PPCDC phosphopantothenoylcysteine decarboxylase
Information
- Symbol
- PPCDC
- Type
- protein-coding
- Description
- phosphopantothenoylcysteine decarboxylase
- Entrez Gene ID
- 60490
- Genome
- hg19
- Position
- chr15:75,315,931-75,343,067
- Genome
- hg38
- Position
- chr15:75,023,590-75,050,726
- MIM
- 609854 OMIM
- HGNC
- HGNC:28107 HGNC
- Ensembl
- ENSG00000138621 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 8 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
36 |
 |
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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| Category | : |
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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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| Search word | : | |
| 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 | MDS018 |
| SYNONYM | PPC-DC |
| SYNONYM | coaC |
| MIM | 609854 OMIM |
| HGNC | HGNC:28107 HGNC |
| Ensembl | ENSG00000138621 Ensembl |
| AllianceGenome | HGNC:28107 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000563393.1 | hg38 | chr15 | 75,043,275 | 75,049,738 | 6,464 |
| ENST00000568649.5 | hg38 | chr15 | 75,023,605 | 75,049,581 | 25,977 |
| ENST00000567336.1 | hg38 | chr15 | 75,028,249 | 75,049,538 | 21,290 |
| ENST00000342932.8 | hg38 | chr15 | 75,023,590 | 75,050,726 | 27,137 |
| ENST00000564923.5 | hg38 | chr15 | 75,023,587 | 75,049,490 | 25,904 |
| ENST00000564923.5 | hg19 | chr15 | 75,315,928 | 75,341,831 | 25,904 |
| ENST00000342932.8 | hg19 | chr15 | 75,315,931 | 75,343,067 | 27,137 |
| ENST00000568649.5 | hg19 | chr15 | 75,315,946 | 75,341,922 | 25,977 |
| ENST00000567336.1 | hg19 | chr15 | 75,320,590 | 75,341,879 | 21,290 |
| ENST00000563393.1 | hg19 | chr15 | 75,335,616 | 75,342,079 | 6,464 |
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