ENST00000537258.1 HPS5
Information
- Transcript ID
- ENST00000537258.1
- Genome
- hg38
- Position
- chr11:18,279,618-18,286,914
- 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
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| Category | : |
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| 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
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| Category | : |
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| 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 | 18,279,618 | 18,279,942 |
| 5 | 18,280,509 | 18,280,642 |
| 4 | 18,281,950 | 18,282,220 |
| 3 | 18,283,795 | 18,283,901 |
| 2 | 18,285,346 | 18,285,459 |
| 1 | 18,286,591 | 18,286,914 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 6 | CDS | 18,279,935 | 18,279,942 |
| 5 | CDS | 18,280,509 | 18,280,642 |
| 4 | CDS | 18,281,950 | 18,282,220 |
| 3 | CDS | 18,283,795 | 18,283,901 |
| 2 | CDS | 18,285,346 | 18,285,459 |
| 1 | CDS | 18,286,591 | 18,286,748 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr11 | 18,301,165 | 18,308,461 | Link |
CDS sequence
ATGAAGATTGGTGACTTTTTTCCCCAACTTTCTCTTAGGTCATCTTTTCTTGAGTCCCTTCTGCAACCAGAGTCTTTAAGGTTGGATTGGCTGCTTTTGGCAGTGTCCCTTGATGCTCCACCAAGCACCAGCACAATGGATGATGAAGGTTATCCCAGGCCTCATTCACACTTGCTTTCCTGGGGTTACAGTCAGCTGATCCTTCATCTAATTAAACTTCCTGCAGATTTTATAACCAAAGAGAAAATGACAGACATCTGCAGGTCTTGTGGTTTCTGGCCTGGATATCTAATTCTCTGTTTGGAGCTGGAGAGAAGAAGAGAGGCCTTCACCAATATTGTGTATCTGAATGATATGAGCCTGATGGAAGGGGACAATGGTTGGATCCCAGAGACCGTGGAGGAATGGAAGCTTCTCCTTCATCTCATACAGAGCAAGAGCACGAGGCCAGCCCCCCAGGAGTCACTAAATGGGAGCCTCAGTGATGGGCCTTCCCCCATCAATGTGGAGAATGTGGCACTTCTGTTAGCTAAGGCCATGGGCCCAGATCGGGCTTGGTCACTGCTACAGGAATGTGGTCTGGCCCTTGAGTTGTCAGAGAAGTTTACCAGAACCTGCGATATCCTGAGGATTGCTGAGAAAAGGCAGAGACACTTGAATTGCTTCCACTTTCTGGCTATTGTGAATAACGCTGCTATGAATATGAGTATACAAATATGTCTTCCAGACACTGCTTTCAGTTCTTTCGGGTATATACCTGAAAGTGGAATTCTGGAATCATATGGGCCTTGA
Amino sequence
MKIGDFFPQLSLRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRHLNCFHFLAIVNNAAMNMSIQICLPDTAFSSFGYIPESGILESYGP*