KBTBD4 kelch repeat and BTB domain containing 4
Information
- Symbol
- KBTBD4
- Type
- protein-coding
- Description
- kelch repeat and BTB domain containing 4
- Entrez Gene ID
- 55709
- Genome
- hg19
- Position
- chr11:47,593,750-47,600,341
- Genome
- hg38
- Position
- chr11:47,572,198-47,578,789
- MIM
- 617645 OMIM
- HGNC
- HGNC:23761 HGNC
- Ensembl
- ENSG00000123444 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
48 |
 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | BKLHD4 |
| SYNONYM | HSPC252 |
| MIM | 617645 OMIM |
| HGNC | HGNC:23761 HGNC |
| Ensembl | ENSG00000123444 Ensembl |
| AllianceGenome | HGNC:23761 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000395288.6 | hg38 | chr11 | 47,572,198 | 47,578,969 | 6,772 |
| ENST00000525720.1 | hg38 | chr11 | 47,575,566 | 47,578,768 | 3,203 |
| ENST00000430070.7 | hg38 | chr11 | 47,572,197 | 47,578,970 | 6,774 |
| ENST00000533290.5 | hg38 | chr11 | 47,572,198 | 47,578,789 | 6,592 |
| ENST00000526005.5 | hg38 | chr11 | 47,572,197 | 47,578,956 | 6,760 |
| ENST00000526005.5 | hg19 | chr11 | 47,593,749 | 47,600,508 | 6,760 |
| ENST00000430070.7 | hg19 | chr11 | 47,593,749 | 47,600,522 | 6,774 |
| ENST00000533290.5 | hg19 | chr11 | 47,593,750 | 47,600,341 | 6,592 |
| ENST00000395288.6 | hg19 | chr11 | 47,593,750 | 47,600,521 | 6,772 |
| ENST00000525720.1 | hg19 | chr11 | 47,597,118 | 47,600,320 | 3,203 |
Genome browser