AutismKB 2.0

Evidence Details for SLC5A8


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Basic Information Top
Gene Symbol:SLC5A8 ( AIT,MGC125354,SMCT,SMCT1 )
Gene Full Name: solute carrier family 5 (iodide transporter), member 8
Band: 12q23.1-q23.2
Quick LinksEntrez ID:160728; OMIM: 608044; Uniprot ID:SC5A8_HUMAN; ENSEMBL ID: ENSG00000139357; HGNC ID: 19119
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC5A8|160728|nucleotide
ATGGACACGCCACGGGGCATCGGCACCTTCGTGGTGTGGGACTACGTGGTGTTCGCGGGCATGCTGGTCATCTCGGCCGCCATCGGCATCTACTACGCCTTCGCT
GGGGGCGGCCAGCAGACCTCCAAGGACTTCCTGATGGGCGGCCGCAGAATGACCGCAGTGCCCGTGGCGCTGTCCCTCACCGCTAGCTTCATGTCAGCCGTCACT
GTCCTGGGCACCCCCTCCGAGGTCTACCGTTTTGGGGCCATTTTTAGCATCTTTGCCTTCACCTACTTCTTTGTGGTGGTCATCAGCGCGGAGGTCTTCCTCCCG
GTGTTCTACAAACTGGGAATTACCAGCACCTACGAGTATTTAGAACTTCGATTTAACAAATGTGTTCGTCTCTGTGGAACAGTCCTCTTCATTGTTCAAACAATT
CTGTATACTGGAATTGTTATTTATGCCCCTGCCCTGGCTTTGAATCAAGTCACAGGATTTGATCTGTGGGGCGCGGTAGTGGCAACGGGGGTGGTCTGCACATTC
TACTGCACACTGGGTGGTCTTAAAGCAGTTATCTGGACAGATGTTTTTCAAGTTGGGATCATGGTGGCTGGATTTGCATCCGTGATTATACAGGCTGTGGTGATG
CAAGGTGGAATCAGCACTATTTTAAATGATGCCTATGATGGTGGAAGATTAAATTTCTGGAATTTTAATCCTAACCCTTTGCAAAGACACACCTTCTGGACAATT
ATTATAGGAGGGACCTTCACATGGACCAGCATCTACGGTGTCAACCAATCCCAGGTGCAGAGATATATTTCTTGTAAAAGCAGATTCCAGGCAAAACTGTCTCTC
TACATCAATCTTGTGGGACTCTGGGCAATCCTCACATGCTCAGTGTTTTGTGGGCTCGCCCTATATTCCAGGTACCATGACTGTGATCCTTGGACAGCCAAGAAA
GTGTCTGCACCAGACCAGCTCATGCCTTATTTGGTACTGGACATTCTGCAAGATTATCCAGGACTTCCTGGACTTTTTGTGGCCTGTGCTTACAGTGGGACATTA
AGCACAGTGTCCTCCAGTATTAATGCCTTAGCAGCAGTAACTGTGGAAGATCTAATCAAACCTTACTTCAGATCGCTCTCAGAAAGGTCTCTGTCTTGGATTTCC
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>SLC5A8|160728|protein
MDTPRGIGTFVVWDYVVFAGMLVISAAIGIYYAFAGGGQQTSKDFLMGGRRMTAVPVALSLTASFMSAVTVLGTPSEVYRFGAIFSIFAFTYFFVVVISAEVFLP
VFYKLGITSTYEYLELRFNKCVRLCGTVLFIVQTILYTGIVIYAPALALNQVTGFDLWGAVVATGVVCTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVM
QGGISTILNDAYDGGRLNFWNFNPNPLQRHTFWTIIIGGTFTWTSIYGVNQSQVQRYISCKSRFQAKLSLYINLVGLWAILTCSVFCGLALYSRYHDCDPWTAKK
VSAPDQLMPYLVLDILQDYPGLPGLFVACAYSGTLSTVSSSINALAAVTVEDLIKPYFRSLSERSLSWISQGMSVVYGALCIGMAALASLMGALLQAALSVFGMV
GGPLMGLFALGILVPFANSIGALVGLMAGFAISLWVGIGAQIYPPLPERTLPLHLDIQGCNSTYNETNLMTTTEMPFTTSVFQIYNVQRTPLMDNWYSLSYLYFS
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top