ENST00000447146.7 PQBP1
Information
- Transcript ID
- ENST00000447146.7
- Genome
- hg19
- Position
- chrX:48,755,213-48,760,420
- Strand
- +
- CDS length
- 798
- Amino acid length
- 266
- Gene symbol
- PQBP1
- Gene type
- protein-coding
- Gene description
- polyglutamine binding protein 1
- Gene Entrez Gene ID
- 10084
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 | 48,755,213 | 48,755,365 |
| 2 | 48,755,775 | 48,755,859 |
| 3 | 48,758,467 | 48,758,578 |
| 4 | 48,759,207 | 48,759,319 |
| 5 | 48,759,510 | 48,759,794 |
| 6 | 48,760,009 | 48,760,072 |
| 7 | 48,760,205 | 48,760,420 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 2 | CDS | 48,755,793 | 48,755,859 |
| 3 | CDS | 48,758,467 | 48,758,578 |
| 4 | CDS | 48,759,207 | 48,759,319 |
| 5 | CDS | 48,759,510 | 48,759,794 |
| 6 | CDS | 48,760,009 | 48,760,072 |
| 7 | CDS | 48,760,205 | 48,760,361 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chrX | 48,897,930 | 48,903,143 | Link |
CDS sequence
ATGCCGCTGCCCGTTGCGCTGCAGACCCGCTTGGCCAAGAGAGGCATCCTCAAACATCTGGAGCCTGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGATGATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGCGGGCTCCCTTACTACTGGAATGCAGACACAGACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGATGCTGAAGAAAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGGGATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAACGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCAGACGCCCCCCGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTATCCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGA
Amino sequence
MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD*