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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018