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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: 34237

FusionGeneSummary for SLC25A3_FAM111A

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC25A3_FAM111A
Fusion gene ID: 34237
HgeneTgene
Gene symbol

SLC25A3

FAM111A

Gene ID

5250

63901

Gene namesolute carrier family 25 member 3family with sequence similarity 111 member A
SynonymsOK/SW-cl.48|PHC|PTPGCLEB|KCS2
Cytomap

12q23.1

11q12.1

Type of geneprotein-codingprotein-coding
Descriptionphosphate carrier protein, mitochondrialphosphate transport proteinsolute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3protein FAM111A
Modification date2018052320180519
UniProtAcc

Q00325

Q96PZ2

Ensembl transtripts involved in fusion geneENST00000401722, ENST00000228318, 
ENST00000188376, ENST00000551917, 
ENST00000552981, ENST00000551265, 
ENST00000547534, ENST00000549338, 
ENST00000548847, 
ENST00000528737, 
ENST00000420244, ENST00000529985, 
ENST00000361723, ENST00000533703, 
ENST00000531147, 
Fusion gene scores* DoF score10 X 10 X 3=3003 X 3 X 1=9
# samples 124
** MAII scorelog2(12/300*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC25A3 [Title/Abstract] AND FAM111A [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
ChiTaRS3.1BU684362SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
* 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-3UTRENST00000401722ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000401722ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000401722ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000401722ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000401722ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000401722ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000228318ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000228318ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000228318ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000228318ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000228318ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000228318ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000188376ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000188376ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000188376ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000188376ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000188376ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000188376ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000551917ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000551917ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000551917ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000551917ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000551917ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000551917ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000552981ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000552981ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000552981ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000552981ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000552981ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000552981ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000551265ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000551265ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-intronENST00000551265ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000551265ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000551265ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000551265ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000547534ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000547534ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-intronENST00000547534ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000547534ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000547534ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
intron-3UTRENST00000547534ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000549338ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000549338ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000549338ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000549338ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000549338ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000549338ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000548847ENST00000528737SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000548847ENST00000420244SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-intronENST00000548847ENST00000529985SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000548847ENST00000361723SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000548847ENST00000533703SLC25A3chr12

98995436

-FAM111Achr11

58921887

-
3UTR-3UTRENST00000548847ENST00000531147SLC25A3chr12

98995436

-FAM111Achr11

58921887

-

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FusionProtFeatures for SLC25A3_FAM111A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC25A3

Q00325

FAM111A

Q96PZ2

Transport of phosphate groups from the cytosol to themitochondrial matrix. Phosphate is cotransported with H(+). Mayplay a role regulation of the mitochondrial permeabilitytransition pore (mPTP). Chromatin-associated protein required for PCNA loadingon replication sites. Promotes S-phase entry and DNA synthesis(PubMed:24561620). May directly function at replication forks,explaining why Simian virus 40 (SV40) interacts with FAM111A toovercome host range restriction (PubMed:23093934).{ECO:0000269|PubMed:23093934, ECO:0000269|PubMed:24561620}.

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 SLC25A3_FAM111A


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 SLC25A3_FAM111A


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 SLC25A3_FAM111A


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 SLC25A3_FAM111A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC25A3C1835845Mitochondrial Phosphate Carrier Deficiency1CTD_human;ORPHANET;UNIPROT
TgeneFAM111AC0265291Kenny-Caffey syndrome3ORPHANET;UNIPROT
TgeneFAM111AC1865639Gracile bone dysplasia1ORPHANET;UNIPROT