Detailed description page of humcfs
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HPS5 details |
| Primary information | |
|---|---|
| gene_name | HPS5 |
| Humcfs Id | Humcfs_2992 |
| chromosome_number | chromosome11 |
| name | FRA11C |
| chrlocation | 16200001-21700000 |
| cytoband | 11p15.1 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000110756 |
| havana_transcript_id | OTTHUMT00000395869 |
| gene_location | 18285373-18296045 |
| gene_orientation | - |
| exon_id | ENSE00002247773, ENSE00003627456, ENSE00003583850, ENSE00003584357, ENSE00003525859, ENSE00003637766, ENSE00002312439 |
| exon_number | 7 |
| gene_description | Hermansky-Pudlak syndrome 5 |
| disease_description | Platelet Storage Pool Deficiency,Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells,Multiple polyps,Hantavirus Infections,HERMANSKY-PUDLAK SYNDROME 5,Hyperplastic Polyp |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 15771901 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |
| Primary information | |
|---|---|
| gene_name | HPS5 |
| Humcfs Id | Humcfs_3288 |
| chromosome_number | chromosome11 |
| name | FRA11I |
| chrlocation | 16100001-21600000 |
| cytoband | 11p15.1 |
| type | DistamycinA |
| frequency | Rare |
| gene_ensembl_id | ENSG00000110756 |
| havana_transcript_id | NA |
| gene_location | 18296162-18322198 |
| gene_orientation | - |
| exon_id | ENSE00002144156, ENSE00003535961, ENSE00003618406, ENSE00003560804, ENSE00003639191, ENSE00003528879, ENSE00003555194, ENSE00003610620, ENSE00003491913, ENSE00002149134 |
| exon_number | 10 |
| gene_description | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
| disease_description | Albinism,Achromasia,Ecchymosis |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 3169734 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |