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: 12146

FusionGeneSummary for ETNK1_CMAS

check button Fusion gene summary
Fusion gene informationFusion gene name: ETNK1_CMAS
Fusion gene ID: 12146
HgeneTgene
Gene symbol

ETNK1

CMAS

Gene ID

55500

55907

Gene nameethanolamine kinase 1cytidine monophosphate N-acetylneuraminic acid synthetase
SynonymsEKI|EKI 1|EKI1|Nbla10396CSS
Cytomap

12p12.1

12p12.1

Type of geneprotein-codingprotein-coding
Descriptionethanolamine kinase 1putative protein product of Nbla10396N-acylneuraminate cytidylyltransferaseCMP-N-acetylneuraminic acid synthaseCMP-N-acetylneuraminic acid synthetaseCMP-Neu5Ac synthetaseCMP-NeuNAc synthaseCMP-NeuNAc synthetaseCMP-sialic acid synthetasecytidine 5'-monophosphate N-acetylneuraminic acid
Modification date2018051920180523
UniProtAcc

Q9HBU6

Q8NFW8

Ensembl transtripts involved in fusion geneENST00000266517, ENST00000335148, 
ENST00000229329, 
Fusion gene scores* DoF score8 X 6 X 6=2887 X 5 X 4=140
# samples 97
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETNK1 [Title/Abstract] AND CMAS [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
HgeneETNK1

GO:0006646

phosphatidylethanolamine biosynthetic process

11044454


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
TCGARVLUSCTCGA-77-8143-01AETNK1chr12

22812088

+CMASchr12

22208083

+
* 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-frameENST00000266517ENST00000229329ETNK1chr12

22812088

+CMASchr12

22208083

+
intron-3CDSENST00000335148ENST00000229329ETNK1chr12

22812088

+CMASchr12

22208083

+

Top

FusionProtFeatures for ETNK1_CMAS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETNK1

Q9HBU6

CMAS

Q8NFW8

Highly specific for ethanolamine phosphorylation. May bea rate-controlling step in phosphatidylethanolamine biosynthesis. Catalyzes the activation of N-acetylneuraminic acid(NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid(CMP-NeuNAc), a substrate required for the addition of sialicacid. Has some activity toward NeuNAc, N-glycolylneuraminic acid(Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).

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
HgeneETNK1chr12:22812088chr12:22208083ENST00000266517+3873_83274453Compositional biasNote=Poly-Val
TgeneCMASchr12:22812088chr12:22208083ENST00000229329+08200_20686435MotifNote=BC2 motif
TgeneCMASchr12:22812088chr12:22208083ENST00000229329+08269_27686435MotifNote=BC3 motif

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETNK1chr12:22812088chr12:22208083ENST00000335148+1373_83-8259Compositional biasNote=Poly-Val
TgeneCMASchr12:22812088chr12:22208083ENST00000229329+0815_3186435MotifNote=BC1 motif


Top

FusionGeneSequence for ETNK1_CMAS


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.
>In-frame_ETNK1_ENST00000266517_chr12_22812088_+_CMAS_ENST00000229329_chr12_22208083_+_623aa
MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGTEGSTSLSAPAVLVVAVAVVVVVVSAVAWAM
ANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTLQLFTDGITNKLIGCYVGNTMEDVVLVRIYGNKTELLVDRD
EEVKSFRVLQAHGCAPQLYCTFNNGLCYEFIQGEALDPKHVCNPAIFRLIARQLAKIHAIHAHNGWIPKSNLWLKMGKYFSLIPTGFADE
DINKSVWVSTDHDEIENVAKQFGAQVHRRSSEVSKDSSTSLDAIIEFLNYHNEVDIVGNIQATSPCLHPTDLQKVAEMIREEGYDSVFSV
VRRHQFRWSEIQKGVREVTEPLNLNPAKRPRRQDWDGELYENGSFYFAKRHLIEMGYLQGGKMAYYEMRAEHSVDIDVDIDWPIAEQRVL
RYGYFGKEKLKEIKLLVCNIDGCLTNGHIYVSGDQKEIISYDVKDAIGISLLKKSGIEVRLISERACSKQTLSSLKLDCKMEVSVSDKLA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ETNK1_ENST00000266517_chr12_22812088_+_CMAS_ENST00000229329_chr12_22208083_+_1869nt
ATGCTCTGCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCAGTTCAGCTGCTGTCCAGACCCGG
ATCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCCTCCCGCGAGGGCGCCCCGGGACG
GAAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAGTCTCCGCCGTCGCCTGGGCCATG
GCCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATCAGGAGGAGCATCGCTGCCGGGAG
GGGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAGCTCTTCACAGATGGAATCACAAATAAA
CTTATTGGCTGTTACGTGGGAAACACCATGGAGGATGTAGTCCTGGTGAGAATTTATGGCAATAAGACTGAGTTATTAGTCGATCGAGAT
GAGGAAGTAAAGAGTTTTCGAGTGTTGCAGGCTCATGGGTGTGCACCACAACTCTACTGTACCTTCAATAATGGACTATGCTATGAATTT
ATACAAGGAGAAGCACTGGATCCAAAGCATGTCTGCAACCCAGCCATTTTCAGGCTAATAGCTCGTCAGCTTGCTAAAATCCATGCTATT
CATGCACACAATGGCTGGATCCCCAAATCTAATCTTTGGCTAAAGATGGGAAAGTATTTCTCTCTCATTCCCACAGGATTTGCAGATGAA
GACATTAATAAAAGTGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTGGCCAAACAATTTGGTGCACAAGTTCATCGAAGAAGT
TCTGAAGTTTCAAAAGACAGCTCTACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATGAGGTTGACATTGTAGGAAATATT
CAAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATGATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTT
GTGAGACGCCATCAGTTTCGATGGAGTGAAATTCAGAAAGGAGTTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAACGGCCT
CGTCGACAAGACTGGGATGGAGAATTATATGAAAATGGCTCATTTTATTTTGCTAAAAGACATTTGATAGAGATGGGTTACTTGCAGGGT
GGAAAAATGGCATACTACGAAATGCGAGCTGAACATAGTGTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGAGTATTA
AGATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGCAATATTGATGGATGTCTCACCAATGGCCACATTTAT
GTATCAGGAGACCAAAAAGAAATAATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAGAAAAGTGGTATTGAGGTGAGG
CTAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGATTGCAAAATGGAAGTCAGTGTATCAGACAAGCTAGCA
GTTGTAGATGAATGGAGAAAAGAAATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTGGAAATGAAGTGTCTGATGAAGAGTGCTTGAAG
AGAGTGGGCCTAAGTGGCGCTCCTGCTGATGCCTGTTCTACTGCCCAGAAGGCTGTTGGATACATTTGCAAATGTAATGGTGGCCGTGGT


* Fusion transcript sequences (Full-length transcript).
>In-frame_ETNK1_ENST00000266517_chr12_22812088_+_CMAS_ENST00000229329_chr12_22208083_+_2310nt
GTGACCGGAGGCGAGAAACCCCGCCTCGGCACCCTGACGCAGCGCAGGACCCGCCCCGCGCGTGACGCCAGCGTCAGGCCAGCCCCGGCA
TGCTCTGCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCAGTTCAGCTGCTGTCCAGACCCGGA
TCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCCTCCCGCGAGGGCGCCCCGGGACGG
AAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAGTCTCCGCCGTCGCCTGGGCCATGG
CCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATCAGGAGGAGCATCGCTGCCGGGAGG
GGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAGCTCTTCACAGATGGAATCACAAATAAAC
TTATTGGCTGTTACGTGGGAAACACCATGGAGGATGTAGTCCTGGTGAGAATTTATGGCAATAAGACTGAGTTATTAGTCGATCGAGATG
AGGAAGTAAAGAGTTTTCGAGTGTTGCAGGCTCATGGGTGTGCACCACAACTCTACTGTACCTTCAATAATGGACTATGCTATGAATTTA
TACAAGGAGAAGCACTGGATCCAAAGCATGTCTGCAACCCAGCCATTTTCAGGCTAATAGCTCGTCAGCTTGCTAAAATCCATGCTATTC
ATGCACACAATGGCTGGATCCCCAAATCTAATCTTTGGCTAAAGATGGGAAAGTATTTCTCTCTCATTCCCACAGGATTTGCAGATGAAG
ACATTAATAAAAGTGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTGGCCAAACAATTTGGTGCACAAGTTCATCGAAGAAGTT
CTGAAGTTTCAAAAGACAGCTCTACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATGAGGTTGACATTGTAGGAAATATTC
AAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATGATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTTG
TGAGACGCCATCAGTTTCGATGGAGTGAAATTCAGAAAGGAGTTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAACGGCCTC
GTCGACAAGACTGGGATGGAGAATTATATGAAAATGGCTCATTTTATTTTGCTAAAAGACATTTGATAGAGATGGGTTACTTGCAGGGTG
GAAAAATGGCATACTACGAAATGCGAGCTGAACATAGTGTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGAGTATTAA
GATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGCAATATTGATGGATGTCTCACCAATGGCCACATTTATG
TATCAGGAGACCAAAAAGAAATAATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAGAAAAGTGGTATTGAGGTGAGGC
TAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGATTGCAAAATGGAAGTCAGTGTATCAGACAAGCTAGCAG
TTGTAGATGAATGGAGAAAAGAAATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTGGAAATGAAGTGTCTGATGAAGAGTGCTTGAAGA
GAGTGGGCCTAAGTGGCGCTCCTGCTGATGCCTGTTCTACTGCCCAGAAGGCTGTTGGATACATTTGCAAATGTAATGGTGGCCGTGGTG
CCATCCGAGAATTTGCAGAGCACATTTGCCTACTAATGGAAAAGGTTAATAATTCATGCCAAAAATAGAAATTAGCGTAATATTGAGAAA
AAAATGATACAGCCTTCTTCAGCCAGTTTGCTTTTATTTTTGATTAAGTAAATTCCATGTTGTAATGTTACAGAGAGTGTGATTTGGTTT
GTGATATATATATATTGTGCTCTACTTTTCTCTTTACGCAAGATAATTATTTAGAGACTGATTACAGTCTTTCTCAGATTTTTAGTAAAT
GCAAGTAAGAACATCATCAAAGTTCACTTTGTATTGTACCCTGTAAAACTGTGTGTTTGTGTGCTTTCAAAGATGTTGGGATTTTATTTA


Top

FusionGenePPI for ETNK1_CMAS


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
ETNK1UBQLN1, ACAD10, PNLIP, NASP, WDTC1, LRRN2, CCRN4L, SLC18A1, NAPRT, EVA1CCMASAPP, FBXO6, BRCA1, FGL1, LIMS1, LUC7L, DBNL, COG3, FIG4, NAA10, DDB1, NAA15, HIST1H2BG, HIST1H3A, RC3H1, CHCHD10, FAM98A


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 ETNK1_CMAS


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 ETNK1_CMAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETNK1C3495559Juvenile arthritis1CTD_human