BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1
Information
- Symbol
- BLOC1S1
- Type
- protein-coding
- Description
- biogenesis of lysosomal organelles complex 1 subunit 1
- Entrez Gene ID
- 2647
- Genome
- hg19
- Position
- chr12:56,109,830-56,113,487
- Genome
- hg38
- Position
- chr12:55,716,046-55,719,703
- MIM
- 601444 OMIM
- HGNC
- HGNC:4200 HGNC
- Ensembl
- ENSG00000135441 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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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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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BLOS1 |
| SYNONYM | BORCS1 |
| SYNONYM | GCN5L1 |
| SYNONYM | MICoA |
| SYNONYM | RT14 |
| MIM | 601444 OMIM |
| HGNC | HGNC:4200 HGNC |
| Ensembl | ENSG00000135441 Ensembl |
| AllianceGenome | HGNC:4200 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000547076.5 | hg38 | chr12 | 55,716,292 | 55,719,703 | 3,412 |
| ENST00000551926.1 | hg38 | chr12 | 55,716,513 | 55,719,343 | 2,831 |
| ENST00000548925.6 | hg38 | chr12 | 55,716,046 | 55,719,703 | 3,658 |
| ENST00000548556.1 | hg38 | chr12 | 55,716,531 | 55,719,703 | 3,173 |
| ENST00000549147.1 | hg38 | chr12 | 55,716,038 | 55,720,087 | 4,050 |
| ENST00000549147.1 | hg19 | chr12 | 56,109,822 | 56,113,871 | 4,050 |
| ENST00000548925.6 | hg19 | chr12 | 56,109,830 | 56,113,487 | 3,658 |
| ENST00000547076.5 | hg19 | chr12 | 56,110,076 | 56,113,487 | 3,412 |
| ENST00000551926.1 | hg19 | chr12 | 56,110,297 | 56,113,127 | 2,831 |
| ENST00000548556.1 | hg19 | chr12 | 56,110,315 | 56,113,487 | 3,173 |
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