AutismKB 2.0

Evidence Details for SLC30A5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC30A5 ( FLJ12496,FLJ12756,MGC5499,ZNT5,ZNTL1,ZTL1,ZnT-5 )
Gene Full Name: solute carrier family 30 (zinc transporter), member 5
Band: 5q13.1-q13.2
Quick LinksEntrez ID:64924; OMIM: 607819; Uniprot ID:ZNT5_HUMAN; ENSEMBL ID: ENSG00000145740; HGNC ID: 19089
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC30A5|64924|nucleotide
ATGGAGGAGAAATACGGCGGGGACGTGCTGGCCGGCCCCGGCGGCGGCGGCGGCCTTGGGCCGGTGGACGTACCCAGCGCTCGATTAACAAAATATATTGTGTTA
CTATGTTTCACTAAATTTTTGAAGGCTGTGGGACTTTTCGAATCATATGATCTCCTAAAAGCTGTTCACATTGTTCAGTTCATTTTTATATTAAAACTTGGGACT
GCATTTTTTATGGTTTTGTTTCAAAAGCCATTTTCTTCTGGGAAAACTATTACCAAACACCAGTGGATCAAAATATTTAAACATGCAGTTGCTGGGTGTATTATT
TCACTCTTGTGGTTTTTTGGCCTCACTCTTTGTGGACCACTAAGGACTTTGCTGCTATTTGAGCACAGTGATATTGTTGTCATTTCACTACTCAGTGTTTTGTTC
ACCAGTTCTGGAGGAGGACCAGCAAAGACAAGGGGAGCTGCTTTTTTCATTATTGCTGTGATCTGTTTATTGCTTTTTGACAATGATGATCTCATGGCTAAAATG
GCTGAACACCCTGAAGGACATCATGACAGTGCTCTAACTCATATGCTTTACACAGCCATTGCCTTCTTAGGTGTGGCAGATCACAAGGGTGGAGTATTATTGCTA
GTACTGGCTTTGTGTTGTAAAGTTGGTTTTCATACAGCTTCCAGAAAGCTCTCTGTCGACGTTGGTGGAGCTAAACGTCTTCAAGCTTTATCTCATCTTGTTTCT
GTGCTTCTCTTGTGCCCATGGGTCATTGTTCTTTCTGTGACAACTGAGAGTAAAGTGGAGTCTTGGTTTTCTCTCATTATGCCTTTTGCAACGGTTATCTTTTTT
GTCATGATCCTGGATTTCTACGTGGATTCCATTTGTTCAGTCAAAATGGAAGTTTCCAAATGTGCTCGTTATGGATCCTTTCCCATTTTTATTAGTGCTCTCCTT
TTTGGAAATTTTTGGACACATCCAATAACAGACCAGCTTCGGGCTATGAACAAAGCAGCACACCAGGAGAGCACTGAACACGTCCTGTCTGGAGGAGTGGTAGTG
AGTGCTATATTCTTCATTTTGTCTGCCAATATCTTATCATCTCCCTCTAAGAGAGGACAAAAAGGTACCCTTATTGGATATTCTCCTGAAGGAACACCTCTTTAT
Show »

>SLC30A5|64924|protein
MEEKYGGDVLAGPGGGGGLGPVDVPSARLTKYIVLLCFTKFLKAVGLFESYDLLKAVHIVQFIFILKLGTAFFMVLFQKPFSSGKTITKHQWIKIFKHAVAGCII
SLLWFFGLTLCGPLRTLLLFEHSDIVVISLLSVLFTSSGGGPAKTRGAAFFIIAVICLLLFDNDDLMAKMAEHPEGHHDSALTHMLYTAIAFLGVADHKGGVLLL
VLALCCKVGFHTASRKLSVDVGGAKRLQALSHLVSVLLLCPWVIVLSVTTESKVESWFSLIMPFATVIFFVMILDFYVDSICSVKMEVSKCARYGSFPIFISALL
FGNFWTHPITDQLRAMNKAAHQESTEHVLSGGVVVSAIFFILSANILSSPSKRGQKGTLIGYSPEGTPLYNFMGDAFQHSSQSIPRFIKESLKQILEESDSRQIF
YFLCLNLLFTFVELFYGVLTNSLGLISDGFHMLFDCSALVMGLFAALMSRWKATRIFSYGYGRIEILSGFINGLFLIVIAFFVFMESVARLIDPPELDTHMLTPV
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 0 (0) 0 (0) 1 (1) 2 (2) 0 (0) 0 (0) 0 (0) 21 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.546 Up 0.0403
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 218989_x_at
  • RefSeq_ID/ EST: NM_022902
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2011 - 20 21 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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