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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: 12994

FusionGeneSummary for FAT4_STAMBPL1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAT4_STAMBPL1
Fusion gene ID: 12994
HgeneTgene
Gene symbol

FAT4

STAMBPL1

Gene ID

79633

57559

Gene nameFAT atypical cadherin 4STAM binding protein like 1
SynonymsCDHF14|CDHR11|FAT-J|FATJ|HKLLS2|NBLA00548|VMLDS2ALMalpha|AMSH-FP|AMSH-LP|bA399O19.2
Cytomap

4q28.1

10q23.31

Type of geneprotein-codingprotein-coding
Descriptionprotocadherin Fat 4FAT tumor suppressor homolog 4cadherin family member 14cadherin-related family member 11fat-like cadherin protein FAT-Jputative protein product of Nbla00548AMSH-like proteaseassociated molecule with the SH3 domain of STAM (AMSH) - Family Proteinassociated molecule with the SH3 domain of STAM (AMSH) like protein
Modification date2018052020180523
UniProtAcc

Q6V0I7

Q96FJ0

Ensembl transtripts involved in fusion geneENST00000394329, ENST00000335110, 
ENST00000371927, ENST00000371926, 
ENST00000461650, ENST00000371924, 
ENST00000371922, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 5 X 1=15
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/15*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAT4 [Title/Abstract] AND STAMBPL1 [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

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
ChiTaRS3.1BP231880FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
* 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
3UTR-intronENST00000394329ENST00000371927FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
3UTR-intronENST00000394329ENST00000371926FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
3UTR-intronENST00000394329ENST00000461650FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
3UTR-intronENST00000394329ENST00000371924FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
3UTR-intronENST00000394329ENST00000371922FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
intron-intronENST00000335110ENST00000371927FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
intron-intronENST00000335110ENST00000371926FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
intron-intronENST00000335110ENST00000461650FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
intron-intronENST00000335110ENST00000371924FAT4chr4

126413978

+STAMBPL1chr10

90712529

-
intron-intronENST00000335110ENST00000371922FAT4chr4

126413978

+STAMBPL1chr10

90712529

-

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FusionProtFeatures for FAT4_STAMBPL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAT4

Q6V0I7

STAMBPL1

Q96FJ0

Cadherins are calcium-dependent cell adhesion proteins.FAT4 plays a role in the maintenance of planar cell polarity aswell as in inhibition of YAP1-mediated neuroprogenitor cellproliferation and differentiation (By similarity). {ECO:0000250}. Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linkedpolyubiquitin chains. {ECO:0000269|PubMed:18758443}.

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 FAT4_STAMBPL1


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 FAT4_STAMBPL1


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 FAT4_STAMBPL1


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 FAT4_STAMBPL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAT4C3809875VAN MALDERGEM SYNDROME 22UNIPROT
HgeneFAT4C0001418Adenocarcinoma1CTD_human
HgeneFAT4C0025202melanoma1CTD_human
HgeneFAT4C0038356Stomach Neoplasms1CTD_human
HgeneFAT4C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneFAT4C1691228Cystic Kidney Diseases1CTD_human
HgeneFAT4C1832390Van Maldergem Wetzburger Verloes syndrome1CTD_human;ORPHANET
HgeneFAT4C1842563Heterotopia, Periventricular, Autosomal Recessive1CTD_human
HgeneFAT4C4014939HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 21UNIPROT