AutismKB 2.0

Evidence Details for PIK3C2G


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Basic Information Top
Gene Symbol:PIK3C2G ( MGC163149,PI3K-C2GAMMA )
Gene Full Name: phosphoinositide-3-kinase, class 2, gamma polypeptide
Band: 12p12.3
Quick LinksEntrez ID:5288; OMIM: 609001; Uniprot ID:P3C2G_HUMAN; ENSEMBL ID: ENSG00000139144; HGNC ID: 8973
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIK3C2G|5288|nucleotide
ATGGCATATTCTTGGCAAACGGATCCAAATCCTAATGAATCACACGAAAAGCAGTATGAACACCAAGAATTTCTCTTTGTAAATCAACCCCATTCTTCTAGCCAA
GTCAGTCTGGGTTTTGATCAGATAGTAGATGAGATCAGTGGCAAAATTCCACACTACGAGAGTGAAATTGATGAAAACACCTTTTTTGTGCCCACTGCACCAAAA
TGGGACTCAACAGGGCATTCATTAAATGAAGCACACCAAATATCCTTGAATGAATTCACTTCTAAAAGCCGTGAACTCTCCTGGCATCAAGTTAGCAAAGCACCA
GCAATTGGTTTTAGTCCTTCTGTGTTACCAAAACCTCAAAATACGAATAAAGAATGCTCCTGGGGAAGCCCCATAGGAAAACATCATGGTGCTGATGATTCCAGA
TTCAGTATTTTAGCTCCATCATTCACAAGTTTGGATAAAATTAATCTAGAGAAAGAATTAGAAAATGAAAATCATAACTACCATATAGGATTTGAAAGTAGCATT
CCTCCAACAAATTCATCCTTCTCAAGTGACTTCATGCCGAAAGAAGAGAATAAAAGGAGTGGACATGTGAACATTGTGGAACCATCTTTGATGCTTTTGAAAGGC
TCTCTTCAACCCGGAATGTGGGAAAGTACATGGCAGAAGAATATAGAGTCAATAGGTTGTTCCATTCAGCTAGTGGAAGTACCTCAAAGCAGCAATACGAGTCTG
GCCTCTTTTTGCAACAAAGTAAAAAAAATCAGAGAAAGATATCATGCAGCTGATGTTAATTTCAATTCTGGGAAGATCTGGAGCACTACTACAGCATTTCCGTAT
CAGCTCTTTTCTAAGACCAAGTTTAATATACATATTTTTATTGATAACTCAACACAACCTCTTCATTTTATGCCATGTGCTAATTATCTTGTCAAAGATCTAATT
GCAGAAATTCTGCATTTTTGCACAAATGACCAGCTACTCCCCAAAGATCATATTCTAAGTGTATGTGGCTCTGAAGAATTTTTACAAAACGACCACTGTTTGGGG
AGCCACAAAATGTTTCAAAAAGATAAATCTGTTATTCAGCTCCACCTGCAGAAAAGTAGGGAAGCTCCAGGAAAGCTATCTCGAAAGCATGAAGAGGACCACAGT
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>PIK3C2G|5288|protein
MAYSWQTDPNPNESHEKQYEHQEFLFVNQPHSSSQVSLGFDQIVDEISGKIPHYESEIDENTFFVPTAPKWDSTGHSLNEAHQISLNEFTSKSRELSWHQVSKAP
AIGFSPSVLPKPQNTNKECSWGSPIGKHHGADDSRFSILAPSFTSLDKINLEKELENENHNYHIGFESSIPPTNSSFSSDFMPKEENKRSGHVNIVEPSLMLLKG
SLQPGMWESTWQKNIESIGCSIQLVEVPQSSNTSLASFCNKVKKIRERYHAADVNFNSGKIWSTTTAFPYQLFSKTKFNIHIFIDNSTQPLHFMPCANYLVKDLI
AEILHFCTNDQLLPKDHILSVCGSEEFLQNDHCLGSHKMFQKDKSVIQLHLQKSREAPGKLSRKHEEDHSQFYLNQLLEFMHIWKVSRQCLLTLIRKYDFHLKYL
LKTQENVYNIIEEVKKICSVLGCVETKQITDAVNELSLILQRKGENFYQSSETSAKGLIEKVTTELSTSIYQLINVYCNSFYADFQPVNVPRCTSYLNPGLPSHL
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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