AutismKB 2.0

Evidence Details for SLC25A39


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Basic Information Top
Gene Symbol:SLC25A39 ( CGI69,FLJ22407 )
Gene Full Name: solute carrier family 25, member 39
Band: 17q21.31
Quick LinksEntrez ID:51629; OMIM: 610820; Uniprot ID:S2539_HUMAN; ENSEMBL ID: ENSG00000013306; HGNC ID: 24279
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC25A39|51629|nucleotide
ATGGCTGACCAGGACCCTGCGGGCATCAGCCCCCTCCAGCAAATGGTGGCCTCAGGCACCGGGGCTGTGGTTACCTCTCTCTTCATGACACCCCTGGACGTGGTG
AAGGTTCGCCTGCAGTCTCAGCGGCCCTCCATGGCCAGCGAGCTGATGCCTTCCTCCAGACTGTGGAGCCTCTCCTATACCAAATTGCCCTCCTCTCTCCAATCC
ACAGGGAAGTGCCTCCTGTATTGCAATGGTGTCCTGGAGCCTCTGTACCTGTGCCCAAATGGTGCCCGCTGTGCCACCTGGTTTCAAGACCCTACCCGCTTCACT
GGCACCATGGATGCCTTCGTGAAGATCGTGAGGCACGAGGGCACCAGGACCCTCTGGAGCGGCCTCCCCGCCACCCTGGTGATGACTGTGCCAGCTACCGCCATC
TACTTCACTGCCTATGACCAACTGAAGGCCTTCCTGTGTGGTCGAGCCCTGACCTCTGACCTCTACGCACCCATGGTGGCTGGCGCGCTGGCCCGCCTGGGCACC
GTGACTGTGATCAGCCCCCTGGAGCTTATGCGGACAAAGCTGCAGGCTCAGCATGTGTCGTACCGGGAGCTGGGTGCCTGTGTTCGAACTGCAGTGGCTCAGGGT
GGCTGGCGCTCACTGTGGCTGGGCTGGGGCCCCACTGCCCTTCGAGATGTGCCCTTCTCAGCCCTGTACTGGTTCAACTATGAGCTGGTGAAGAGCTGGCTCAAT
GGGTTCAGGCCGAAGGACCAGACTTCTGTGGGCATGAGCTTTGTGGCTGGTGGCATCTCAGGGACGGTGGCTGCAGTGCTGACTCTACCCTTTGACGTGGTAAAG
ACCCAACGCCAGGTCGCTCTGGGAGCGATGGAGGCTGTGAGAGTGAACCCCCTGCATGTGGACTCCACCTGGCTGCTGCTGCGGAGGATCCGGGCCGAGTCGGGC
ACCAAGGGACTCTTTGCAGGCTTCCTTCCTCGGATCATCAAGGCTGCCCCCTCCTGTGCCATCATGATCAGCACCTATGAGTTCGGCAAAAGCTTCTTCCAGAGG
CTGAACCAGGACCGGCTTCTGGGCGGCTGA
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>SLC25A39|51629|protein
MADQDPAGISPLQQMVASGTGAVVTSLFMTPLDVVKVRLQSQRPSMASELMPSSRLWSLSYTKLPSSLQSTGKCLLYCNGVLEPLYLCPNGARCATWFQDPTRFT
GTMDAFVKIVRHEGTRTLWSGLPATLVMTVPATAIYFTAYDQLKAFLCGRALTSDLYAPMVAGALARLGTVTVISPLELMRTKLQAQHVSYRELGACVRTAVAQG
GWRSLWLGWGPTALRDVPFSALYWFNYELVKSWLNGFRPKDQTSVGMSFVAGGISGTVAAVLTLPFDVVKTQRQVALGAMEAVRVNPLHVDSTWLLLRRIRAESG
TKGLFAGFLPRIIKAAPSCAIMISTYEFGKSFFQRLNQDRLLGG

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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 (0) 0 (0) 0 (0) 2 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top