Evidence Details for HS3ST3B1
Basic Information Top
| Gene Symbol: | HS3ST3B1 ( 30ST3B1,3OST3B1 ) |
|---|---|
| Gene Full Name: | heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 |
| Band: | 17p12 |
| Quick Links | Entrez ID:9953; OMIM: 604058; Uniprot ID:HS3SB_HUMAN; ENSEMBL ID: ENSG00000125430; HGNC ID: 5198 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HS3ST3B1|9953|nucleotide
ATGGGGCAGCGCCTGAGTGGCGGCAGATCTTGCCTCGATGTCCCCGGCCGGCTCCTACCGCAGCCGCCGCCGCCCCCGCCGCCGGTGAGGAGGAAGCTCGCGCTG
CTCTTCGCCATGCTCTGCGTCTGGCTCTATATGTTCCTGTACTCGTGCGCCGGCTCCTGCGCCGCCGCGCCGGGGCTGCTGCTCCTGGGCTCTGGGTCCCGCGCC
GCACACGACCCGCCAGCCCTGGCCACAGCTCCGGACGGGACGCCCCCCAGGCTGCCGTTCCGGGCGCCGCCAGCCACCCCACTGGCTTCAGGCAAGGAGATGGCC
GAGGGCGCTGCGAGCCCGGAGGAGCAGAGTCCCGAGGTGCCGGACTCCCCAAGCCCCATCTCCAGCTTTTTCAGTGGGTCTGGGAGCAAGCAGCTGCCGCAGGCC
ATCATCATCGGCGTGAAGAAGGGCGGCACGCGGGCGCTGCTGGAGTTTCTGCGCGTGCACCCCGACGTGCGCGCCGTGGGCGCCGAGCCCCATTTCTTCGATCGC
AGCTACGACAAGGGCCTCGCTTGGTACCGGGACCTGATGCCCAGAACCCTGGACGGGCAGATCACCATGGAGAAGACGCCCAGTTACTTCGTCACGCGGGAGGCC
CCCGCGCGCATCTCGGCCATGTCCAAGGACACCAAGCTCATCGTGGTGGTGCGGGACCCGGTGACCAGGGCCATCTCGGACTACACGCAGACGCTGTCCAAGCGG
CCCGACATCCCCACCTTCGAGAGCTTGACGTTCAAAAACAGGACAGCGGGCCTCATCGACACGTCGTGGAGCGCCATCCAGATCGGCATCTACGCCAAGCACCTG
GAGCACTGGCTGCGCCACTTCCCCATCCGCCAGATGCTCTTCGTGAGCGGCGAGCGGCTCATCAGCGACCCGGCCGGGGAGCTGGGCCGCGTGCAAGACTTCCTG
GGCCTCAAGAGGATCATCACGGACAAGCACTTCTACTTCAACAAGACCAAGGGCTTCCCCTGCCTGAAGAAGGCGGAGGGCAGCAGCCGGCCCCATTGCCTGGGC
AAGACCAAGGGCAGGACCCATCCTGAGATCGACCGCGAGGTGGTGCGCAGGCTGCGCGAGTTCTACCGGCCTTTCAACCTCAAGTTCTACCAGATGACCGGGCAC
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ATGGGGCAGCGCCTGAGTGGCGGCAGATCTTGCCTCGATGTCCCCGGCCGGCTCCTACCGCAGCCGCCGCCGCCCCCGCCGCCGGTGAGGAGGAAGCTCGCGCTG
CTCTTCGCCATGCTCTGCGTCTGGCTCTATATGTTCCTGTACTCGTGCGCCGGCTCCTGCGCCGCCGCGCCGGGGCTGCTGCTCCTGGGCTCTGGGTCCCGCGCC
GCACACGACCCGCCAGCCCTGGCCACAGCTCCGGACGGGACGCCCCCCAGGCTGCCGTTCCGGGCGCCGCCAGCCACCCCACTGGCTTCAGGCAAGGAGATGGCC
GAGGGCGCTGCGAGCCCGGAGGAGCAGAGTCCCGAGGTGCCGGACTCCCCAAGCCCCATCTCCAGCTTTTTCAGTGGGTCTGGGAGCAAGCAGCTGCCGCAGGCC
ATCATCATCGGCGTGAAGAAGGGCGGCACGCGGGCGCTGCTGGAGTTTCTGCGCGTGCACCCCGACGTGCGCGCCGTGGGCGCCGAGCCCCATTTCTTCGATCGC
AGCTACGACAAGGGCCTCGCTTGGTACCGGGACCTGATGCCCAGAACCCTGGACGGGCAGATCACCATGGAGAAGACGCCCAGTTACTTCGTCACGCGGGAGGCC
CCCGCGCGCATCTCGGCCATGTCCAAGGACACCAAGCTCATCGTGGTGGTGCGGGACCCGGTGACCAGGGCCATCTCGGACTACACGCAGACGCTGTCCAAGCGG
CCCGACATCCCCACCTTCGAGAGCTTGACGTTCAAAAACAGGACAGCGGGCCTCATCGACACGTCGTGGAGCGCCATCCAGATCGGCATCTACGCCAAGCACCTG
GAGCACTGGCTGCGCCACTTCCCCATCCGCCAGATGCTCTTCGTGAGCGGCGAGCGGCTCATCAGCGACCCGGCCGGGGAGCTGGGCCGCGTGCAAGACTTCCTG
GGCCTCAAGAGGATCATCACGGACAAGCACTTCTACTTCAACAAGACCAAGGGCTTCCCCTGCCTGAAGAAGGCGGAGGGCAGCAGCCGGCCCCATTGCCTGGGC
AAGACCAAGGGCAGGACCCATCCTGAGATCGACCGCGAGGTGGTGCGCAGGCTGCGCGAGTTCTACCGGCCTTTCAACCTCAAGTTCTACCAGATGACCGGGCAC
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>HS3ST3B1|9953|protein
MGQRLSGGRSCLDVPGRLLPQPPPPPPPVRRKLALLFAMLCVWLYMFLYSCAGSCAAAPGLLLLGSGSRAAHDPPALATAPDGTPPRLPFRAPPATPLASGKEMA
EGAASPEEQSPEVPDSPSPISSFFSGSGSKQLPQAIIIGVKKGGTRALLEFLRVHPDVRAVGAEPHFFDRSYDKGLAWYRDLMPRTLDGQITMEKTPSYFVTREA
PARISAMSKDTKLIVVVRDPVTRAISDYTQTLSKRPDIPTFESLTFKNRTAGLIDTSWSAIQIGIYAKHLEHWLRHFPIRQMLFVSGERLISDPAGELGRVQDFL
GLKRIITDKHFYFNKTKGFPCLKKAEGSSRPHCLGKTKGRTHPEIDREVVRRLREFYRPFNLKFYQMTGHDFGWD
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MGQRLSGGRSCLDVPGRLLPQPPPPPPPVRRKLALLFAMLCVWLYMFLYSCAGSCAAAPGLLLLGSGSRAAHDPPALATAPDGTPPRLPFRAPPATPLASGKEMA
EGAASPEEQSPEVPDSPSPISSFFSGSGSKQLPQAIIIGVKKGGTRALLEFLRVHPDVRAVGAEPHFFDRSYDKGLAWYRDLMPRTLDGQITMEKTPSYFVTREA
PARISAMSKDTKLIVVVRDPVTRAISDYTQTLSKRPDIPTFESLTFKNRTAGLIDTSWSAIQIGIYAKHLEHWLRHFPIRQMLFVSGERLISDPAGELGRVQDFL
GLKRIITDKHFYFNKTKGFPCLKKAEGSSRPHCLGKTKGRTHPEIDREVVRRLREFYRPFNLKFYQMTGHDFGWD
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Christian, 2008 | USA | aCGH |  | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.762 | Up | 0.0375 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.