ENST00000396501.8 MPDU1
Information
- Transcript ID
- ENST00000396501.8
- Genome
- hg19
- Position
- chr17:7,487,146-7,491,273
- Strand
- +
- CDS length
- 579
- Amino acid length
- 193
- 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
|
| 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 | 7,487,146 | 7,487,283 |
| 2 | 7,489,050 | 7,489,115 |
| 3 | 7,489,264 | 7,489,396 |
| 4 | 7,490,010 | 7,490,156 |
| 5 | 7,490,479 | 7,490,589 |
| 6 | 7,490,744 | 7,491,273 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 7,487,181 | 7,487,283 |
| 2 | CDS | 7,489,050 | 7,489,115 |
| 3 | CDS | 7,489,264 | 7,489,396 |
| 4 | CDS | 7,490,010 | 7,490,156 |
| 5 | CDS | 7,490,479 | 7,490,589 |
| 6 | CDS | 7,490,744 | 7,490,762 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr17 | 7,583,828 | 7,587,955 | Link |
CDS sequence
ATGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAGAAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGAAACCGGAGATCCCCTGA
Amino sequence
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGAGDLPKSRLCGSWEPCWELSFSRQPPTTTTGTQASSQPSQSSCCLGAPWPESSLPFRKPEIP*