ENST00000392349.9 ORMDL1
Information
- Transcript ID
- ENST00000392349.9
- Genome
- hg38
- Position
- chr2:189,770,267-189,784,339
- Strand
- -
- CDS length
- 462
- Amino acid length
- 154
- Gene symbol
- ORMDL1
- Gene type
- protein-coding
- Gene description
- ORMDL sphingolipid biosynthesis regulator 1
- Gene Entrez Gene ID
- 94101
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 |
|---|---|---|
| 5 | 189,770,267 | 189,771,902 |
| 4 | 189,775,565 | 189,775,716 |
| 3 | 189,782,422 | 189,782,602 |
| 2 | 189,783,014 | 189,783,123 |
| 1 | 189,784,269 | 189,784,339 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 5 | CDS | 189,771,767 | 189,771,902 |
| 4 | CDS | 189,775,565 | 189,775,716 |
| 3 | CDS | 189,782,422 | 189,782,595 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr2 | 190,634,993 | 190,649,065 | Link |
CDS sequence
ATGAACGTTGGAGTTGCCCACAGTGAAGTGAATCCAAATACCCGTGTCATGAACAGCCGGGGTATGTGGCTGACATATGCATTGGGAGTTGGCTTGCTTCATATTGTCTTACTCAGCATTCCCTTCTTCAGTGTTCCTGTTGCTTGGACTTTAACAAATATTATACATAATCTGGGGATGTACGTATTTTTGCATGCAGTGAAAGGAACACCTTTCGAAACTCCTGACCAGGGTAAAGCAAGGCTCCTAACTCATTGGGAACAACTGGACTATGGAGTACAGTTTACATCTTCACGGAAGTTTTTCACAATTTCTCCAATAATTCTATATTTTCTGGCAAGTTTCTATACGAAGTATGATCCAACTCACTTCATCCTAAACACAGCTTCTCTCCTGAGTGTACTAATTCCCAAAATGCCACAACTACATGGTGTTCGGATCTTTGGAATTAATAAGTATTGA
Amino sequence
MNVGVAHSEVNPNTRVMNSRGMWLTYALGVGLLHIVLLSIPFFSVPVAWTLTNIIHNLGMYVFLHAVKGTPFETPDQGKARLLTHWEQLDYGVQFTSSRKFFTISPIILYFLASFYTKYDPTHFILNTASLLSVLIPKMPQLHGVRIFGINKY*