ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase
Information
- Symbol
- ETFBKMT
- Type
- protein-coding
- Description
- electron transfer flavoprotein subunit beta lysine methyltransferase
- Entrez Gene ID
- 254013
- Genome
- hg19
- Position
- chr12:31,812,622-31,826,048
- Genome
- hg38
- Position
- chr12:31,659,688-31,673,114
- MIM
- 615256 OMIM
- HGNC
- HGNC:28739 HGNC
- Ensembl
- ENSG00000139160 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
6 |
 |
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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| 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 |
|---|---|
| HGNC | HGNC:28739 HGNC |
| SYNONYM | C12orf72 |
| SYNONYM | ETFB-KMT |
| SYNONYM | METTL20 |
| MIM | 615256 OMIM |
| Ensembl | ENSG00000139160 Ensembl |
| AllianceGenome | HGNC:28739 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000357721.3 | hg38 | chr12 | 31,659,688 | 31,673,114 | 13,427 |
| ENST00000538391.1 | hg38 | chr12 | 31,661,937 | 31,668,382 | 6,446 |
| ENST00000395763.7 | hg38 | chr12 | 31,659,187 | 31,668,967 | 9,781 |
| ENST00000412352.6 | hg38 | chr12 | 31,647,160 | 31,668,075 | 20,916 |
| ENST00000538463.5 | hg38 | chr12 | 31,659,688 | 31,668,380 | 8,693 |
| ENST00000412352.6 | hg19 | chr12 | 31,800,094 | 31,821,009 | 20,916 |
| ENST00000395763.7 | hg19 | chr12 | 31,812,121 | 31,821,901 | 9,781 |
| ENST00000538463.5 | hg19 | chr12 | 31,812,622 | 31,821,314 | 8,693 |
| ENST00000357721.3 | hg19 | chr12 | 31,812,622 | 31,826,048 | 13,427 |
| ENST00000538391.1 | hg19 | chr12 | 31,814,871 | 31,821,316 | 6,446 |
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