ENST00000531967.5 ECHDC1
Information
- Transcript ID
- ENST00000531967.5
- Genome
- hg19
- Position
- chr6:127,609,857-127,664,020
- Strand
- -
- CDS length
- 924
- Amino acid length
- 308
- Gene symbol
- ECHDC1
- Gene type
- protein-coding
- Gene description
- ethylmalonyl-CoA decarboxylase 1
- Gene Entrez Gene ID
- 55862
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| 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 |
|---|---|---|
| 6 | 127,609,857 | 127,611,422 |
| 5 | 127,635,961 | 127,636,041 |
| 4 | 127,637,595 | 127,637,647 |
| 3 | 127,648,147 | 127,648,289 |
| 2 | 127,651,954 | 127,652,175 |
| 1 | 127,663,501 | 127,664,020 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 6 | CDS | 127,611,014 | 127,611,422 |
| 5 | CDS | 127,635,961 | 127,636,041 |
| 4 | CDS | 127,637,595 | 127,637,647 |
| 3 | CDS | 127,648,147 | 127,648,289 |
| 2 | CDS | 127,651,954 | 127,652,175 |
| 1 | CDS | 127,663,501 | 127,663,516 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr6 | 127,288,712 | 127,342,875 | Link |
CDS sequence
ATGGCATTGAAACAGGAAATGGCGAAAAGTCTTTTGAAGACAGCCTCTCTGTCTGGAAGGACAAAATTGCTACATCAAACAGGATTGTCACTTTATAGTACATCCCATGGATTTTATGAGGAAGAAGTGAAAAAAACACTTCAGCAGTTTCCTGGTGGATCCATTGACCTTCAGAAGGAAGACAATGGCATTGGCATTCTTACTCTGAACAATCCAAGTAGAATGAATGCCTTTTCAGGTGTTATGATGCTACAACTTCTGGAAAAAGTAATTGAATTGGAAAATTGGACAGAGGGGAAAGGCCTCATTGTCCGTGGGGCAAAAAATACTTTCTCTTCAGGATCTGATCTGAATGCTGTGAAATCACTAGGAACTCCAGAGGATGGAATGGCCGTATGCATGTTCATGCAAAACACCTTAACAAGATTTATGAGACTTCCTTTAATAAGTGTTGCGCTGGTTCAAGGTTGGGCATTGGGTGGAGGAGCAGAATTTACTACAGCATGTGATTTCAGGTTAATGACTCCAGAGAGTAAGATCAGATTCGTCCACAAAGAGATGGGCATAATACCAAGCTGGGGTGGCACCACCCGGCTAGTTGAAATAATCGGAAGTAGACAAGCTCTCAAAGTGTTGAGTGGGGCCCTTAAACTGGATTCAAAAAATGCTCTAAACATAGGAATGGTTGAAGAGGTCTTGCAGTCTTCAGATGAAACTAAATCTCTAGAAGAGGCACAAGAATGGCTAAAGCAATTCATCCAAGGGCCACCGGAAGTAATTAGAGCTTTGAAAAAATCTGTTTGTTCAGGCAGAGAGCTATATTTGGAGGAAGCATTACAGAACGAAAGAGATCTTTTAGGAACAGTTTGGGGTGGGCCTGCAAATTTAGAGGCTATTGCTAAGAAAGGAAAATTTAATAAATAA
Amino sequence
MALKQEMAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKEDNGIGILTLNNPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAVKSLGTPEDGMAVCMFMQNTLTRFMRLPLISVALVQGWALGGGAEFTTACDFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNALNIGMVEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNERDLLGTVWGGPANLEAIAKKGKFNK*