AutismKB 2.0

Evidence Details for SLC6A3


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Basic Information Top
Gene Symbol:SLC6A3 ( DAT,DAT1 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Band: 5p15.33
Quick LinksEntrez ID:6531; OMIM: 126455; Uniprot ID:SC6A3_HUMAN; ENSEMBL ID: ENSG00000142319; HGNC ID: 11049
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC6A3|6531|nucleotide
ATGAGTAAGAGCAAATGCTCCGTGGGACTCATGTCTTCCGTGGTGGCCCCGGCTAAGGAGCCCAATGCCGTGGGCCCGAAGGAGGTGGAGCTCATCCTTGTCAAG
GAGCAGAACGGAGTGCAGCTCACCAGCTCCACCCTCACCAACCCGCGGCAGAGCCCCGTGGAGGCCCAGGATCGGGAGACCTGGGGCAAGAAGATCGACTTTCTC
CTGTCCGTCATTGGCTTTGCTGTGGACCTGGCCAACGTCTGGCGGTTCCCCTACCTGTGCTACAAAAATGGTGGCGGTGCCTTCCTGGTCCCCTACCTGCTCTTC
ATGGTCATTGCTGGGATGCCACTTTTCTACATGGAGCTGGCCCTCGGCCAGTTCAACAGGGAAGGGGCCGCTGGTGTCTGGAAGATCTGCCCCATACTGAAAGGT
GTGGGCTTCACGGTCATCCTCATCTCACTGTATGTCGGCTTCTTCTACAACGTCATCATCGCCTGGGCGCTGCACTATCTCTTCTCCTCCTTCACCACGGAGCTC
CCCTGGATCCACTGCAACAACTCCTGGAACAGCCCCAACTGCTCGGATGCCCATCCTGGTGACTCCAGTGGAGACAGCTCGGGCCTCAACGACACTTTTGGGACC
ACACCTGCTGCCGAGTACTTTGAACGTGGCGTGCTGCACCTCCACCAGAGCCATGGCATCGACGACCTGGGGCCTCCGCGGTGGCAGCTCACAGCCTGCCTGGTG
CTGGTCATCGTGCTGCTCTACTTCAGCCTCTGGAAGGGCGTGAAGACCTCAGGGAAGGTGGTATGGATCACAGCCACCATGCCATACGTGGTCCTCACTGCCCTG
CTCCTGCGTGGGGTCACCCTCCCTGGAGCCATAGACGGCATCAGAGCATACCTGAGCGTTGACTTCTACCGGCTCTGCGAGGCGTCTGTTTGGATTGACGCGGCC
ACCCAGGTGTGCTTCTCCCTGGGCGTGGGGTTCGGGGTGCTGATCGCCTTCTCCAGCTACAACAAGTTCACCAACAACTGCTACAGGGACGCGATTGTCACCACC
TCCATCAACTCCCTGACGAGCTTCTCCTCCGGCTTCGTCGTCTTCTCCTTCCTGGGGTACATGGCACAGAAGCACAGTGTGCCCATCGGGGACGTGGCCAAGGAC
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>SLC6A3|6531|protein
MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDRETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLF
MVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGT
TPAAEYFERGVLHLHQSHGIDDLGPPRWQLTACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVDFYRLCEASVWIDAA
TQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKHSVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGI
DSAMGGMESVITGLIDEFQLLHRHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAAGTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWK
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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 (3) 0 (0) 0 (1) 0 (0) 2 (2) 0 (0) 0 (0) 1 (1) 30 (7)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top