AutismKB 2.0

Evidence Details for HPS6


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Basic Information Top
Gene Symbol:HPS6 ( FLJ22501,MGC20522,RP11-302K17.1 )
Gene Full Name: Hermansky-Pudlak syndrome 6
Band: 10q24.32
Quick LinksEntrez ID:79803; OMIM: 607522; Uniprot ID:HPS6_HUMAN; ENSEMBL ID: ENSG00000166189; HGNC ID: 18817
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HPS6|79803|nucleotide
ATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGT
GGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCC
TGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGC
GCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGG
TGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGC
ACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCT
GGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGA
GGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTG
CTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCA
GCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACA
GACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGT
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>HPS6|79803|protein
MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVASRGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWG
AGVGPGWRPLQSTELCPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGRTHVLLHHCPAFGLLASCRQLFLVPTATTWP
GVAHVLLIWSPGKGKVMVAAPRLGLSYSKSLNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRAVGTLQEAPVGPWGSA
ALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPAPGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQ
LTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRAL
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top