ENST00000423172.6 MPDU1
Information
- Transcript ID
- ENST00000423172.6
- Genome
- hg38
- Position
- chr17:7,583,853-7,592,789
- Strand
- +
- CDS length
- 561
- Amino acid length
- 187
- Gene symbol
- MPDU1
- Gene type
- protein-coding
- Gene description
- mannose-P-dolichol utilization defect 1
- Gene Entrez Gene ID
- 9526
Variants
Display target variant
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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| Category | : |
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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
|
| Category | : |
|
| 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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 1 | 7,583,853 | 7,583,965 |
| 2 | 7,585,732 | 7,585,797 |
| 3 | 7,585,946 | 7,586,078 |
| 4 | 7,586,899 | 7,587,017 |
| 5 | 7,587,161 | 7,587,271 |
| 6 | 7,592,444 | 7,592,789 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 7,583,863 | 7,583,965 |
| 2 | CDS | 7,585,732 | 7,585,797 |
| 3 | CDS | 7,585,946 | 7,586,078 |
| 4 | CDS | 7,586,899 | 7,587,017 |
| 5 | CDS | 7,587,161 | 7,587,271 |
| 6 | CDS | 7,592,444 | 7,592,472 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr17 | 7,487,171 | 7,496,107 | Link |
CDS sequence
ATGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAGAAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGGGTGAGCATCCCATTCTCTCAGCTCTGA
Amino sequence
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFRCRFPRLLRPGPAGASLTSDALDCSHPAPGLQCACCGGGEASPGSHQLPQRAHRPALSHHSLPAVWGLPGPNLHFHSGVSIPFSQL*