FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 3158

FusionGeneSummary for ATG12_SLC17A5

check button Fusion gene summary
Fusion gene informationFusion gene name: ATG12_SLC17A5
Fusion gene ID: 3158
HgeneTgene
Gene symbol

ATG12

SLC17A5

Gene ID

9140

26503

Gene nameautophagy related 12solute carrier family 17 member 5
SynonymsAPG12|APG12L|FBR93|HAPG12AST|ISSD|NSD|SD|SIALIN|SIASD|SLD
Cytomap

5q22.3

6q13

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-like protein ATG12APG12 autophagy 12-likeATG12 autophagy related 12 homologApg12 (autophagy, yeast) homologsialinH(+)/nitrate cotransporterH(+)/sialic acid cotransportermembrane glycoprotein HP59sialic acid storage diseasesodium/sialic acid cotransportersolute carrier family 17 (acidic sugar transporter), member 5solute carrier family 17 (anion/sugar tr
Modification date2018052320180523
UniProtAcc

O94817

Q9NRA2

Ensembl transtripts involved in fusion geneENST00000274459, ENST00000509910, 
ENST00000500945, ENST00000509598, 
ENST00000355773, ENST00000393019, 
ENST00000481996, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: ATG12 [Title/Abstract] AND SLC17A5 [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
TgeneSLC17A5

GO:0015739

sialic acid transport

10581036


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
ChiTaRS3.1BP386219ATG12chr5

115167051

+SLC17A5chr6

74303432

-
* 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-3UTRENST00000274459ENST00000355773ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000274459ENST00000393019ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000274459ENST00000481996ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-3UTRENST00000509910ENST00000355773ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000509910ENST00000393019ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000509910ENST00000481996ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-3UTRENST00000500945ENST00000355773ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000500945ENST00000393019ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000500945ENST00000481996ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-3UTRENST00000509598ENST00000355773ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000509598ENST00000393019ATG12chr5

115167051

+SLC17A5chr6

74303432

-
intron-intronENST00000509598ENST00000481996ATG12chr5

115167051

+SLC17A5chr6

74303432

-

Top

FusionProtFeatures for ATG12_SLC17A5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATG12

O94817

SLC17A5

Q9NRA2

Ubiquitin-like protein involved in autophagy vesiclesformation. Conjugation with ATG5 through a ubiquitin-likeconjugating system involving also ATG7 as an E1-like activatingenzyme and ATG10 as an E2-like conjugating enzyme, is essentialfor its function. The ATG12-ATG5 conjugate acts as an E3-likeenzyme which is required for lipidation of ATG8 family proteinsand their association to the vesicle membranes.{ECO:0000269|PubMed:12207896, ECO:0000269|PubMed:17999726,ECO:0000269|PubMed:19074260, ECO:0000269|PubMed:19164948,ECO:0000269|PubMed:23202584}. (Microbial infection) May act as a proviral factor. Inassociation with ATG5, negatively regulates the innate antiviralimmune response by impairing the type I IFN production pathwayupon vesicular stomatitis virus (VSV) infection (PubMed:17709747).Required for the translation of incoming hepatitis C virus (HCV)RNA and, thereby, for the initiation of HCV replication, but notrequired once infection is established (PubMed:19666601).{ECO:0000269|PubMed:17709747, ECO:0000269|PubMed:19666601}. Transports glucuronic acid and free sialic acid out ofthe lysosome after it is cleaved from sialoglycoconjugatesundergoing degradation, this is required for normal CNSmyelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-likemicrovesicles. Also functions as an electrogenic 2NO(3)(-)/H(+)cotransporter in the plasma membrane of salivary gland acinarcells, mediating the physiological nitrate efflux, 25% of thecirculating nitrate ions is typically removed and secreted insaliva. {ECO:0000269|PubMed:10581036, ECO:0000269|PubMed:11751519,ECO:0000269|PubMed:15510212, ECO:0000269|PubMed:21781115,ECO:0000269|PubMed:22778404}.

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


Top

FusionGeneSequence for ATG12_SLC17A5


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).

Top

FusionGenePPI for ATG12_SLC17A5


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


Top

RelatedDrugs for ATG12_SLC17A5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ATG12_SLC17A5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC17A5C1096903Sialic Acid Storage Disease, Finnish Type (disorder)4ORPHANET;UNIPROT
TgeneSLC17A5C1096902Infantile Sialic Acid Storage Disease2UNIPROT
TgeneSLC17A5C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneSLC17A5C0025202melanoma1CTD_human