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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: 2148

FusionGeneSummary for APC_SYTL4

check button Fusion gene summary
Fusion gene informationFusion gene name: APC_SYTL4
Fusion gene ID: 2148
HgeneTgene
Gene symbol

APC

SYTL4

Gene ID

324

94121

Gene nameAPC, WNT signaling pathway regulatorsynaptotagmin like 4
SynonymsBTPS2|DP2|DP2.5|DP3|GS|PPP1R46SLP4
Cytomap

5q22.2

Xq22.1

Type of geneprotein-codingprotein-coding
Descriptionadenomatous polyposis coli proteinWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5protein phosphatase 1, regulatory subunit 46truncated adenomatosis polyposis colisynaptotagmin-like protein 4exophilin-2granuphilin-a
Modification date2018052720180523
UniProtAcc

P25054

Q96C24

Ensembl transtripts involved in fusion geneENST00000505350, ENST00000457016, 
ENST00000257430, ENST00000508376, 
ENST00000372989, ENST00000491602, 
ENST00000454200, ENST00000276141, 
ENST00000455616, ENST00000263033, 
ENST00000372981, 
Fusion gene scores* DoF score11 X 7 X 7=5392 X 2 X 1=4
# samples 112
** MAII scorelog2(11/539*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: APC [Title/Abstract] AND SYTL4 [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
HgeneAPC

GO:0006974

cellular response to DNA damage stimulus

14728717

HgeneAPC

GO:0007026

negative regulation of microtubule depolymerization

11166179

HgeneAPC

GO:0007050

cell cycle arrest

8521819

HgeneAPC

GO:0008285

negative regulation of cell proliferation

8521819

HgeneAPC

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

8521819

HgeneAPC

GO:0065003

protein-containing complex assembly

16188939


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
ChiTaRS3.1BQ346429APCchr5

112181077

+SYTL4chrX

99980976

-
* 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-intronENST00000505350ENST00000372989APCchr5

112181077

+SYTL4chrX

99980976

-
intron-intronENST00000505350ENST00000491602APCchr5

112181077

+SYTL4chrX

99980976

-
intron-intronENST00000505350ENST00000454200APCchr5

112181077

+SYTL4chrX

99980976

-
intron-intronENST00000505350ENST00000276141APCchr5

112181077

+SYTL4chrX

99980976

-
intron-intronENST00000505350ENST00000455616APCchr5

112181077

+SYTL4chrX

99980976

-
intron-intronENST00000505350ENST00000263033APCchr5

112181077

+SYTL4chrX

99980976

-
intron-intronENST00000505350ENST00000372981APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000372989APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000491602APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000454200APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000276141APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000455616APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000263033APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000457016ENST00000372981APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000372989APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000491602APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000454200APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000276141APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000455616APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000263033APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000257430ENST00000372981APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000372989APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000491602APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000454200APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000276141APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000455616APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000263033APCchr5

112181077

+SYTL4chrX

99980976

-
3UTR-intronENST00000508376ENST00000372981APCchr5

112181077

+SYTL4chrX

99980976

-

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FusionProtFeatures for APC_SYTL4


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

P25054

SYTL4

Q96C24

Tumor suppressor. Promotes rapid degradation of CTNNB1and participates in Wnt signaling as a negative regulator. APCactivity is correlated with its phosphorylation state. Activatesthe GEF activity of SPATA13 and ARHGEF4. Plays a role inhepatocyte growth factor (HGF)-induced cell migration. Requiredfor MMP9 up-regulation via the JNK signaling pathway in colorectaltumor cells. Acts as a mediator of ERBB2-dependent stabilizationof microtubules at the cell cortex. It is required for thelocalization of MACF1 to the cell membrane and this localizationof MACF1 is critical for its function in microtubulestabilization. {ECO:0000269|PubMed:10947987,ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759,ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}. Modulates exocytosis of dense-core granules andsecretion of hormones in the pancreas and the pituitary. Interactswith vesicles containing negatively charged phospholipids in aCa(2+)-independent manner (By similarity). {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 APC_SYTL4


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 APC_SYTL4


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


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 APC_SYTL4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSYTL4Q96C24DB00071Insulin PorkSynaptotagmin-like protein 4biotechapproved
TgeneSYTL4Q96C24DB00030Insulin HumanSynaptotagmin-like protein 4biotechapproved|investigational

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RelatedDiseases for APC_SYTL4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPCC0032580Adenomatous Polyposis Coli14CTD_human;ORPHANET;UNIPROT
HgeneAPCC0009375Colonic Neoplasms7CTD_human
HgeneAPCC0009404Colorectal Neoplasms6CTD_human
HgeneAPCC0021841Intestinal Neoplasms5CTD_human
HgeneAPCC0001430Adenoma4CTD_human
HgeneAPCC0021846Intestinal Polyps3CTD_human
HgeneAPCC0001418Adenocarcinoma2CTD_human
HgeneAPCC0004352Autistic Disorder2CTD_human
HgeneAPCC0007621Neoplastic Cell Transformation2CTD_human
HgeneAPCC0025149Medulloblastoma2CTD_human;UNIPROT
HgeneAPCC0034885Rectal Neoplasms2CTD_human
HgeneAPCC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneAPCC0009405Hereditary Nonpolyposis Colorectal Neoplasms1CTD_human
HgeneAPCC0015393Eye Abnormalities1CTD_human
HgeneAPCC0017185Gastrointestinal Neoplasms1CTD_human
HgeneAPCC0017636Glioblastoma1CTD_human
HgeneAPCC0020473Hyperlipidemia1CTD_human
HgeneAPCC0021390Inflammatory Bowel Diseases1CTD_human
HgeneAPCC0023903Liver neoplasms1CTD_human
HgeneAPCC0024121Lung Neoplasms1CTD_human
HgeneAPCC0024667Animal Mammary Neoplasms1CTD_human
HgeneAPCC0025500Mesothelioma1CTD_human
HgeneAPCC0033578Prostatic Neoplasms1CTD_human
HgeneAPCC0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneAPCC0036341Schizophrenia1PSYGENET
HgeneAPCC0079218Fibromatosis, Aggressive1CTD_human;HPO;ORPHANET
HgeneAPCC0206646Fibromatosis, Abdominal1CTD_human
HgeneAPCC0206677Adenomatous Polyps1CTD_human
HgeneAPCC0265325Turcot syndrome (disorder)1CTD_human
HgeneAPCC0699791Stomach Carcinoma1HPO;UNIPROT
HgeneAPCC1879526Aberrant Crypt Foci1CTD_human
HgeneAPCC3714756Intellectual Disability1CTD_human