AutismKB 2.0

Evidence Details for SLC39A12


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Basic Information Top
Gene Symbol:SLC39A12 ( FLJ30499,MGC43205,MGC51099,bA570F3.1 )
Gene Full Name: solute carrier family 39 (zinc transporter), member 12
Band: 10p12.33
Quick LinksEntrez ID:221074; OMIM: 608734; Uniprot ID:S39AC_HUMAN; ENSEMBL ID: ENSG00000148482; HGNC ID: 20860
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC39A12|221074|nucleotide
ATGTGCTTCCGGACAAAGCTCTCAGTATCCTGGGTGCCATTGTTTCTTCTACTCAGCCGTGTTTTTTCTACTGAGACAGACAAACCCTCAGCCCAGGATAGCAGA
AGCCGTGGGAGTTCAGGCCAACCGGCAGACCTGCTACAGGTTCTCTCTGCTGGTGACCACCCACCCCACAACCACTCAAGAAGCCTCATCAAAACATTGTTGGAG
AAAACTGGGTGCCCACGGAGGAGAAACGGAATGCAAGGAGATTGCAATCTGTGCTTTGAACCAGATGCACTATTACTAATAGCTGGAGGAAATTTTGAAGATCAG
CTTAGAGAAGAAGTGGTCCAGAGAGTTTCTCTTCTCCTTCTCTATTACATTATTCATCAGGAAGAGATCTGTTCTTCAAAGCTCAACATGAGTAATAAAGAGTAT
AAATTTTACCTACACAGCCTACTGAGCCTCAGGCAGGATGAAGATTCCTCTTTCCTTTCACAGAATGAGACAGAAGATATCTTGGCTTTCACCAGGCAGTACTTT
GACACTTCTCAAAGCCAGTGTATGGAAACCAAAACGCTGCAGAAAAAATCTGGAATAGTGAGCAGTGAAGGTGCTAATGAAAGTACGCTTCCTCAGTTGGCAGCC
ATGATCATTACTTTGTCCCTCCAGGGTGTTTGTCTGGGACAAGGAAACTTGCCTTCCCCAGACTACTTTACAGAATATATTTTCAGTTCCTTGAATCGTACGAAT
ACCCTCCGCCTATCAGAACTAGACCAACTCCTCAACACTCTCTGGACCAGAAGTACTTGTATCAAAAATGAGAAAATCCATCAATTTCAAAGGAAACAAAACAAC
ATAATAACCCATGATCAGGACTATTCTAATTTCTCTTCATCCATGGAAAAAGAGTCTGAGGATGGTCCAGTTTCCTGGGATCAGACCTGCTTCTCTGCTAGGCAG
CTGGTGGAGATATTTCTACAGAAGGGCCTCTCACTCATTTCTAAGGAGGACTTTAAGCAAATGAGTCCAGGGATCATCCAGCAGCTCCTCAGCTGCTCCTGCCAC
TTACCCAAGGACCAACAAGCAAAGCTGCCACCTACCACTCTGGAGAAATACGGCTACAGCACGGTGGCTGTCACCCTTCTCACACTGGGCTCCATGCTGGGGACA
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>SLC39A12|221074|protein
MCFRTKLSVSWVPLFLLLSRVFSTETDKPSAQDSRSRGSSGQPADLLQVLSAGDHPPHNHSRSLIKTLLEKTGCPRRRNGMQGDCNLCFEPDALLLIAGGNFEDQ
LREEVVQRVSLLLLYYIIHQEEICSSKLNMSNKEYKFYLHSLLSLRQDEDSSFLSQNETEDILAFTRQYFDTSQSQCMETKTLQKKSGIVSSEGANESTLPQLAA
MIITLSLQGVCLGQGNLPSPDYFTEYIFSSLNRTNTLRLSELDQLLNTLWTRSTCIKNEKIHQFQRKQNNIITHDQDYSNFSSSMEKESEDGPVSWDQTCFSARQ
LVEIFLQKGLSLISKEDFKQMSPGIIQQLLSCSCHLPKDQQAKLPPTTLEKYGYSTVAVTLLTLGSMLGTALVLFHSCEENYRLILQLFVGLAVGTLSGDALLHL
IPQVLGLHKQEAPEFGHFHESKGHIWKLMGLIGGIHGFFLIEKCFILLVSPNDKQGLSLVNGHVGHSHHLALNSELSDQAGRGKSASTIQLKSPEDSQAAEMPIG
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top