AutismKB 2.0

Evidence Details for PIAS2


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Basic Information Top
Gene Symbol:PIAS2 ( MGC102682,MIZ1,PIASX,PIASX-ALPHA,PIASX-BETA,SIZ2,ZMIZ4,miz )
Gene Full Name: protein inhibitor of activated STAT, 2
Band: 18q21.1
Quick LinksEntrez ID:9063; OMIM: 603567; Uniprot ID:PIAS2_HUMAN; ENSEMBL ID: ENSG00000078043; HGNC ID: 17311
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIAS2|9063|nucleotide
ATGGCGGATTTCGAAGAGTTGAGGAATATGGTTTCTAGTTTTAGGGTTTCTGAACTACAAGTATTACTAGGCTTTGCTGGACGGAATAAAAGTGGACGCAAGCAT
GACCTCCTGATGAGGGCGCTGCATTTATTGAAGAGCGGCTGCAGCCCTGCGGTTCAGATTAAAATCCGAGAATTGTATAGACGCCGATATCCACGAACTCTTGAA
GGACTTTCTGATTTATCCACAATCAAATCATCGGTTTTCAGTTTGGATGGTGGCTCATCACCTGTAGAACCTGACTTGGCCGTGGCTGGAATCCACTCGTTGCCT
TCCACTTCAGTTACACCTCACTCACCATCCTCTCCTGTTGGTTCTGTGCTGCTTCAAGATACTAAGCCCACATTTGAGATGCAGCAGCCATCTCCCCCAATTCCT
CCTGTCCATCCTGATGTGCAGTTAAAAAATCTGCCCTTTTATGATGTCCTTGATGTTCTCATCAAGCCCACGAGTTTAGTTCAAAGCAGTATTCAGCGATTTCAA
GAGAAGTTTTTTATTTTTGCTTTGACACCTCAACAAGTTAGAGAGATATGCATATCCAGGGATTTTTTGCCAGGTGGTAGGAGAGATTATACAGTCCAAGTTCAG
TTGAGACTTTGCCTGGCAGAGACAAGTTGCCCTCAAGAAGATAACTATCCAAATAGTCTATGTATAAAAGTAAATGGGAAGCTATTTCCTTTGCCTGGCTATGCA
CCACCGCCTAAAAATGGGATTGAACAGAAGCGCCCTGGACGCCCCTTGAATATTACATCTTTAGTTAGGTTATCTTCAGCTGTGCCAAACCAAATTTCCATTTCT
TGGGCATCAGAAATTGGGAAGAATTACTCTATGTCTGTATATCTTGTACGGCAGCTTACATCAGCCATGTTATTACAGAGATTAAAAATGAAAGGTATTAGAAAC
CCTGATCATTCCAGAGCACTAATTAAAGAAAAACTTACTGCAGATCCTGATAGTGAAATTGCTACAACTAGCCTTCGGGTATCCTTGATGTGCCCTTTAGGAAAA
ATGAGGCTGACAATCCCATGCCGTGCAGTGACTTGTACACATCTGCAGTGTTTTGATGCTGCCCTCTATCTACAAATGAATGAGAAAAAGCCCACCTGGATTTGT
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>PIAS2|9063|protein
MADFEELRNMVSSFRVSELQVLLGFAGRNKSGRKHDLLMRALHLLKSGCSPAVQIKIRELYRRRYPRTLEGLSDLSTIKSSVFSLDGGSSPVEPDLAVAGIHSLP
STSVTPHSPSSPVGSVLLQDTKPTFEMQQPSPPIPPVHPDVQLKNLPFYDVLDVLIKPTSLVQSSIQRFQEKFFIFALTPQQVREICISRDFLPGGRRDYTVQVQ
LRLCLAETSCPQEDNYPNSLCIKVNGKLFPLPGYAPPPKNGIEQKRPGRPLNITSLVRLSSAVPNQISISWASEIGKNYSMSVYLVRQLTSAMLLQRLKMKGIRN
PDHSRALIKEKLTADPDSEIATTSLRVSLMCPLGKMRLTIPCRAVTCTHLQCFDAALYLQMNEKKPTWICPVCDKKAAYESLILDGLFMEILNDCSDVDEIKFQE
DGSWCPMRPKKEAMKVSSQPCTKIESSSVLSKPCSVTVASEASKKKVDVIDLTIESSSDEEEDPPAKRKCIFMSETQSSPTKGVLMYQPSSVRVPSVTSVDPAAI
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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 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.755044 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1694799
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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