ENST00000219551.2 RHBDL1
Information
- Transcript ID
- ENST00000219551.2
- Genome
- hg19
- Position
- chr16:726,075-728,268
- Strand
- +
- CDS length
- 1,317
- Amino acid length
- 439
- Gene symbol
- RHBDL1
- Gene type
- protein-coding
- Gene description
- rhomboid like 1
- Gene Entrez Gene ID
- 9028
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| 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 | 726,075 | 726,497 |
| 2 | 726,672 | 726,896 |
| 3 | 726,971 | 727,119 |
| 4 | 727,276 | 727,388 |
| 5 | 727,459 | 727,559 |
| 6 | 727,639 | 727,699 |
| 7 | 727,781 | 728,268 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 726,102 | 726,497 |
| 2 | CDS | 726,672 | 726,896 |
| 3 | CDS | 726,971 | 727,119 |
| 4 | CDS | 727,276 | 727,388 |
| 5 | CDS | 727,459 | 727,559 |
| 6 | CDS | 727,639 | 727,699 |
| 7 | CDS | 727,781 | 728,052 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr16 | 676,075 | 678,268 | Link |
CDS sequence
ATGGGTAGGGTGGAAGACGGGGGAACAACTGAGGAGCTGGAGGACTGGGACCCAGGCACCAGTGCCCTGCCAGCTCCTGGGATCAAGCAGGGTCCCAGGGAACAGACAGGCACGGGGCCCCTGTCCCAAAAGTGCTGGGAGCCTGAGCCTGATGCTCCCAGCCAGCCTGGCCCAGCCCTTTGGTCCAGGGGTCGGGCCCGCACTCAGGCCTTGGCTGGCGGCTCCTCACTGCAGCAGCTGGACCCCGAGAACACAGGCTTCATCGGTGCGGACACCTTCACTGGCCTGGTGCACAGCCATGAGCTGCCCCTGGACCCGGCCAAGCTGGACATGCTGGTGGCCCTGGCTCAGAGCAACGAGCAGGGCCAGGTCTGCTACCAGGAGCTGGTGGACCTGATCAGCAGCAAGCGCTCCAGCAGTTTCAAGCGGGCCATTGCTAACGGACAGCGGGCACTGCCCCGGGACGGGCCGCTGGATGAGCCAGGCCTAGGTGTCTACAAGCGGTTTGTGCGTTACGTGGCCTACGAGATCCTGCCTTGTGAGGTGGACCGCCGCTGGTACTTCTACCGTCACCGCAGCTGCCCACCCCCCGTGTTCATGGCCTCGGTCACTCTTGCCCAGATCATCGTGTTCCTGTGTTACGGGGCCCGCCTCAACAAGTGGGTGCTGCAGACCTACCACCCCGAGTACATGAAGAGCCCCCTTGTGTACCACCCCGGGCACCGTGCCCGCGCCTGGCGCTTCCTCACCTACATGTTCATGCACGTTGGGCTGGAGCAGCTGGGGTTCAACGCCCTCCTGCAGCTGATGATCGGGGTGCCCCTGGAGATGGTGCACGGCCTGCTCCGCATCAGCCTGCTCTACCTGGCAGGCGTGCTGGCAGGCTCCCTAACCGTCTCCATCACCGACATGCGGGCCCCGGTGGTGGGAGGCTCCGGCGGGGTCTACGCCCTGTGCTCGGCACACCTGGCCAACGTTGTCATGAACTGGGCTGGGATGAGATGTCCCTACAAGTTGCTGAGGATGGTGCTGGCCTTGGTGTGCATGAGCTCCGAGGTGGGCCGGGCCGTGTGGCTGCGCTTCTCCCCGCCGCTGCCCGCCTCGGGCCCACAGCCCAGCTTCATGGCGCACCTGGCAGGCGCGGTGGTGGGGGTGAGCATGGGCCTGACCATCCTGCGGAGCTACGAGGAGCGCCTGCGGGACCAGTGCGGCTGGTGGGTGGTGCTGCTGGCCTACGGCACCTTCCTGCTCTTCGCCGTCTTCTGGAACGTCTTCGCCTACGACCTGCTGGGCGCCCACATCCCCCCACCGCCCTGA
Amino sequence
MGRVEDGGTTEELEDWDPGTSALPAPGIKQGPREQTGTGPLSQKCWEPEPDAPSQPGPALWSRGRARTQALAGGSSLQQLDPENTGFIGADTFTGLVHSHELPLDPAKLDMLVALAQSNEQGQVCYQELVDLISSKRSSSFKRAIANGQRALPRDGPLDEPGLGVYKRFVRYVAYEILPCEVDRRWYFYRHRSCPPPVFMASVTLAQIIVFLCYGARLNKWVLQTYHPEYMKSPLVYHPGHRARAWRFLTYMFMHVGLEQLGFNALLQLMIGVPLEMVHGLLRISLLYLAGVLAGSLTVSITDMRAPVVGGSGGVYALCSAHLANVVMNWAGMRCPYKLLRMVLALVCMSSEVGRAVWLRFSPPLPASGPQPSFMAHLAGAVVGVSMGLTILRSYEERLRDQCGWWVVLLAYGTFLLFAVFWNVFAYDLLGAHIPPPP*