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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. HPS6, Hermansky-Pudlak syndrome 6
Sequence ID:NM_024747
RefSeqGene ID:NG_012029
Entrez Gene ID:79803
Ensembl ID:ENSG00000166189

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
HERMANSKY-PUDLAK SYNDROME 1BLOC1S3
DTNBP1
HPS1
HPS3
HPS4
HPS5

Cytogenetic Location (from UniGene)

Cytogenetic Location:10q24.32Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:10: 103825158 - 103827793

NM_024747 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
12646103825146103827791

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4578480Full LengthBC011594Hermansky-Pudlak syndrome 6
4869397Full LengthBC014993Hermansky-Pudlak syndrome 6

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_024747 NP_079023 Q86YV9  

Related Sequences

 
mRNAGenPeptSwissProt
BC011594 AAH11594 Q86YV9
BC014993 AAH14993 Q86YV9
AF536238 AAO25965 Q86YV9
AK026154 BAB15378 Q86YV9

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens HPS6 NP_079023 M.musculus Hps6 20170 Gene Info NP_789742 83
R.norvegicus Hps6 309446   NP_852097 82

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)