ENST00000706817.1 SACM1L
Information
- Transcript ID
- ENST00000706817.1
- Genome
- hg38
- Position
- chr3:45,689,431-45,745,411
- Strand
- +
- CDS length
- 912
- Amino acid length
- 304
- Gene symbol
- SACM1L
- Gene type
- protein-coding
- Gene description
- SAC1 like phosphatidylinositide phosphatase
- Gene Entrez Gene ID
- 22908
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| 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 | : |
|
| 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 | 45,689,431 | 45,689,497 |
| 2 | 45,722,000 | 45,722,085 |
| 3 | 45,722,869 | 45,722,955 |
| 4 | 45,723,475 | 45,723,543 |
| 5 | 45,731,301 | 45,731,380 |
| 6 | 45,732,053 | 45,732,151 |
| 7 | 45,735,235 | 45,735,373 |
| 8 | 45,737,583 | 45,737,652 |
| 9 | 45,737,772 | 45,737,844 |
| 10 | 45,738,578 | 45,738,671 |
| 11 | 45,738,781 | 45,738,873 |
| 12 | 45,739,587 | 45,739,644 |
| 13 | 45,743,533 | 45,745,411 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 4 | CDS | 45,723,475 | 45,723,543 |
| 5 | CDS | 45,731,301 | 45,731,380 |
| 6 | CDS | 45,732,053 | 45,732,151 |
| 7 | CDS | 45,735,235 | 45,735,373 |
| 8 | CDS | 45,737,583 | 45,737,652 |
| 9 | CDS | 45,737,772 | 45,737,844 |
| 10 | CDS | 45,738,578 | 45,738,671 |
| 11 | CDS | 45,738,781 | 45,738,873 |
| 12 | CDS | 45,739,587 | 45,739,644 |
| 13 | CDS | 45,743,533 | 45,743,669 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr3 | 45,730,923 | 45,786,903 | Link |
CDS sequence
ATGGACGGTTTCCAAAGGCATTTTGATTCCCAAGTAATTATTTATGGAAAACAAGTTATAATCAATCTGATTAACCAGAAGGGCTCGGAGAAGCCACTTGAGCAGACATTTGCAACAATGGTGTCTTCCTTGGGAAGTGGAATGATGAGATACATTGCCTTTGACTTCCATAAGGAATGTAAAAATATGAGATGGGATCGACTAAGTATTTTATTGGATCAGGTAGCAGAAATGCAAGATGAATTAAGTTATTTTCTAGTGGACTCTGCTGGCCAGGTGGTGGCAAACCAGGAAGGCGTGTTCCGAAGCAATTGCATGGATTGTCTAGATAGAACCAATGTGATCCAGAGTTTGTTAGCTCGTCGTTCACTTCAGGCCCAACTTCAGAGACTAGGAGTTTTGCATGTGGGACAAAAGCTTGAAGAACAAGATGAATTTGAGAAGATTTACAAAAATGCCTGGGCTGACAACGCAAATGCTTGTGCCAAGCAATATGCGGGAACTGGTGCCTTGAAGACTGACTTTACCAGAACTGGAAAGAGAACTCATTTGGGACTTATAATGGATGGCTGGAACTCAATGATACGATATTATAAGAACAACTTTTCCGATGGATTTAGACAAGATTCCATAGACTTATTTCTTGGAAACTATTCAGTGGATGAATTAGAATCTCATAGTCCTTTAAGTGTTCCAAGGGACTGGAAATTCCTGGCTTTGCCTATTATCATGGTTGTTGCCTTTTCAATGTGCATTATCTGTTTGCTTATGGCTGGTGACACTTGGACAGAAACACTGGCCTATGTGCTCTTCTGGGGAGTTGCAAGCATTGGAACATTTTTTATCATTCTTTACAATGGCAAAGATTTTGTCGATGCTCCCAGACTGGTCCAGAAAGAAAAGATAGACTGA
Amino sequence
MDGFQRHFDSQVIIYGKQVIINLINQKGSEKPLEQTFATMVSSLGSGMMRYIAFDFHKECKNMRWDRLSILLDQVAEMQDELSYFLVDSAGQVVANQEGVFRSNCMDCLDRTNVIQSLLARRSLQAQLQRLGVLHVGQKLEEQDEFEKIYKNAWADNANACAKQYAGTGALKTDFTRTGKRTHLGLIMDGWNSMIRYYKNNFSDGFRQDSIDLFLGNYSVDELESHSPLSVPRDWKFLALPIIMVVAFSMCIICLLMAGDTWTETLAYVLFWGVASIGTFFIILYNGKDFVDAPRLVQKEKID*