AutismKB 2.0

Evidence Details for SLC39A11


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Basic Information Top
Gene Symbol:SLC39A11 ( C17orf26,ZIP11 )
Gene Full Name: solute carrier family 39 (metal ion transporter), member 11
Band: 17q24.3-q25.1
Quick LinksEntrez ID:201266; OMIM: NA; Uniprot ID:S39AB_HUMAN; ENSEMBL ID: ENSG00000133195; HGNC ID: 14463
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC39A11|201266|nucleotide
ATGCTCCAAGGCCACAGCTCTGTGTTCCAGGCCTTGCTGGGGACCTTCTTCACCTGGGGGATGACAGCAGCTGGGGCAGCTCTCGTGTTCGTATTCTCTAGTGGA
CAGAGGCGGATCTTAGATGGAAGTCTTGGCTTTGCTGCAGGGGTCATGTTGGCAGCTTCCTATTGGTCTCTTCTGGCCCCAGCAGTTGAGATGGCCACGTCCTCT
GGGGGCTTCGGTGCCTTTGCCTTCTTCCCTGTGGCTGTTGGCTTCACCCTTGGAGCGGCTTTTGTCTACTTGGCTGACCTCCTGATGCCTCACTTGGGTGCAGCA
GAAGACCCCCAGACGACCCTGGCACTGAACTTCGGCTCTACGTTGATGAAGAAGAAGTCTGATCCTGAGGGTCCCGCGCTGCTCTTCCCTGAGAGTGAACTTTCC
ATCCGGATAGGTAGAGCTGGGCTTCTTTCAGACAAGAGTGAGAATGGTGAGGCATATCAGAGAAAGAAGGCGGCAGCCACTGGCCTTCCAGAGGGTCCTGCTGTC
CCTGTGCCTTCTCGAGGGAATCTGGCACAGCCCGGCGGCAGCAGCTGGAGGAGGATCGCACTGCTCATCTTGGCCATCACTATACACAACGTTCCAGAGGGTCTC
GCTGTTGGAGTTGGATTTGGGGCTATAGAAAAGACGGCATCTGCTACCTTTGAGAGTGCCAGGAATTTGGCCATTGGAATCGGGATCCAGAATTTCCCCGAGGGC
CTGGCTGTCAGCCTTCCCTTGCGAGGGGCAGGCTTCTCCACCTGGAGAGCTTTCTGGTATGGGCAGCTGAGCGGCATGGTGGAGCCCCTGGCCGGGGTCTTTGGT
GCCTTTGCCGTGGTGCTGGCTGAGCCCATCCTGCCCTACGCTCTGGCCTTTGCTGCCGGTGCCATGGTCTACGTGGTCATGGACGACATCATCCCCGAAGCCCAG
ATCAGTGGTAATGGGAAACTGGCATCCTGGGCCTCCATCCTGGGATTTGTAGTGATGATGTCACTGGACGTTGGCCTGGGCTAG

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>SLC39A11|201266|protein
MLQGHSSVFQALLGTFFTWGMTAAGAALVFVFSSGQRRILDGSLGFAAGVMLAASYWSLLAPAVEMATSSGGFGAFAFFPVAVGFTLGAAFVYLADLLMPHLGAA
EDPQTTLALNFGSTLMKKKSDPEGPALLFPESELSIRIGRAGLLSDKSENGEAYQRKKAAATGLPEGPAVPVPSRGNLAQPGGSSWRRIALLILAITIHNVPEGL
AVGVGFGAIEKTASATFESARNLAIGIGIQNFPEGLAVSLPLRGAGFSTWRAFWYGQLSGMVEPLAGVFGAFAVVLAEPILPYALAFAAGAMVYVVMDDIIPEAQ
ISGNGKLASWASILGFVVMMSLDVGLG

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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 1 (1) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 8 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
MIXED/OTHERS
Anney R, 2012_2 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 2705 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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