EDF1 endothelial differentiation related factor 1
Information
- Symbol
- EDF1
- Type
- protein-coding
- Description
- endothelial differentiation related factor 1
- Entrez Gene ID
- 8721
- Genome
- hg19
- Position
- chr9:139,756,571-139,760,760
- Genome
- hg38
- Position
- chr9:136,862,119-136,866,308
- MIM
- 605107 OMIM
- HGNC
- HGNC:3164 HGNC
- Ensembl
- ENSG00000107223 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
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 | |||||
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| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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MGeND data only
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| 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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| 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 | CFAP280 |
| SYNONYM | EDF-1 |
| SYNONYM | MBF1 |
| MIM | 605107 OMIM |
| HGNC | HGNC:3164 HGNC |
| Ensembl | ENSG00000107223 Ensembl |
| AllianceGenome | HGNC:3164 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000224073.6 | hg38 | chr9 | 136,862,119 | 136,866,308 | 4,190 |
| ENST00000371648.4 | hg38 | chr9 | 136,862,490 | 136,866,266 | 3,777 |
| ENST00000371649.5 | hg38 | chr9 | 136,862,119 | 136,866,285 | 4,167 |
| ENST00000371649.5 | hg19 | chr9 | 139,756,571 | 139,760,737 | 4,167 |
| ENST00000224073.6 | hg19 | chr9 | 139,756,571 | 139,760,760 | 4,190 |
| ENST00000371648.4 | hg19 | chr9 | 139,756,942 | 139,760,718 | 3,777 |
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