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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: 1285

FusionGeneSummary for AK1_ST6GALNAC4

check button Fusion gene summary
Fusion gene informationFusion gene name: AK1_ST6GALNAC4
Fusion gene ID: 1285
HgeneTgene
Gene symbol

AK1

ST6GALNAC4

Gene ID

203

27090

Gene nameadenylate kinase 1ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
SynonymsHTL-S-58jIV|SIAT3-C|SIAT3C|SIAT7-D|SIAT7D|ST6GALNACIV|ST6GalNAc
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionadenylate kinase isoenzyme 1ATP-AMP transphosphorylase 1ATP:AMP phosphotransferaseadenylate monophosphate kinasemyokinasetestis secretory sperm binding protein Li 58jalpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferaseNeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferaseNeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransfer
Modification date2018051920180523
UniProtAcc

P00568

Q9H4F1

Ensembl transtripts involved in fusion geneENST00000373176, ENST00000373156, 
ENST00000223836, 
ENST00000335791, 
ENST00000343609, ENST00000495983, 
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: AK1 [Title/Abstract] AND ST6GALNAC4 [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
HgeneAK1

GO:0006165

nucleoside diphosphate phosphorylation

23416111

HgeneAK1

GO:0009142

nucleoside triphosphate biosynthetic process

23416111


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
TCGALDLUSCTCGA-90-7769-01AAK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
* 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
In-frameENST00000373176ENST00000335791AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
In-frameENST00000373176ENST00000343609AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
5CDS-5UTRENST00000373176ENST00000495983AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
Frame-shiftENST00000373156ENST00000335791AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
Frame-shiftENST00000373156ENST00000343609AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
5CDS-5UTRENST00000373156ENST00000495983AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
In-frameENST00000223836ENST00000335791AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
In-frameENST00000223836ENST00000343609AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-
5CDS-5UTRENST00000223836ENST00000495983AK1chr9

130634102

-ST6GALNAC4chr9

130674617

-

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FusionProtFeatures for AK1_ST6GALNAC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AK1

P00568

ST6GALNAC4

Q9H4F1

Catalyzes the reversible transfer of the terminalphosphate group between ATP and AMP. Also displays broadnucleoside diphosphate kinase activity. Plays an important role incellular energy homeostasis and in adenine nucleotide metabolism.{ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111}. Involved in the biosynthesis of ganglioside GD1A fromGM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAcresidue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteinsand glycolipids. Prefers glycoproteins to glycolipids (Bysimilarity). {ECO:0000250}.

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
HgeneAK1chr9:130634102chr9:130674617ENST00000373156-5718_23108195Nucleotide bindingATP
HgeneAK1chr9:130634102chr9:130674617ENST00000373156-5765_67108195Nucleotide bindingAMP
HgeneAK1chr9:130634102chr9:130674617ENST00000373156-5794_97108195Nucleotide bindingAMP
HgeneAK1chr9:130634102chr9:130674617ENST00000373176-5718_23108195Nucleotide bindingATP
HgeneAK1chr9:130634102chr9:130674617ENST00000373176-5765_67108195Nucleotide bindingAMP
HgeneAK1chr9:130634102chr9:130674617ENST00000373176-5794_97108195Nucleotide bindingAMP
HgeneAK1chr9:130634102chr9:130674617ENST00000373156-5738_67108195RegionNMPbind
HgeneAK1chr9:130634102chr9:130674617ENST00000373176-5738_67108195RegionNMPbind
TgeneST6GALNAC4chr9:130634102chr9:130674617ENST00000335791-061_6-92303Topological domainCytoplasmic
TgeneST6GALNAC4chr9:130634102chr9:130674617ENST00000335791-0628_302-92303Topological domainLumenal
TgeneST6GALNAC4chr9:130634102chr9:130674617ENST00000335791-067_27-92303TransmembraneHelical%3B Signal-anchor for type II membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAK1chr9:130634102chr9:130674617ENST00000373156-57131_141108195RegionLID
HgeneAK1chr9:130634102chr9:130674617ENST00000373176-57131_141108195RegionLID


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FusionGeneSequence for AK1_ST6GALNAC4


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 AK1_ST6GALNAC4


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
AK1KMT2C, FHL2, TRIM63, BRD4, TERF1, TERF2IP, TINF2, APP, IDH1, NXF1, DECR1, MRE11A, SLC12A2, TIA1, OGT, SUCLG2, CD2BP2, COBLL1, RAB11FIP2, GEMIN5, PCF11, NBAS, KDM3B, BUD13, CIRH1A, B3GALTLST6GALNAC4BAG3, SPATA20, MOV10, NXF1, KLRG2, VTN


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 AK1_ST6GALNAC4


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 AK1_ST6GALNAC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAK1C2675459Adenylate Kinase Deficiency, Hemolytic Anemia Due To3CTD_human;ORPHANET;UNIPROT
HgeneAK1C0151744Myocardial Ischemia1CTD_human
HgeneAK1C0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human