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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: 14331

FusionGeneSummary for GALNT3_TTC21B

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT3_TTC21B
Fusion gene ID: 14331
HgeneTgene
Gene symbol

GALNT3

TTC21B

Gene ID

2591

79809

Gene namepolypeptide N-acetylgalactosaminyltransferase 3tetratricopeptide repeat domain 21B
SynonymsGalNAc-T3|HFTC|HHSATD4|IFT139|IFT139B|JBTS11|NPHP12|Nbla10696|SRTD4|THM1
Cytomap

2q24.3

2q24.3

Type of geneprotein-codingprotein-coding
Descriptionpolypeptide N-acetylgalactosaminyltransferase 3GalNAc transferase 3UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)polypeptide GalNAc transferase 3tetratricopeptide repeat protein 21BTPR repeat protein 21Bintraflagellar transport 139 homologputative protein product of Nbla10696
Modification date2018052320180523
UniProtAcc

Q14435

Q7Z4L5

Ensembl transtripts involved in fusion geneENST00000392701, ENST00000409882, 
ENST00000489714, ENST00000536175, 
ENST00000243344, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: GALNT3 [Title/Abstract] AND TTC21B [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
HgeneGALNT3

GO:0018242

protein O-linked glycosylation via serine

9295285

HgeneGALNT3

GO:0018243

protein O-linked glycosylation via threonine

9295285|16638743


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
TCGARVPRADTCGA-V1-A9Z8-01AGALNT3chr2

166650525

-TTC21Bchr2

166758420

-
* 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
5UTR-intronENST00000392701ENST00000489714GALNT3chr2

166650525

-TTC21Bchr2

166758420

-
5UTR-intronENST00000392701ENST00000536175GALNT3chr2

166650525

-TTC21Bchr2

166758420

-
5UTR-intronENST00000392701ENST00000243344GALNT3chr2

166650525

-TTC21Bchr2

166758420

-
intron-intronENST00000409882ENST00000489714GALNT3chr2

166650525

-TTC21Bchr2

166758420

-
intron-intronENST00000409882ENST00000536175GALNT3chr2

166650525

-TTC21Bchr2

166758420

-
intron-intronENST00000409882ENST00000243344GALNT3chr2

166650525

-TTC21Bchr2

166758420

-

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FusionProtFeatures for GALNT3_TTC21B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GALNT3

Q14435

TTC21B

Q7Z4L5

Catalyzes the initial reaction in O-linkedoligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on theprotein receptor. Has activity toward HIV envelope glycoproteingp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin invivo. Glycosylates FGF23. Plays a central role in phosphatehomeostasis. {ECO:0000269|PubMed:16638743,ECO:0000269|PubMed:9295285}.

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 GALNT3_TTC21B


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 GALNT3_TTC21B


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
GALNT3APPBP2, MAPK8IP2, RSPRY1TTC21BSPACA1, DOC2A, KRAS, IFT43, TULP3, IFT122, IFT140, WDR19, VCL, WDR35, EIF3L, PRPF31, CCDC40


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 GALNT3_TTC21B


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 GALNT3_TTC21B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGALNT3C0006663Calcinosis1CTD_human
HgeneGALNT3C0033578Prostatic Neoplasms1CTD_human
HgeneGALNT3C0085681Hyperphosphatemia (disorder)1CTD_human
TgeneTTC21BC3151186NEPHRONOPHTHISIS 122UNIPROT
TgeneTTC21BC0022658Kidney Diseases1CTD_human
TgeneTTC21BC0236969Substance-Related Disorders1CTD_human
TgeneTTC21BC0265275Jeune thoracic dystrophy1CTD_human;ORPHANET
TgeneTTC21BC2936862Bardet-Biedl syndrome 1 (disorder)1UNIPROT
TgeneTTC21BC3151185SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY1UNIPROT