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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: 32536

FusionGeneSummary for SACM1L_TCTA

check button Fusion gene summary
Fusion gene informationFusion gene name: SACM1L_TCTA
Fusion gene ID: 32536
HgeneTgene
Gene symbol

SACM1L

TCTA

Gene ID

22908

6988

Gene nameSAC1 like phosphatidylinositide phosphataseT cell leukemia translocation altered
SynonymsSAC1-
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositide phosphatase SAC1SAC1 suppressor of actin mutations 1 likesuppressor of actin 1suppressor of actin mutations 1-like proteinT-cell leukemia translocation-altered gene proteinT-cell leukemia translocation-associated gene protein
Modification date2018052620180523
UniProtAcc

Q9NTJ5

P57738

Ensembl transtripts involved in fusion geneENST00000464524, ENST00000418611, 
ENST00000389061, ENST00000541314, 
ENST00000273590, ENST00000493381, 
Fusion gene scores* DoF score4 X 2 X 3=243 X 4 X 2=24
# samples 45
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/24*10)=1.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SACM1L [Title/Abstract] AND TCTA [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

TgeneTCTA

GO:0045671

negative regulation of osteoclast differentiation

19560569

TgeneTCTA

GO:0072675

osteoclast fusion

19560569


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
TCGALDLIHCTCGA-2Y-A9H0-01ASACM1Lchr3

45730989

+TCTAchr3

49450489

+
* 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-3CDSENST00000464524ENST00000273590SACM1Lchr3

45730989

+TCTAchr3

49450489

+
intron-3UTRENST00000464524ENST00000493381SACM1Lchr3

45730989

+TCTAchr3

49450489

+
5UTR-3CDSENST00000418611ENST00000273590SACM1Lchr3

45730989

+TCTAchr3

49450489

+
5UTR-3UTRENST00000418611ENST00000493381SACM1Lchr3

45730989

+TCTAchr3

49450489

+
Frame-shiftENST00000389061ENST00000273590SACM1Lchr3

45730989

+TCTAchr3

49450489

+
5CDS-3UTRENST00000389061ENST00000493381SACM1Lchr3

45730989

+TCTAchr3

49450489

+
5UTR-3CDSENST00000541314ENST00000273590SACM1Lchr3

45730989

+TCTAchr3

49450489

+
5UTR-3UTRENST00000541314ENST00000493381SACM1Lchr3

45730989

+TCTAchr3

49450489

+

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FusionProtFeatures for SACM1L_TCTA


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

Q9NTJ5

TCTA

P57738

May be required for cellular fusion duringosteoclastogenesis. {ECO:0000269|PubMed:19560569}.

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_TCTA


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_TCTA


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, TESTCTAATXN1, SMAD4


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_TCTA


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_TCTA


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