483518, ECO:0000269|PubMed:11752454,ECO:0000269|PubMed:12072443, ECO:0000269|PubMed:14506261,ECO:0000269|PubMed:14645235, ECO:0000269|PubMed:14654780,ECO:0000269|PubMed:15064394, ECO:0000269|PubMed:16085652,ECO:0000269|PubMed:18536714, ECO:0000269|PubMed:19224863,ECO:0000269|PubMed:20508617, ECO:0000269|PubMed:22483617,ECO:0000269|PubMed:9334332, ECO:0000269|PubMed:9858595}. Functions as a sodium-dependent neutral amino acidtransporter. Exhibits preference for the branched-chain aminoacids, particularly leucine, valine and isoleucine and methionine.Mediates the saturable, pH-sensitive and electrogenic cotransportof proline and sodium ions with a stoichiometry of 1:1. May have arole as transporter for neurotransmitter precursors into neurons.In contrast to other members of the neurotransmitter transporterfamily, does not appear to be chloride-dependent.{ECO:0000269|PubMed:16226721}.

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 SIAH1_SLC6A15


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 SIAH1_SLC6A15


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
SIAH1KIF22, PEG10, CACYBP, AFF4, KHDRBS3, RBBP8, DAB1, APC, PEG3, UBE2E3, UBE2D1, TBL1X, VAV1, BAG1, SIAH1, POU2AF1, NUMB, DCC, HIF1AN, TRIB3, PIAS1, PIAS2, UBE2I, PIAS3, UBE2D2, UBE2D3, UBE2D4, UBE2N, UBE2K, UBE2V2, PKD1, SNCAIP, RUNX1, RLIM, UBE2L6, PML, RARA, PHC2, UBE2E2, PLCE1, EEF1D, HIPK2, HERPUD1, CTNNB1, XIAP, SEPT4, ATXN7, SNCA, PSMC5, PSMC6, TERF2, FLT3, PARD3, ELL2, USP19, AFF1, SH3RF1, HTT, KLF10, GAPDH, HIPK1, RNF2, ATN1, NPM1, PUF60, TNK2, HIPK3, GRM5, TRIM8, MYD88, TXN, TFDP1, STAT3, TP53BP2, NUMBL, RAPH1, MAPRE3, COPS5, AQP1, TRIM23, BCL6, CAPG, CDC34, PHC1, FLI1, INHA, KCNJ10, KIFC3, MAB21L1, MX1, PFKM, PVRL2, PYGB, TRIM27, RPL27A, MAPK12, SDCBP, NELFA, ZNF148, DNALI1, FZD9, UXT, CDC23, CDK5R1, SYT7, RAB33A, RAD51AP1, MAPKBP1, KIF1B, RAD54L2, PRPF31, DNAJC15, LACTB2, DDX41, TOLLIP, ZCCHC10, QRICH1, WDYHV1, FAM90A1, C14orf105, TBC1D22B, KIAA1217, ZNF512B, AASDHPPT, ZMAT3, NOL6, OTUB2, ZFYVE21, TMEM43, ZNF671, KIAA0319L, ARMC9, KIAA1683, ZBP1, GDPD5, TRIM7, KATNAL1, SPATC1L, RPS19BP1, PTPMT1, EXOC3-AS1, HIST4H4, PRR20A, SPATA4, MOB3C, UPP2, MTIF3, ZCCHC13, OPRM1, OPRD1, OPRK1, SYP, MAP3K5, DLD, SIAH2, JSRP1, LATS2, MCM2, PRR20E, EXOC3L2, LMNASLC6A15LNX1, TEX29, VAPB, TMEM17, TMEM216, PPM1H, TEX2, KLHL36, TLCD1, SFXN5, TMTC4, GOLGA5, AGPAT3, AGPAT9, CAV1, TMPPE, PTPLB, AGPAT2, PTRH2, ALG8, SPPL3, PXMP2, ACSL4, EBP, GPR89A, ATP8B2, PIGU, ARL6IP5


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 SIAH1_SLC6A15


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 SIAH1_SLC6A15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC6A15C0041696Unipolar Depression3PSYGENET
TgeneSLC6A15C1269683Major Depressive Disorder2PSYGENET