AutismKB 2.0

Evidence Details for SLC25A6


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Basic Information Top
Gene Symbol:SLC25A6 ( AAC3,ANT3,ANT3Y,MGC17525 )
Gene Full Name: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6
Band: Xp22.32 and Yp11.3
Quick LinksEntrez ID:293; OMIM: 300151,403000; Uniprot ID:ADT3_HUMAN; ENSEMBL ID: ENSG00000169100; HGNC ID: 10992
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC25A6|293|nucleotide
ATGACGGAACAGGCCATCTCCTTCGCCAAAGACTTCTTGGCCGGAGGCATCGCCGCCGCCATCTCCAAGACGGCCGTGGCTCCGATCGAGCGGGTCAAGCTGCTG
CTGCAGGTCCAGCACGCCAGCAAGCAGATCGCCGCCGACAAGCAGTACAAGGGCATCGTGGACTGCATTGTCCGCATCCCCAAGGAGCAGGGCGTGCTGTCCTTC
TGGAGGGGCAACCTTGCCAACGTCATTCGCTACTTCCCCACTCAAGCCCTCAACTTCGCCTTCAAGGATAAGTACAAGCAGATCTTCCTGGGGGGCGTGGACAAG
CACACGCAGTTCTGGAGGTACTTTGCGGGCAACCTGGCCTCCGGCGGTGCGGCCGGCGCGACCTCCCTCTGCTTCGTGTACCCGCTGGATTTCGCCAGAACCCGC
CTGGCAGCGGACGTGGGAAAGTCAGGCACAGAGCGCGAGTTCCGAGGCCTGGGAGACTGCCTGGTGAAGATCACCAAGTCCGACGGCATCCGGGGCCTGTACCAG
GGCTTCAGTGTCTCCGTGCAGGGCATCATCATCTACCGGGCGGCCTACTTCGGCGTGTACGATACGGCCAAGGGCATGCTCCCCGACCCCAAGAACACGCACATC
GTGGTGAGCTGGATGATCGCGCAGACCGTGACGGCCGTGGCCGGCGTGGTGTCCTACCCCTTCGACACGGTGCGGCGGCGCATGATGATGCAGTCCGGGCGCAAA
GGAGCTGACATCATGTACACGGGCACCGTCGACTGTTGGAGGAAGATCTTCAGAGATGAGGGGGGCAAGGCCTTCTTCAAGGGTGCGTGGTCCAACGTCCTGCGG
GGCATGGGGGGCGCCTTCGTGCTGGTCCTGTACGACGAGCTCAAGAAGGTGATCTAA


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>SLC25A6|293|protein
MTEQAISFAKDFLAGGIAAAISKTAVAPIERVKLLLQVQHASKQIAADKQYKGIVDCIVRIPKEQGVLSFWRGNLANVIRYFPTQALNFAFKDKYKQIFLGGVDK
HTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKSGTEREFRGLGDCLVKITKSDGIRGLYQGFSVSVQGIIIYRAAYFGVYDTAKGMLPDPKNTHI
VVSWMIAQTVTAVAGVVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIFRDEGGKAFFKGAWSNVLRGMGGAFVLVLYDELKKVI


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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Thomas, 1999 - FISHautism - - - - 3 - 3
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top