|
Fusion gene ID: 1285 |
FusionGeneSummary for AK1_ST6GALNAC4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: AK1_ST6GALNAC4 | Fusion gene ID: 1285 | Hgene | Tgene | Gene symbol | AK1 | ST6GALNAC4 | Gene ID | 203 | 27090 |
Gene name | adenylate kinase 1 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 | |
Synonyms | HTL-S-58j | IV|SIAT3-C|SIAT3C|SIAT7-D|SIAT7D|ST6GALNACIV|ST6GalNAc | |
Cytomap | 9q34.11 | 9q34.11 | |
Type of gene | protein-coding | protein-coding | |
Description | adenylate kinase isoenzyme 1ATP-AMP transphosphorylase 1ATP:AMP phosphotransferaseadenylate monophosphate kinasemyokinasetestis secretory sperm binding protein Li 58j | alpha-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 date | 20180519 | 20180523 | |
UniProtAcc | P00568 | Q9H4F1 | |
Ensembl transtripts involved in fusion gene | ENST00000373176, ENST00000373156, ENST00000223836, | ENST00000335791, ENST00000343609, ENST00000495983, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | AK1 | GO:0006165 | nucleoside diphosphate phosphorylation | 23416111 |
Hgene | AK1 | GO:0009142 | nucleoside triphosphate biosynthetic process | 23416111 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | LUSC | TCGA-90-7769-01A | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000373176 | ENST00000335791 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
In-frame | ENST00000373176 | ENST00000343609 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
5CDS-5UTR | ENST00000373176 | ENST00000495983 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
Frame-shift | ENST00000373156 | ENST00000335791 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
Frame-shift | ENST00000373156 | ENST00000343609 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
5CDS-5UTR | ENST00000373156 | ENST00000495983 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
In-frame | ENST00000223836 | ENST00000335791 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
In-frame | ENST00000223836 | ENST00000343609 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
5CDS-5UTR | ENST00000223836 | ENST00000495983 | AK1 | chr9 | 130634102 | - | ST6GALNAC4 | chr9 | 130674617 | - |
Top |
FusionProtFeatures for AK1_ST6GALNAC4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
AK1 | ST6GALNAC4 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373156 | - | 5 | 7 | 18_23 | 108 | 195 | Nucleotide binding | ATP |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373156 | - | 5 | 7 | 65_67 | 108 | 195 | Nucleotide binding | AMP |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373156 | - | 5 | 7 | 94_97 | 108 | 195 | Nucleotide binding | AMP |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373176 | - | 5 | 7 | 18_23 | 108 | 195 | Nucleotide binding | ATP |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373176 | - | 5 | 7 | 65_67 | 108 | 195 | Nucleotide binding | AMP |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373176 | - | 5 | 7 | 94_97 | 108 | 195 | Nucleotide binding | AMP |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373156 | - | 5 | 7 | 38_67 | 108 | 195 | Region | NMPbind |
Hgene | AK1 | chr9:130634102 | chr9:130674617 | ENST00000373176 | - | 5 | 7 | 38_67 | 108 | 195 | Region | NMPbind |
Tgene | >ST6GALNAC4 | chr9:130634102 | chr9:130674617 | ENST00000335791 | - | 0 | 6 | 1_6 | -92 | 303 | Topological domain | Cytoplasmic |
Tgene | >ST6GALNAC4 | chr9:130634102 | chr9:130674617 | ENST00000335791 | - | 0 | 6 | 28_302 | -92 | 303 | Topological domain | Lumenal |
Tgene | >ST6GALNAC4 | chr9:130634102 | chr9:130674617 | ENST00000335791 | - | 0 | 6 | 7_27 | -92 | 303 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >AK1 | chr9:130634102 | chr9:130674617 | ENST00000373156 | - | 5 | 7 | 131_141 | 108 | 195 | Region | LID |
Hgene | >AK1 | chr9:130634102 | chr9:130674617 | ENST00000373176 | - | 5 | 7 | 131_141 | 108 | 195 | Region | LID |
Top |
FusionGeneSequence for AK1_ST6GALNAC4 |
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 AK1_ST6GALNAC4 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
AK1 | KMT2C, FHL2, TRIM63, BRD4, TERF1, TERF2IP, TINF2, APP, IDH1, NXF1, DECR1, MRE11A, SLC12A2, TIA1, OGT, SUCLG2, CD2BP2, COBLL1, RAB11FIP2, GEMIN5, PCF11, NBAS, KDM3B, BUD13, CIRH1A, B3GALTL | ST6GALNAC4 | BAG3, SPATA20, MOV10, NXF1, KLRG2, VTN |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for AK1_ST6GALNAC4 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for AK1_ST6GALNAC4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AK1 | C2675459 | Adenylate Kinase Deficiency, Hemolytic Anemia Due To | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | AK1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | AK1 | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |