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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: 4847

FusionGeneSummary for C1orf123_ALG6

check button Fusion gene summary
Fusion gene informationFusion gene name: C1orf123_ALG6
Fusion gene ID: 4847
HgeneTgene
Gene symbol

C1orf123

ALG6

Gene ID

54987

29929

Gene namechromosome 1 open reading frame 123ALG6, alpha-1,3-glucosyltransferase
Synonyms-CDG1C
Cytomap

1p32.3

1p31.3

Type of geneprotein-codingprotein-coding
DescriptionUPF0587 protein C1orf123dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferaseMan(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferaseasparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)asparagine-linked glycosylation 6 homolog (yeast
Modification date2018051920180523
UniProtAcc

Q9NWV4

Q9Y672

Ensembl transtripts involved in fusion geneENST00000294360, ENST00000470385, 
ENST00000371108, ENST00000263440, 
ENST00000494765, 
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: C1orf123 [Title/Abstract] AND ALG6 [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
TgeneALG6

GO:0006487

protein N-linked glycosylation

10924277


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
TCGARVBRCATCGA-B6-A409-01AC1orf123chr1

53685933

-ALG6chr1

63862184

+
* 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
Frame-shiftENST00000294360ENST00000371108C1orf123chr1

53685933

-ALG6chr1

63862184

+
Frame-shiftENST00000294360ENST00000263440C1orf123chr1

53685933

-ALG6chr1

63862184

+
5CDS-intronENST00000294360ENST00000494765C1orf123chr1

53685933

-ALG6chr1

63862184

+
5UTR-3CDSENST00000470385ENST00000371108C1orf123chr1

53685933

-ALG6chr1

63862184

+
5UTR-3CDSENST00000470385ENST00000263440C1orf123chr1

53685933

-ALG6chr1

63862184

+
5UTR-intronENST00000470385ENST00000494765C1orf123chr1

53685933

-ALG6chr1

63862184

+

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FusionProtFeatures for C1orf123_ALG6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C1orf123

Q9NWV4

ALG6

Q9Y672

Adds the first glucose residue to the lipid-linkedoligosaccharide precursor for N-linked glycosylation. Transfersglucose from dolichyl phosphate glucose (Dol-P-Glc) onto thelipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.

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 C1orf123_ALG6


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 C1orf123_ALG6


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
C1orf123ANXA1, CRIPT, DNAJC17, IBA57, MANF, UBA6, HYOU1, PRPF19, VAMP4ALG6TMEM171, PTH1R, PTGFR, GNAI3, ZACN, LPAR1, TCTN3, CD97, SCN3B, DPEP1


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 C1orf123_ALG6


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 C1orf123_ALG6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneALG6C2930997Congenital disorder of glycosylation type 1C5CTD_human;ORPHANET;UNIPROT