AutismKB 2.0

Evidence Details for PIAS1


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Basic Information Top
Gene Symbol:PIAS1 ( DDXBP1,GBP,GU/RH-II,MGC141878,MGC141879,ZMIZ3 )
Gene Full Name: protein inhibitor of activated STAT, 1
Band: 15q23
Quick LinksEntrez ID:8554; OMIM: 603566; Uniprot ID:PIAS1_HUMAN; ENSEMBL ID: ENSG00000033800; HGNC ID: 2752
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIAS1|8554|nucleotide
ATGGCGGACAGTGCGGAACTAAAGCAAATGGTTATGAGCCTTAGAGTTTCTGAACTCCAAGTACTGTTGGGCTACGCCGGGAGAAACAAGCACGGACGCAAACAC
GAACTTCTCACAAAAGCCCTGCATTTGCTAAAGGCTGGCTGTAGTCCTGCTGTGCAAATGAAAATTAAGGAACTCTATAGGCGGCGGTTCCCACAGAAAATCATG
ACGCCTGCAGACTTGTCCATCCCCAACGTACATTCAAGTCCTATGCCAGCAACTTTGTCTCCATCTACCATTCCACAACTCACTTACGATGGTCACCCTGCATCA
TCGCCATTACTCCCTGTTTCTCTTCTGGGACCTAAACATGAACTGGAACTCCCACATCTTACATCAGCTCTTCACCCAGTCCATCCGGATATAAAACTTCAAAAA
TTACCATTTTATGATTTACTGGATGAACTGATAAAACCCACCAGTCTAGCATCAGACAACAGTCAGCGCTTTCGAGAAACCTGTTTTGCATTTGCCTTGACACCA
CAACAAGTGCAGCAAATCAGTAGTTCCATGGATATTTCTGGGACCAAATGTGACTTCACAGTACAGGTCCAGTTAAGGTTTTGTTTATCAGAAACCAGTTGTCCA
CAAGAAGATCACTTCCCACCCAATCTTTGTGTGAAAGTGAATACAAAACCTTGCAGCCTTCCAGGTTACCTTCCACCTACAAAAAATGGCGTGGAACCAAAGCGA
CCCAGCCGACCAATTAATATCACCTCACTTGTCCGACTGTCCACAACAGTACCAAACACGATTGTTGTTTCTTGGACTGCAGAAATTGGAAGAAACTATTCCATG
GCAGTATATCTTGTAAAACAGTTGTCCTCAACAGTTCTTCTTCAGAGGTTACGAGCAAAGGGAATAAGGAATCCGGATCATTCTAGAGCTTTAATTAAAGAGAAG
TTGACTGCGGATCCAGACAGTGAAATAGCTACAACCAGCCTAAGGGTTTCTCTACTATGTCCACTTGGTAAAATGCGGCTGACAATTCCGTGTCGGGCCCTTACA
TGTTCTCATCTACAATGTTTTGACGCAACTCTTTACATTCAGATGAATGAGAAAAAACCAACCTGGGTTTGTCCTGTCTGTGATAAGAAGGCTCCATATGAACAC
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>PIAS1|8554|protein
MADSAELKQMVMSLRVSELQVLLGYAGRNKHGRKHELLTKALHLLKAGCSPAVQMKIKELYRRRFPQKIMTPADLSIPNVHSSPMPATLSPSTIPQLTYDGHPAS
SPLLPVSLLGPKHELELPHLTSALHPVHPDIKLQKLPFYDLLDELIKPTSLASDNSQRFRETCFAFALTPQQVQQISSSMDISGTKCDFTVQVQLRFCLSETSCP
QEDHFPPNLCVKVNTKPCSLPGYLPPTKNGVEPKRPSRPINITSLVRLSTTVPNTIVVSWTAEIGRNYSMAVYLVKQLSSTVLLQRLRAKGIRNPDHSRALIKEK
LTADPDSEIATTSLRVSLLCPLGKMRLTIPCRALTCSHLQCFDATLYIQMNEKKPTWVCPVCDKKAPYEHLIIDGLFMEILKYCTDCDEIQFKEDGTWAPMRSKK
EVQEVSASYNGVDGCLSSTLEHQVASHHQSSNKNKKVEVIDLTIDSSSDEEEEEPSAKRTCPSLSPTSPLNNKGILSLPHQASPVSRTPSLPAVDTSYINTSLIQ
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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 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top