ENST00000397457.7 BLOC1S5
Information
- Transcript ID
- ENST00000397457.7
- Genome
- hg19
- Position
- chr6:8,013,800-8,064,622
- Strand
- -
- CDS length
- 564
- Amino acid length
- 188
- Gene symbol
- BLOC1S5
- Gene type
- protein-coding
- Gene description
- biogenesis of lysosomal organelles complex 1 subunit 5
- Gene Entrez Gene ID
- 63915
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
|
| 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 |
|---|---|---|
| 5 | 8,013,800 | 8,016,061 |
| 4 | 8,026,600 | 8,026,658 |
| 3 | 8,041,372 | 8,041,501 |
| 2 | 8,062,767 | 8,062,849 |
| 1 | 8,064,498 | 8,064,622 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 5 | CDS | 8,015,882 | 8,016,061 |
| 4 | CDS | 8,026,600 | 8,026,658 |
| 3 | CDS | 8,041,372 | 8,041,501 |
| 2 | CDS | 8,062,767 | 8,062,849 |
| 1 | CDS | 8,064,498 | 8,064,609 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr6 | 8,013,567 | 8,064,389 | Link |
CDS sequence
ATGAGTGGCGGAGGGACAGAGACCCCTGTGGGTTGTGAGGCCGCCCCGGGCGGTGGCAGCAAGAAGAGGGACTCCCTGGGGACTGCGGGCTCAGCGCACCTCATTATCAAGGATCTTGGAGAAATTCATTCAAGGCTTTTGGATCACAGACCAGTTATTCAAGGTGAAACTCGTTATTTTGTAAAAGAATTTGAAGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGATGGAGAAGGACCTAGCGAAATTTTCAACCTTTTAA
Amino sequence
MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFEEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQWDNFMKEQPNKRAEVDEEHRKAMERLKEQYAEMEKDLAKFSTF*