AutismKB 2.0

Evidence Details for ZGPAT


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Basic Information Top
Gene Symbol:ZGPAT ( GPATC6,GPATCH6,KIAA1847,MGC44880,ZC3H9,ZC3HDC9,ZIP )
Gene Full Name: zinc finger, CCCH-type with G patch domain
Band: 20q13.33
Quick LinksEntrez ID:84619; OMIM: NA; Uniprot ID:ZGPAT_HUMAN; ENSEMBL ID: ENSG00000197114; HGNC ID: 15948
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZGPAT|84619|nucleotide
ATGGACGAGGAGAGCCTGGAGTCGGCCTTGCAGACCTACCGTGCGCAGCTGCAGCAGGTGGAGCTGGCCTTGGGCGCCGGCCTGGATTCGTCTGAGCAGGCTGAC
CTGCGCCAGCTGCAGGGGGACCTGAAGGAGCTCATCGAGCTCACCGAGGCCAGCCTGGTGTCTGTCAGGAAGAGCAGCTTGTTGGCCGCGCTGGACGAAGAGCGC
CCGGGCCGCCAGGAAGATGCTGAGTACCAGGCTTTCCGGGAGGCCATCACTGAGGCGGTGGAGGCACCAGCAGCGGCCCGTGGGTCCGGATCAGAGACCGTTCCT
AAAGCAGAGGCGGGGCCAGAATCTGCGGCAGGTGGGCAGGAGGAGGAAGAGGGAGAGGACGAGGAAGAGCTGAGTGGGACAAAGGTGAGCGCGCCCTACTACAGC
TCCTGGGGCACTCTGGAGTATCACAACGCCATGGTGGTGGGAACGGAAGAGGCGGAGGATGGCTCGGCGGGTGTCCGTGTGCTTTACCTGTACCCCACTCACAAG
TCTCTGAAGCCGTGCCCGTTCTTCCTGGAGGGAAAGTGCCGCTTTAAGGAGAACTGCAGGTTCTCCCATGGGCAGGTGGTCTCTCTGGATGAGCTGCGCCCCTTC
CAGGACCCAGACCTGAGCTCCCTGCAGGCCGGCTCTGCGTGTCTGGCCAAGCACCAGGATGGCCTCTGGCACGCAGCACGCATCACCGATGTGGACAACGGCTAC
TACACAGTCAAGTTTGACTCGCTGCTGCTGAGGGAGGCCGTGGTGGAGGGGGACGGCATCCTGCCCCCACTGCGCACAGAGGCCACAGAGTCCGACTCAGACAGC
GACGGTACGGGTGACTCCAGCTATGCCAGAGTGGTGGGGTCAGATGCTGTGGACTCTGGGACCTGCAGCTCTGCCTTTGCTGGCTGGGAGGTGCACACGCGAGGT
ATAGGCTCCAGACTCCTCACCAAGATGGGCTATGAGTTTGGCAAGGGTTTGGGCCGACACGCGGAAGGCCGGGTGGAGCCCATCCATGCTGTGGTGTTGCCTCGA
GGGAAGTCGCTGGACCAGTGTGTGGAGACCCTGCAGAAGCAGACCAGGGTTGGCAAGGCTGGCACCAACAAGCCCCCCAGGTGCCGGGGAAGAGGGGCCAGGCCT
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>ZGPAT|84619|protein
MDEESLESALQTYRAQLQQVELALGAGLDSSEQADLRQLQGDLKELIELTEASLVSVRKSSLLAALDEERPGRQEDAEYQAFREAITEAVEAPAAARGSGSETVP
KAEAGPESAAGGQEEEEGEDEEELSGTKVSAPYYSSWGTLEYHNAMVVGTEEAEDGSAGVRVLYLYPTHKSLKPCPFFLEGKCRFKENCRFSHGQVVSLDELRPF
QDPDLSSLQAGSACLAKHQDGLWHAARITDVDNGYYTVKFDSLLLREAVVEGDGILPPLRTEATESDSDSDGTGDSSYARVVGSDAVDSGTCSSAFAGWEVHTRG
IGSRLLTKMGYEFGKGLGRHAEGRVEPIHAVVLPRGKSLDQCVETLQKQTRVGKAGTNKPPRCRGRGARPGGRPAPRNVFDFLNEKLQGQAPGALEAGAAPAGRR
SKDMYHASKSAKRALSLRLFQTEEKIERTQRDIRSIQEALARNAGRHSVASAQLQEKLAGAQRQLGQLRAQEAGLQQEQRKADTHKKMTEF
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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 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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