MTERF4 mitochondrial transcription termination factor 4
Information
- Symbol
- MTERF4
- Type
- protein-coding
- Description
- mitochondrial transcription termination factor 4
- Entrez Gene ID
- 130916
- Genome
- hg19
- Position
- chr2:242,034,986-242,041,702
- Genome
- hg38
- Position
- chr2:241,095,571-241,102,287
- MIM
- 615393 OMIM
- HGNC
- HGNC:28785 HGNC
- Ensembl
- ENSG00000122085 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 8 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
44 |
 |
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
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 |
|---|---|
| SYNONYM | MTERFD2 |
| MIM | 615393 OMIM |
| HGNC | HGNC:28785 HGNC |
| Ensembl | ENSG00000122085 Ensembl |
| AllianceGenome | HGNC:28785 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000614476.4 | hg38 | chr2 | 241,087,099 | 241,102,295 | 15,197 |
| ENST00000406593.1 | hg38 | chr2 | 241,095,869 | 241,102,299 | 6,431 |
| ENST00000495694.5 | hg38 | chr2 | 241,089,225 | 241,102,309 | 13,085 |
| ENST00000407095.3 | hg38 | chr2 | 241,097,187 | 241,102,311 | 5,125 |
| ENST00000391980.7 | hg38 | chr2 | 241,095,571 | 241,102,287 | 6,717 |
| ENST00000407095.3 | hg19 | chr2 | 242,036,602 | 242,041,726 | 5,125 |
| ENST00000391980.7 | hg19 | chr2 | 242,034,986 | 242,041,702 | 6,717 |
| ENST00000406593.1 | hg19 | chr2 | 242,035,284 | 242,041,714 | 6,431 |
| ENST00000495694.5 | hg19 | chr2 | 242,028,640 | 242,041,724 | 13,085 |
| ENST00000614476.4 | hg19 | chr2 | 242,026,514 | 242,041,710 | 15,197 |
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