ENST00000686671.1 SHOX
Information
- Transcript ID
- ENST00000686671.1
- Genome
- hg19
- Position
- chrX:591,526-612,319
- Strand
- +
- CDS length
- 879
- Amino acid length
- 293
- Gene symbol
- SHOX
- Gene type
- protein-coding
- Gene description
- SHOX homeobox
- Gene Entrez Gene ID
- 6473
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 |
|---|---|---|
| 1 | 591,526 | 591,909 |
| 2 | 595,353 | 595,561 |
| 3 | 601,556 | 601,613 |
| 4 | 601,734 | 601,822 |
| 5 | 605,126 | 612,319 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 591,633 | 591,909 |
| 2 | CDS | 595,353 | 595,561 |
| 3 | CDS | 601,556 | 601,613 |
| 4 | CDS | 601,734 | 601,822 |
| 5 | CDS | 605,126 | 605,371 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chrX | 630,791 | 651,584 | Link |
CDS sequence
ATGGAAGAGCTCACGGCTTTTGTATCCAAGTCTTTTGACCAGAAAAGCAAGGACGGTAACGGCGGAGGCGGAGGCGGCGGAGGTAAGAAGGATTCCATTACGTACCGGGAAGTTTTGGAGAGCGGACTGGCGCGCTCCCGGGAGCTGGGGACGTCGGATTCCAGCCTCCAGGACATCACGGAGGGCGGCGGCCACTGCCCGGTGCATTTGTTCAAGGACCACGTAGACAATGACAAGGAGAAACTGAAAGAATTCGGCACCGCGAGAGTGGCAGAAGGGATTTATGAATGCAAAGAGAAGCGCGAGGACGTGAAGTCGGAGGACGAGGACGGGCAGACCAAGCTGAAACAGAGGCGCAGCCGCACCAACTTCACGCTGGAGCAGCTGAACGAGCTCGAGCGACTCTTCGACGAGACCCATTACCCCGACGCCTTCATGCGCGAGGAGCTCAGCCAGCGCCTGGGGCTCTCCGAGGCGCGCGTGCAGGTTTGGTTCCAGAACCGGAGAGCCAAGTGCCGCAAACAAGAGAATCAGATGCATAAAGGCGTCATCTTGGGCACAGCCAACCACCTAGACGCCTGCCGAGTGGCACCCTACGTCAACATGGGAGCCTTACGGATGCCTTTCCAACAGGTCCAGGCTCAGCTGCAGCTGGAAGGCGTGGCCCACGCGCACCCGCACCTGCACCCGCACCTGGCGGCGCACGCGCCCTACCTGATGTTCCCCCCGCCGCCCTTCGGGCTGCCCATCGCGTCGCTGGCCGAGTCCGCCTCGGCCGCCGCCGTGGTCGCCGCCGCCGCCAAAAGCAACAGCAAGAATTCCAGCATCGCCGACCTGCGGCTCAAGGCGCGGAAGCACGCGGAGGCCCTGGGGCTCTGA
Amino sequence
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL*