MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1
Information
- Symbol
- MAP4K1
- Type
- protein-coding
- Description
- mitogen-activated protein kinase kinase kinase kinase 1
- Entrez Gene ID
- 11184
- Genome
- hg19
- Position
- chr19:39,078,281-39,108,564
- Genome
- hg38
- Position
- chr19:38,587,641-38,617,924
- MIM
- 601983 OMIM
- HGNC
- HGNC:6863 HGNC
- Ensembl
- ENSG00000104814 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 52 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
62 |
 |
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 | HPK1 |
| MIM | 601983 OMIM |
| HGNC | HGNC:6863 HGNC |
| Ensembl | ENSG00000104814 Ensembl |
| AllianceGenome | HGNC:6863 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000396857.7 | hg38 | chr19 | 38,587,641 | 38,617,953 | 30,313 |
| ENST00000586296.5 | hg38 | chr19 | 38,587,644 | 38,617,966 | 30,323 |
| ENST00000591517.5 | hg38 | chr19 | 38,587,641 | 38,617,924 | 30,284 |
| ENST00000589130.5 | hg38 | chr19 | 38,587,646 | 38,618,882 | 31,237 |
| ENST00000591517.5 | hg19 | chr19 | 39,078,281 | 39,108,564 | 30,284 |
| ENST00000396857.7 | hg19 | chr19 | 39,078,281 | 39,108,593 | 30,313 |
| ENST00000586296.5 | hg19 | chr19 | 39,078,284 | 39,108,606 | 30,323 |
| ENST00000589130.5 | hg19 | chr19 | 39,078,286 | 39,109,522 | 31,237 |
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