B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
Information
- Symbol
- B3GNT4
- Type
- protein-coding
- Description
- UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
- Entrez Gene ID
- 79369
- Genome
- hg19
- Position
- chr12:122,688,256-122,693,499
- Genome
- hg38
- Position
- chr12:122,203,709-122,208,952
- MIM
- 605864 OMIM
- HGNC
- HGNC:15683 HGNC
- Ensembl
- ENSG00000176383 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 16 |
| Likely benign | 0 | 26 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 68 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
12 |
 |
92 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | B3GN-T4 |
| SYNONYM | beta3Gn-T4 |
| MIM | 605864 OMIM |
| HGNC | HGNC:15683 HGNC |
| Ensembl | ENSG00000176383 Ensembl |
| AllianceGenome | HGNC:15683 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000535274.1 | hg38 | chr12 | 122,204,600 | 122,207,537 | 2,938 |
| ENST00000324189.5 | hg38 | chr12 | 122,203,709 | 122,208,952 | 5,244 |
| ENST00000537991.1 | hg38 | chr12 | 122,203,746 | 122,207,062 | 3,317 |
| ENST00000546192.1 | hg38 | chr12 | 122,203,681 | 122,208,945 | 5,265 |
| ENST00000546192.1 | hg19 | chr12 | 122,688,228 | 122,693,492 | 5,265 |
| ENST00000324189.5 | hg19 | chr12 | 122,688,256 | 122,693,499 | 5,244 |
| ENST00000537991.1 | hg19 | chr12 | 122,688,293 | 122,691,609 | 3,317 |
| ENST00000535274.1 | hg19 | chr12 | 122,689,147 | 122,692,084 | 2,938 |
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