AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Information
- Symbol
- AASDHPPT
- Type
- protein-coding
- Description
- aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
- Entrez Gene ID
- 60496
- Genome
- hg19
- Position
- chr11:105,948,389-105,969,422
- Genome
- hg38
- Position
- chr11:106,077,662-106,098,695
- MIM
- 607756 OMIM
- HGNC
- HGNC:14235 HGNC
- Ensembl
- ENSG00000149313 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 44 |
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
[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 | |||||||||||
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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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| 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 | AASD-PPT |
| SYNONYM | ACPS |
| SYNONYM | CGI-80 |
| SYNONYM | LYS2 |
| SYNONYM | LYS5 |
| MIM | 607756 OMIM |
| HGNC | HGNC:14235 HGNC |
| Ensembl | ENSG00000149313 Ensembl |
| AllianceGenome | HGNC:14235 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000278618.9 | hg38 | chr11 | 106,077,662 | 106,098,695 | 21,034 |
| ENST00000278618.9 | hg19 | chr11 | 105,948,389 | 105,969,422 | 21,034 |
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