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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: 13311

FusionGeneSummary for FERMT1_CDRT4

check button Fusion gene summary
Fusion gene informationFusion gene name: FERMT1_CDRT4
Fusion gene ID: 13311
HgeneTgene
Gene symbol

FERMT1

CDRT4

Gene ID

55612

284040

Gene namefermitin family member 1CMT1A duplicated region transcript 4
SynonymsC20orf42|DTGCU2|KIND1|UNC112A|URP1-
Cytomap

20p12.3

17p12

Type of geneprotein-codingprotein-coding
Descriptionfermitin family homolog 1UNC112 related protein 1kindlerinkindlin 1kindlin syndrome proteinunc-112-related protein 1CMT1A duplicated region transcript 4 protein
Modification date2018051920180519
UniProtAcc

Q9BQL6

Q8N9R6

Ensembl transtripts involved in fusion geneENST00000478194, ENST00000217289, 
ENST00000536936, 
ENST00000312177, 
ENST00000519354, 
Fusion gene scores* DoF score5 X 5 X 2=503 X 2 X 3=18
# samples 53
** MAII scorelog2(5/50*10)=0log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FERMT1 [Title/Abstract] AND CDRT4 [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
HgeneFERMT1

GO:0007155

cell adhesion

17012746

HgeneFERMT1

GO:0043616

keratinocyte proliferation

17012746

HgeneFERMT1

GO:0051546

keratinocyte migration

17012746

HgeneFERMT1

GO:0090162

establishment of epithelial cell polarity

17012746


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
TCGALDBRCATCGA-E2-A109-01AFERMT1chr20

6096458

-CDRT4chr17

15341517

-
* 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-3CDSENST00000478194ENST00000312177FERMT1chr20

6096458

-CDRT4chr17

15341517

-
intron-5UTRENST00000478194ENST00000519354FERMT1chr20

6096458

-CDRT4chr17

15341517

-
Frame-shiftENST00000217289ENST00000312177FERMT1chr20

6096458

-CDRT4chr17

15341517

-
5CDS-5UTRENST00000217289ENST00000519354FERMT1chr20

6096458

-CDRT4chr17

15341517

-
5UTR-3CDSENST00000536936ENST00000312177FERMT1chr20

6096458

-CDRT4chr17

15341517

-
5UTR-5UTRENST00000536936ENST00000519354FERMT1chr20

6096458

-CDRT4chr17

15341517

-

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FusionProtFeatures for FERMT1_CDRT4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FERMT1

Q9BQL6

CDRT4

Q8N9R6

Involved in cell adhesion. Contributes to integrinactivation. When coexpressed with talin, potentiates activation ofITGA2B. Required for normal keratinocyte proliferation. Requiredfor normal polarization of basal keratinocytes in skin, and fornormal cell shape. Required for normal adhesion of keratinocytesto fibronectin and laminin, and for normal keratinocyte migrationto wound sites. May mediate TGF-beta 1 signaling in tumorprogression. {ECO:0000269|PubMed:14634021,ECO:0000269|PubMed:17012746, ECO:0000269|PubMed:19804783}.

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 FERMT1_CDRT4


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 FERMT1_CDRT4


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
FERMT1CACYBP, RNASEH2B, SBDS, SKIV2L, TCEB2, TTC37, XPO1, SNW1, CDC5L, CDH1, FERMT2, FERMT3, MAGI3, ITPA, TARSL2CDRT4VAC14, SORT1


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 FERMT1_CDRT4


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 FERMT1_CDRT4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFERMT1C0406557Poikiloderma of Kindler1CTD_human;ORPHANET;UNIPROT