ENST00000537258.1 HPS5
Information
- Transcript ID
- ENST00000537258.1
- Genome
- hg19
- Position
- chr11:18,301,165-18,308,461
- Strand
- -
- CDS length
- 792
- Amino acid length
- 264
- Gene symbol
- HPS5
- Gene type
- protein-coding
- Gene description
- HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
- Gene Entrez Gene ID
- 11234
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 |
|---|---|---|
| 6 | 18,301,165 | 18,301,489 |
| 5 | 18,302,056 | 18,302,189 |
| 4 | 18,303,497 | 18,303,767 |
| 3 | 18,305,342 | 18,305,448 |
| 2 | 18,306,893 | 18,307,006 |
| 1 | 18,308,138 | 18,308,461 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 6 | CDS | 18,301,482 | 18,301,489 |
| 5 | CDS | 18,302,056 | 18,302,189 |
| 4 | CDS | 18,303,497 | 18,303,767 |
| 3 | CDS | 18,305,342 | 18,305,448 |
| 2 | CDS | 18,306,893 | 18,307,006 |
| 1 | CDS | 18,308,138 | 18,308,295 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr11 | 18,279,618 | 18,286,914 | Link |
CDS sequence
ATGAAGATTGGTGACTTTTTTCCCCAACTTTCTCTTAGGTCATCTTTTCTTGAGTCCCTTCTGCAACCAGAGTCTTTAAGGTTGGATTGGCTGCTTTTGGCAGTGTCCCTTGATGCTCCACCAAGCACCAGCACAATGGATGATGAAGGTTATCCCAGGCCTCATTCACACTTGCTTTCCTGGGGTTACAGTCAGCTGATCCTTCATCTAATTAAACTTCCTGCAGATTTTATAACCAAAGAGAAAATGACAGACATCTGCAGGTCTTGTGGTTTCTGGCCTGGATATCTAATTCTCTGTTTGGAGCTGGAGAGAAGAAGAGAGGCCTTCACCAATATTGTGTATCTGAATGATATGAGCCTGATGGAAGGGGACAATGGTTGGATCCCAGAGACCGTGGAGGAATGGAAGCTTCTCCTTCATCTCATACAGAGCAAGAGCACGAGGCCAGCCCCCCAGGAGTCACTAAATGGGAGCCTCAGTGATGGGCCTTCCCCCATCAATGTGGAGAATGTGGCACTTCTGTTAGCTAAGGCCATGGGCCCAGATCGGGCTTGGTCACTGCTACAGGAATGTGGTCTGGCCCTTGAGTTGTCAGAGAAGTTTACCAGAACCTGCGATATCCTGAGGATTGCTGAGAAAAGGCAGAGACACTTGAATTGCTTCCACTTTCTGGCTATTGTGAATAACGCTGCTATGAATATGAGTATACAAATATGTCTTCCAGACACTGCTTTCAGTTCTTTCGGGTATATACCTGAAAGTGGAATTCTGGAATCATATGGGCCTTGA
Amino sequence
MKIGDFFPQLSLRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRHLNCFHFLAIVNNAAMNMSIQICLPDTAFSSFGYIPESGILESYGP*