Evidence Details for CHST5
Basic Information Top
Gene Symbol: | CHST5 ( FLJ22167,I-GlcNAc-6-ST,MGC74625 ) |
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Gene Full Name: | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 |
Band: | 16q23.1 |
Quick Links | Entrez ID:23563; OMIM: 604817; Uniprot ID:CHST5_HUMAN; ENSEMBL ID: ENSG00000135702; HGNC ID: 1973 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CHST5|23563|nucleotide
ATGGGCATGAGGGCCCGGGTCCCTAAAGTTGCCCACTCCACCCGAAGGCCCCCAGCCGCCCGCATGTGGCTGCCACGGTTCTCCAGCAAGACAGTGACAGTGCTC
CTCCTGGCACAGACCACCTGCCTCCTGCTCTTCATCATCTCCCGGCCAGGGCCCTCATCCCCAGCCGGCGGCGAGGATCGTGTGCACGTGCTGGTGCTGTCCTCG
TGGCGCTCGGGCTCATCCTTCTTGGGCCAGCTCTTCAGCCAGCACCCCGACGTCTTCTACCTGATGGAGCCCGCGTGGCATGTGTGGACCACCCTGTCGCAGGGC
AGCGCGGCAACGCTGCACATGGCCGTGCGCGACCTGATGCGCTCTATCTTTTTGTGCGACATGGACGTGTTTGATGCCTACATGCCACAGAGCCGAAACCTGTCC
GCCTTTTTCAACTGGGCAACGAGCCGCGCGCTGTGCTCGCCGCCCGCCTGCAGCGCCTTTCCCCGAGGCACCATCAGCAAGCAGGACGTATGCAAGACACTGTGC
ACGCGGCAGCCATTCAGCCTGGCCCGGGAGGCCTGCCGCTCCTACAGCCACGTGGTGCTCAAGGAGGTGCGCTTCTTCAACCTGCAGGTGCTCTACCCGCTGCTC
AGCGACCCCGCGCTCAACCTGCGCATCGTGCACCTGGTGCGCGACCCGCGGGCCGTGCTGCGCTCCCGGGAGGCGGCGGGCCCGATACTGGCACGCGACAACGGC
ATCGTGCTGGGCACCAACGGCAAGTGGGTGGAGGCCGACCCTCACCTGCGCCTGATTCGCGAGGTGTGCCGCAGCCACGTGCGCATCGCCGAGGCCGCCACACTC
AAGCCGCCACCCTTCCTGCGCGGCCGCTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAGAGATCCGCGCACTCTACGCCTTCACCGGCCTG
ACCCTCACGCCACAGCTCGAGGCCTGGATCCACAACATCACCCACGGGTCGGGGATCGGCAAGCCAATCGAGGCCTTCCATACTTCGTCTAGGAATGCGCGCAAC
GTCTCCCAGGCCTGGCGCCACGCGTTGCCCTTCACTAAGATCCTGCGCGTGCAGGAGGTGTGCGCCGGCGCGCTGCAGCTGCTGGGCTACCGGCCTGTGTACTCT
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ATGGGCATGAGGGCCCGGGTCCCTAAAGTTGCCCACTCCACCCGAAGGCCCCCAGCCGCCCGCATGTGGCTGCCACGGTTCTCCAGCAAGACAGTGACAGTGCTC
CTCCTGGCACAGACCACCTGCCTCCTGCTCTTCATCATCTCCCGGCCAGGGCCCTCATCCCCAGCCGGCGGCGAGGATCGTGTGCACGTGCTGGTGCTGTCCTCG
TGGCGCTCGGGCTCATCCTTCTTGGGCCAGCTCTTCAGCCAGCACCCCGACGTCTTCTACCTGATGGAGCCCGCGTGGCATGTGTGGACCACCCTGTCGCAGGGC
AGCGCGGCAACGCTGCACATGGCCGTGCGCGACCTGATGCGCTCTATCTTTTTGTGCGACATGGACGTGTTTGATGCCTACATGCCACAGAGCCGAAACCTGTCC
GCCTTTTTCAACTGGGCAACGAGCCGCGCGCTGTGCTCGCCGCCCGCCTGCAGCGCCTTTCCCCGAGGCACCATCAGCAAGCAGGACGTATGCAAGACACTGTGC
ACGCGGCAGCCATTCAGCCTGGCCCGGGAGGCCTGCCGCTCCTACAGCCACGTGGTGCTCAAGGAGGTGCGCTTCTTCAACCTGCAGGTGCTCTACCCGCTGCTC
AGCGACCCCGCGCTCAACCTGCGCATCGTGCACCTGGTGCGCGACCCGCGGGCCGTGCTGCGCTCCCGGGAGGCGGCGGGCCCGATACTGGCACGCGACAACGGC
ATCGTGCTGGGCACCAACGGCAAGTGGGTGGAGGCCGACCCTCACCTGCGCCTGATTCGCGAGGTGTGCCGCAGCCACGTGCGCATCGCCGAGGCCGCCACACTC
AAGCCGCCACCCTTCCTGCGCGGCCGCTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCGCTGGCAGAGATCCGCGCACTCTACGCCTTCACCGGCCTG
ACCCTCACGCCACAGCTCGAGGCCTGGATCCACAACATCACCCACGGGTCGGGGATCGGCAAGCCAATCGAGGCCTTCCATACTTCGTCTAGGAATGCGCGCAAC
GTCTCCCAGGCCTGGCGCCACGCGTTGCCCTTCACTAAGATCCTGCGCGTGCAGGAGGTGTGCGCCGGCGCGCTGCAGCTGCTGGGCTACCGGCCTGTGTACTCT
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>CHST5|23563|protein
MGMRARVPKVAHSTRRPPAARMWLPRFSSKTVTVLLLAQTTCLLLFIISRPGPSSPAGGEDRVHVLVLSSWRSGSSFLGQLFSQHPDVFYLMEPAWHVWTTLSQG
SAATLHMAVRDLMRSIFLCDMDVFDAYMPQSRNLSAFFNWATSRALCSPPACSAFPRGTISKQDVCKTLCTRQPFSLAREACRSYSHVVLKEVRFFNLQVLYPLL
SDPALNLRIVHLVRDPRAVLRSREAAGPILARDNGIVLGTNGKWVEADPHLRLIREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGL
TLTPQLEAWIHNITHGSGIGKPIEAFHTSSRNARNVSQAWRHALPFTKILRVQEVCAGALQLLGYRPVYSADQQRDLTLDLVLPRGPDHFSWASPD
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MGMRARVPKVAHSTRRPPAARMWLPRFSSKTVTVLLLAQTTCLLLFIISRPGPSSPAGGEDRVHVLVLSSWRSGSSFLGQLFSQHPDVFYLMEPAWHVWTTLSQG
SAATLHMAVRDLMRSIFLCDMDVFDAYMPQSRNLSAFFNWATSRALCSPPACSAFPRGTISKQDVCKTLCTRQPFSLAREACRSYSHVVLKEVRFFNLQVLYPLL
SDPALNLRIVHLVRDPRAVLRSREAAGPILARDNGIVLGTNGKWVEADPHLRLIREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGL
TLTPQLEAWIHNITHGSGIGKPIEAFHTSSRNARNVSQAWRHALPFTKILRVQEVCAGALQLLGYRPVYSADQQRDLTLDLVLPRGPDHFSWASPD
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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 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
O'Roak BJ, 2011 | - | 20 | 21 | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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