Evidence Details for SLC35D2
Basic Information Top
Gene Symbol: | SLC35D2 ( HFRC1,MGC117215,MGC142139,SQV7L,UGTrel8,hfrc ) |
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Gene Full Name: | solute carrier family 35, member D2 |
Band: | 9q22.32 |
Quick Links | Entrez ID:11046; OMIM: 609182; Uniprot ID:S35D2_HUMAN; ENSEMBL ID: ENSG00000130958; HGNC ID: 20799 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SLC35D2|11046|nucleotide
ATGACGGCCGGCGGCCAGGCCGAGGCCGAGGGCGCTGGCGGGGAGCCCGGCGCGGCGCGGCTGCCCTCGCGGGTGGCCCGGCTGCTGTCGGCGCTCTTCTACGGG
ACCTGCTCCTTCCTCATCGTGCTTGTCAACAAGGCGCTGCTGACCACCTACGGTTTCCCGTCACCAATTTTCCTTGGAATTGGACAGATGGCAGCCACCATAATG
ATACTATATGTGTCCAAGCTAAACAAAATCATTCACTTCCCTGATTTTGATAAGAAAATTCCTGTAAAGCTGTTTCCTCTGCCTCTCCTCTACGTTGGAAACCAC
ATAAGTGGATTATCAAGCACAAGTAAATTAAGCCTACCGATGTTCACCGTGCTCAGGAAATTCACCATTCCACTTACCTTACTTCTGGAAACCATCATACTTGGG
AAGCAGTATTCACTCAACATCATCCTCAGTGTCTTTGCCATTATTCTCGGGGCTTTCATAGCAGCTGGGTCTGACCTTGCTTTTAACTTAGAAGGCTATATTTTT
GTATTCCTGAATGATATCTTCACAGCAGCAAATGGAGTTTATACCAAACAGAAAATGGACCCAAAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGC
TTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGCTACTGAATTCAACCAATGGAAGAATGTTGTGTTTATCCTACAGTTTCTT
CTTTCCTGTTTTTTGGGGTTTCTGCTGATGTACTCCACGGTTCTGTGCAGCTATTACAATTCAGCCCTGACGACAGCAGTGGTTGGAGCCATCAAGAATGTATCC
GTTGCCTACATTGGGATATTAATCGGTGGAGACTACATTTTCTCTTTGTTAAACTTTGTAGGGTTAAATATTTGCATGGCAGGGGGCTTGAGATATTCCTTTTTA
ACACTGAGCAGCCAGTTAAAACCTAAACCTGTGGGTGAAGAAAACATCTGTTTGGATTTGAAGAGCTAA
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ATGACGGCCGGCGGCCAGGCCGAGGCCGAGGGCGCTGGCGGGGAGCCCGGCGCGGCGCGGCTGCCCTCGCGGGTGGCCCGGCTGCTGTCGGCGCTCTTCTACGGG
ACCTGCTCCTTCCTCATCGTGCTTGTCAACAAGGCGCTGCTGACCACCTACGGTTTCCCGTCACCAATTTTCCTTGGAATTGGACAGATGGCAGCCACCATAATG
ATACTATATGTGTCCAAGCTAAACAAAATCATTCACTTCCCTGATTTTGATAAGAAAATTCCTGTAAAGCTGTTTCCTCTGCCTCTCCTCTACGTTGGAAACCAC
ATAAGTGGATTATCAAGCACAAGTAAATTAAGCCTACCGATGTTCACCGTGCTCAGGAAATTCACCATTCCACTTACCTTACTTCTGGAAACCATCATACTTGGG
AAGCAGTATTCACTCAACATCATCCTCAGTGTCTTTGCCATTATTCTCGGGGCTTTCATAGCAGCTGGGTCTGACCTTGCTTTTAACTTAGAAGGCTATATTTTT
GTATTCCTGAATGATATCTTCACAGCAGCAAATGGAGTTTATACCAAACAGAAAATGGACCCAAAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGC
TTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGCTACTGAATTCAACCAATGGAAGAATGTTGTGTTTATCCTACAGTTTCTT
CTTTCCTGTTTTTTGGGGTTTCTGCTGATGTACTCCACGGTTCTGTGCAGCTATTACAATTCAGCCCTGACGACAGCAGTGGTTGGAGCCATCAAGAATGTATCC
GTTGCCTACATTGGGATATTAATCGGTGGAGACTACATTTTCTCTTTGTTAAACTTTGTAGGGTTAAATATTTGCATGGCAGGGGGCTTGAGATATTCCTTTTTA
ACACTGAGCAGCCAGTTAAAACCTAAACCTGTGGGTGAAGAAAACATCTGTTTGGATTTGAAGAGCTAA
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>SLC35D2|11046|protein
MTAGGQAEAEGAGGEPGAARLPSRVARLLSALFYGTCSFLIVLVNKALLTTYGFPSPIFLGIGQMAATIMILYVSKLNKIIHFPDFDKKIPVKLFPLPLLYVGNH
ISGLSSTSKLSLPMFTVLRKFTIPLTLLLETIILGKQYSLNIILSVFAIILGAFIAAGSDLAFNLEGYIFVFLNDIFTAANGVYTKQKMDPKELGKYGVLFYNAC
FMIIPTLIISVSTGDLQQATEFNQWKNVVFILQFLLSCFLGFLLMYSTVLCSYYNSALTTAVVGAIKNVSVAYIGILIGGDYIFSLLNFVGLNICMAGGLRYSFL
TLSSQLKPKPVGEENICLDLKS
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MTAGGQAEAEGAGGEPGAARLPSRVARLLSALFYGTCSFLIVLVNKALLTTYGFPSPIFLGIGQMAATIMILYVSKLNKIIHFPDFDKKIPVKLFPLPLLYVGNH
ISGLSSTSKLSLPMFTVLRKFTIPLTLLLETIILGKQYSLNIILSVFAIILGAFIAAGSDLAFNLEGYIFVFLNDIFTAANGVYTKQKMDPKELGKYGVLFYNAC
FMIIPTLIISVSTGDLQQATEFNQWKNVVFILQFLLSCFLGFLLMYSTVLCSYYNSALTTAVVGAIKNVSVAYIGILIGGDYIFSLLNFVGLNICMAGGLRYSFL
TLSSQLKPKPVGEENICLDLKS
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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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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