AutismKB 2.0

Evidence Details for SLC39A5


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Basic Information Top
Gene Symbol:SLC39A5 ( LZT-Hs7,MGC34778,ZIP5 )
Gene Full Name: solute carrier family 39 (metal ion transporter), member 5
Band: 12q13.3
Quick LinksEntrez ID:283375; OMIM: 608730; Uniprot ID:S39A5_HUMAN; ENSEMBL ID: ENSG00000139540; HGNC ID: 20502
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC39A5|283375|nucleotide
ATGATGGGGTCCCCAGTGAGTCATCTGCTGGCCGGCTTCTGTGTGTGGGTCGTCTTGGGCTGGGTAGGGGGCTCAGTCCCCAACCTGGGCCCTGCTGAGCAGGAG
CAGAACCATTACCTGGCCCAGCTGTTTGGCCTGTACGGCGAGAATGGGACGCTGACTGCAGGGGGCTTGGCGCGGCTTCTCCACAGCCTGGGGCTAGGCCGAGTT
CAGGGGCTTCGCCTGGGACAGCATGGGCCTCTGACTGGACGGGCTGCATCCCCAGCTGCAGACAATTCCACACACAGGCCACAGAACCCTGAGCTGAGTGTGGAT
GTCTGGGCAGGGATGCCTCTGGGTCCCTCAGGGTGGGGTGACCTGGAAGAGTCAAAGGCCCCTCACCTACCCCGTGGGCCAGCCCCCTCGGGCCTGGACCTCCTT
CACAGGCTTCTGTTGCTGGACCACTCATTGGCTGACCACCTGAATGAGGATTGTCTGAACGGCTCCCAGCTGCTGGTCAATTTTGGCTTGAGCCCCGCTGCTCCT
CTGACCCCTCGTCAGTTTGCTCTGCTGTGCCCAGCCCTGCTTTATCAGATCGACAGCCGCGTCTGCATCGGCGCTCCGGCCCCTGCACCCCCAGGGGATCTACTA
TCTGCCCTGCTTCAGAGTGCCCTGGCAGTCCTGTTGCTCAGCCTCCCTTCTCCCCTATCCCTGCTGCTGCTGCGGCTCCTGGGACCTCGTCTACTACGGCCCTTG
CTGGGCTTCCTGGGGGCCCTGGCGGTGGGCACTCTTTGTGGGGATGCACTGCTACATCTGCTACCGCATGCACAAGAAGGGCGGCACGCAGGACCTGGCGGACTA
CCAGAGAAGGACCTGGGCCCGGGGCTGTCAGTGCTCGGAGGCCTCTTCCTGCTCTTTGTGCTGGAGAACATGCTGGGGCTTTTGCGGCACCGAGGGCTCAGGCCA
AGATGCTGCAGGCGAAAACGAAGGAATCTCGAAACACGCAACTTGGATCCGGAGAATGGCAGTGGGATGGCCCTTCAGCCCCTACAGGCAGCTCCAGAGCCAGGG
GCTCAGGGCCAGAGGGAGAAGAACAGCCAGCACCCACCAGCTCTGGCCCCTCCTGGGCACCAAGGCCACAGTCATGGGCACCAGGGTGGCACTGATATCACGTGG
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>SLC39A5|283375|protein
MMGSPVSHLLAGFCVWVVLGWVGGSVPNLGPAEQEQNHYLAQLFGLYGENGTLTAGGLARLLHSLGLGRVQGLRLGQHGPLTGRAASPAADNSTHRPQNPELSVD
VWAGMPLGPSGWGDLEESKAPHLPRGPAPSGLDLLHRLLLLDHSLADHLNEDCLNGSQLLVNFGLSPAAPLTPRQFALLCPALLYQIDSRVCIGAPAPAPPGDLL
SALLQSALAVLLLSLPSPLSLLLLRLLGPRLLRPLLGFLGALAVGTLCGDALLHLLPHAQEGRHAGPGGLPEKDLGPGLSVLGGLFLLFVLENMLGLLRHRGLRP
RCCRRKRRNLETRNLDPENGSGMALQPLQAAPEPGAQGQREKNSQHPPALAPPGHQGHSHGHQGGTDITWMVLLGDGLHNLTDGLAIGAAFSDGFSSGLSTTLAV
FCHELPHELGDFAMLLQSGLSFRRLLLLSLVSGALGLGGAVLGVGLSLGPVPLTPWVFGVTAGVFLYVALVDMLPALLRPPEPLPTPHVLLQGLGLLLGGGLMLA
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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 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 20 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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