AutismKB 2.0

Evidence Details for SLC41A2


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Basic Information Top
Gene Symbol:SLC41A2 ( DKFZp434K0427,MGC125330,MGC125331,SLC41A1-L1 )
Gene Full Name: solute carrier family 41, member 2
Band: 12q23.3
Quick LinksEntrez ID:84102; OMIM: 610802; Uniprot ID:S41A2_HUMAN; ENSEMBL ID: ENSG00000136052; HGNC ID: 31045
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC41A2|84102|nucleotide
ATGACTAATAGTAAAGGAAGATCTATTACCGATAAAACAAGTGGTGGTCCAAGTAGTGGAGGAGGTTTTGTAGATTGGACTTTACGTTTAAACACAATTCAATCC
GACAAGTTTTTAAATTTACTCTTGAGTATGGTTCCAGTGATTTACCAGAAAAACCAAGAAGACAGGCACAAAAAAGCAAACGGCATTTGGCAAGATGGATTATCA
ACTGCAGTACAGACTTTTAGTAATAGATCTGAGCAACACATGGAGTATCACAGTTTCTCAGAGCAGTCTTTTCATGCCAATAATGGGCACGCATCATCAAGCTGC
AGCCAAAAGTATGATGACTATGCCAATTATAATTACTGTGATGGAAGGGAGACTTCAGAAACCACTGCCATGTTACAAGATGAAGATATATCTAGTGATGGTGAT
GAAGATGCTATTGTAGAAGTGACCCCAAAATTACCAAAGGAATCCAGTGGCATCATGGCATTGCAAATACTTGTGCCCTTTTTGCTAGCTGGTTTTGGAACAGTT
TCAGCTGGCATGGTACTGGATATAGTACAGCACTGGGAGGTGTTCAGAAAAGTTACAGAAGTTTTCATTTTAGTCCCTGCACTTCTTGGTCTCAAAGGGAACTTG
GAAATGACATTGGCATCCAGATTATCCACTGCAGTAAATATTGGGAAGATGGATTCACCCATTGAAAAGTGGAACCTAATAATTGGCAACTTGGCTTTAAAGCAG
GTTCAGGCAACAGTAGTGGGTTTTCTAGCAGCTGTGGCAGCAATTATATTGGGCTGGATTCCAGAAGGAAAATATTACCTTGATCATTCCATACTTCTGTGCTCT
AGCAGTGTGGCAACTGCCTTCATTGCATCTCTTCTGCAGGGAATAATAATGGTTGGGGTTATCGTTGGTTCAAAGAAGACTGGTATAAATCCTGATAATGTTGCT
ACACCCATTGCTGCTAGTTTTGGCGACCTTATAACTCTTGCCATATTGGCTTGGATAAGTCAGGGCTTATACTCCTGTCTTGAGACCTATTACTACATTTCTCCA
TTAGTTGGTGTATTTTTCTTGGCTCTAACCCCTATTTGGATTATAATAGCTGCCAAACATCCAGCCACAAGAACAGTTCTCCACTCAGGCTGGGAGCCTGTCATA
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>SLC41A2|84102|protein
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRSEQHMEYHSFSEQSFHANNGHASSSC
SQKYDDYANYNYCDGRETSETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMALQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNL
EMTLASRLSTAVNIGKMDSPIEKWNLIIGNLALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVA
TPIAASFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDTTVSDPNLVGIVVYTPVINGI
GGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGHLIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVH
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Linkage Studies Top