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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: 12906

FusionGeneSummary for FAN1_FAN1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAN1_FAN1
Fusion gene ID: 12906
HgeneTgene
Gene symbol

FAN1

FAN1

Gene ID

22909

22909

Gene nameFANCD2 and FANCI associated nuclease 1FANCD2 and FANCI associated nuclease 1
SynonymsKIAA1018|KMIN|MTMR15|hFAN1KIAA1018|KMIN|MTMR15|hFAN1
Cytomap

15q13.3

15q13.3

Type of geneprotein-codingprotein-coding
Descriptionfanconi-associated nuclease 1FANCD2/FANCI-associated nuclease 1coiled-coil domain-containing protein MTMR15fanconi anemia associated nuclease 1myotubularin-related protein 15fanconi-associated nuclease 1FANCD2/FANCI-associated nuclease 1coiled-coil domain-containing protein MTMR15fanconi anemia associated nuclease 1myotubularin-related protein 15
Modification date2018052320180523
UniProtAcc

Q9Y2M0

Q9Y2M0

Ensembl transtripts involved in fusion geneENST00000561594, ENST00000362065, 
ENST00000561607, ENST00000565466, 
ENST00000568145, 		ENST00000561594, 
ENST00000362065, ENST00000561607, 
ENST00000565466, ENST00000568145, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: FAN1 [Title/Abstract] AND FAN1 [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
HgeneFAN1

GO:0033683

nucleotide-excision repair, DNA incision

20603015|25430771

HgeneFAN1

GO:0036297

interstrand cross-link repair

25430771

TgeneFAN1

GO:0033683

nucleotide-excision repair, DNA incision

20603015|25430771

TgeneFAN1

GO:0036297

interstrand cross-link repair

25430771


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
ChiTaRS3.1CN263708FAN1chr15

31235118

-FAN1chr15

31235127

+
* 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-intronENST00000561594ENST00000561594FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-3UTRENST00000561594ENST00000362065FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561594ENST00000561607FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561594ENST00000565466FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561594ENST00000568145FAN1chr15

31235118

-FAN1chr15

31235127

+
3UTR-intronENST00000362065ENST00000561594FAN1chr15

31235118

-FAN1chr15

31235127

+
3UTR-3UTRENST00000362065ENST00000362065FAN1chr15

31235118

-FAN1chr15

31235127

+
3UTR-intronENST00000362065ENST00000561607FAN1chr15

31235118

-FAN1chr15

31235127

+
3UTR-intronENST00000362065ENST00000565466FAN1chr15

31235118

-FAN1chr15

31235127

+
3UTR-intronENST00000362065ENST00000568145FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561607ENST00000561594FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-3UTRENST00000561607ENST00000362065FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561607ENST00000561607FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561607ENST00000565466FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000561607ENST00000568145FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000565466ENST00000561594FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-3UTRENST00000565466ENST00000362065FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000565466ENST00000561607FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000565466ENST00000565466FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000565466ENST00000568145FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000568145ENST00000561594FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-3UTRENST00000568145ENST00000362065FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000568145ENST00000561607FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000568145ENST00000565466FAN1chr15

31235118

-FAN1chr15

31235127

+
intron-intronENST00000568145ENST00000568145FAN1chr15

31235118

-FAN1chr15

31235127

+

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FusionProtFeatures for FAN1_FAN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAN1

Q9Y2M0

FAN1

Q9Y2M0

Nuclease required for the repair of DNA interstrandcross-links (ICL) recruited at sites of DNA damage bymonoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologousrecombination, probably in the resolution of homologousrecombination intermediates (PubMed:20603015, PubMed:20603016,PubMed:20603073, PubMed:20671156, PubMed:24981866,PubMed:25430771). Not involved in DNA double-strand breaksresection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3'exonuclease that anchors at a cut end of DNA and cleaves DNAsuccessively at every third nucleotide, allowing to excise an ICLfrom one strand through flanking incisions. Probably keepsexcising with 3'-flap annealing until it reaches and unhooks theICL (PubMed:25430771). Acts at sites that have a 5'-terminalphosphate anchor at a nick or a 1- or 2-nucleotide flap and isaugmented by a 3' flap (PubMed:25430771). Also has endonucleaseactivity toward 5'-flaps (PubMed:20603015, PubMed:20603016,PubMed:24981866). {ECO:0000269|PubMed:20603015,ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073,ECO:0000269|PubMed:20671156, ECO:0000269|PubMed:24981866,ECO:0000269|PubMed:25135477, ECO:0000269|PubMed:25430771}. Nuclease required for the repair of DNA interstrandcross-links (ICL) recruited at sites of DNA damage bymonoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologousrecombination, probably in the resolution of homologousrecombination intermediates (PubMed:20603015, PubMed:20603016,PubMed:20603073, PubMed:20671156, PubMed:24981866,PubMed:25430771). Not involved in DNA double-strand breaksresection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3'exonuclease that anchors at a cut end of DNA and cleaves DNAsuccessively at every third nucleotide, allowing to excise an ICLfrom one strand through flanking incisions. Probably keepsexcising with 3'-flap annealing until it reaches and unhooks theICL (PubMed:25430771). Acts at sites that have a 5'-terminalphosphate anchor at a nick or a 1- or 2-nucleotide flap and isaugmented by a 3' flap (PubMed:25430771). Also has endonucleaseactivity toward 5'-flaps (PubMed:20603015, PubMed:20603016,PubMed:24981866). {ECO:0000269|PubMed:20603015,ECO:0000269|PubMed:20603016, ECO:0000269|PubMed:20603073,ECO:0000269|PubMed:20671156, ECO:0000269|PubMed:24981866,ECO:0000269|PubMed:25135477, ECO:0000269|PubMed:25430771}.

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 FAN1_FAN1


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 FAN1_FAN1


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 FAN1_FAN1


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 FAN1_FAN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAN1C2931118Megalocytic interstitial nephritis1CTD_human
HgeneFAN1C3553774INTERSTITIAL NEPHRITIS, KARYOMEGALIC1ORPHANET;UNIPROT
TgeneFAN1C2931118Megalocytic interstitial nephritis1CTD_human
TgeneFAN1C3553774INTERSTITIAL NEPHRITIS, KARYOMEGALIC1ORPHANET;UNIPROT