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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: 32533

FusionGeneSummary for SACM1L_ANAPC13

check button Fusion gene summary
Fusion gene informationFusion gene name: SACM1L_ANAPC13
Fusion gene ID: 32533
HgeneTgene
Gene symbol

SACM1L

ANAPC13

Gene ID

22908

25847

Gene nameSAC1 like phosphatidylinositide phosphataseanaphase promoting complex subunit 13
SynonymsSAC1APC13|SWM1
Cytomap

3p21.31

3q22.2

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositide phosphatase SAC1SAC1 suppressor of actin mutations 1 likesuppressor of actin 1suppressor of actin mutations 1-like proteinanaphase-promoting complex subunit 13cyclosome subunit 13
Modification date2018052620180519
UniProtAcc

Q9NTJ5

Q9BS18

Ensembl transtripts involved in fusion geneENST00000464524, ENST00000418611, 
ENST00000389061, ENST00000541314, 
ENST00000510994, ENST00000354910, 
ENST00000514612, ENST00000511751, 
Fusion gene scores* DoF score4 X 2 X 3=242 X 2 X 2=8
# samples 42
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: SACM1L [Title/Abstract] AND ANAPC13 [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
HgeneSACM1L

GO:0046856

phosphatidylinositol dephosphorylation

24209621

TgeneANAPC13

GO:0070979

protein K11-linked ubiquitination

18485873


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-BH-A18P-01ASACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
* 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-5UTRENST00000464524ENST00000510994SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
intron-5UTRENST00000464524ENST00000354910SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
intron-5UTRENST00000464524ENST00000514612SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
intron-5UTRENST00000464524ENST00000511751SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000418611ENST00000510994SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000418611ENST00000354910SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000418611ENST00000514612SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000418611ENST00000511751SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5CDS-5UTRENST00000389061ENST00000510994SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5CDS-5UTRENST00000389061ENST00000354910SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5CDS-5UTRENST00000389061ENST00000514612SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5CDS-5UTRENST00000389061ENST00000511751SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000541314ENST00000510994SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000541314ENST00000354910SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000541314ENST00000514612SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-
5UTR-5UTRENST00000541314ENST00000511751SACM1Lchr3

45730989

+ANAPC13chr3

134201773

-

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FusionProtFeatures for SACM1L_ANAPC13


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SACM1L

Q9NTJ5

ANAPC13

Q9BS18

Component of the anaphase promoting complex/cyclosome(APC/C), a cell cycle-regulated E3 ubiquitin ligase that controlsprogression through mitosis and the G1 phase of the cell cycle.The APC/C complex acts by mediating ubiquitination and subsequentdegradation of target proteins: it mainly mediates the formationof 'Lys-11'-linked polyubiquitin chains and, to a lower extent,the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitinchains. {ECO:0000269|PubMed:15060174,ECO:0000269|PubMed:18485873}.

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 SACM1L_ANAPC13


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 SACM1L_ANAPC13


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
SACM1LSACM1L, COPA, COPB1, COPE, COPG1, PRKCA, SPINT2, P2RY12, EVA1C, LPAR1, NTRK1, CREB3, TM9SF4, FOXB1, SLC22A9, TRIM25, LMNA, TESANAPC13CDC27, ANAPC4, CDC16, ANAPC5, CDC23, ANAPC7, CDC26, MOV10, NXF1, TAF4, ANAPC15, USP37, ANAPC2, ANAPC1, ANAPC16, FZR1, FBXO5, ANAPC10


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 SACM1L_ANAPC13


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 SACM1L_ANAPC13


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