AutismKB 2.0

Evidence Details for PLCL1


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Basic Information Top
Gene Symbol:PLCL1 ( MGC126580,MGC138190,PLCE,PLCL,PLDL1,PRIP )
Gene Full Name: phospholipase C-like 1
Band: 2q33.1
Quick LinksEntrez ID:5334; OMIM: 600597; Uniprot ID:PLCL1_HUMAN; ENSEMBL ID: ENSG00000115896; HGNC ID: 9063
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLCL1|5334|nucleotide
ATGGCCGAGGGCGCGGCCGGCAGGGAGGATCCGGCGCCGCCCGACGCGGCGGGGGGCGAAGACGACCCCCGAGTGGGCCCGGATGCCGCCGGGGACTGCGTGACG
GCGGCCTCTGGGGGCCGGATGAGGGACCGTCGCAGCGGGGTCGCACTGCCAGGCGCCGCGGGGACCCCAGCGGACAGCGAGGCGGGCCTCCTGGAGGCAGCACGG
GCGACCCCCCGGCGCAGCAGCATCATCAAGGATCCTTCAAACCAAAAATGTGGTGGAAGAAAGAAAACCGTGTCTTTCAGCAGCATGCCATCGGAAAAGAAAATT
AGCAGTGCAAATGACTGCATCAGCTTCATGCAAGCTGGCTGTGAGTTGAAGAAAGTCCGGCCAAATTCTCGCATTTACAACCGTTTTTTCACTCTGGACACAGAC
CTTCAAGCTCTTCGCTGGGAACCTTCAAAGAAAGACCTCGAGAAAGCCAAGCTTGATATTTCTGCCATAAAAGAGATCAGACTGGGGAAAAACACGGAAACATTT
AGAAACAATGGCCTTGCTGACCAGATCTGTGAGGACTGTGCCTTTTCCATACTCCACGGGGAAAACTATGAGTCTCTGGACCTAGTTGCCAATTCAGCAGATGTG
GCAAACATCTGGGTGTCTGGGTTACGGTACCTGGTTTCTCGAAGTAAGCAGCCTCTTGATTTTATGGAGGGCAACCAGAACACACCACGGTTCATGTGGTTGAAA
ACAGTGTTTGAAGCAGCAGATGTTGATGGGAATGGGATTATGTTGGAAGACACCTCTGTAGAGTTAATAAAACAACTCAACCCTACTCTGAAGGAAGCCAAGATC
AGGTTAAAGTTTAAAGAAATCCAGAAGAGCAAGGAAAAACTAACCACCCGCGTGACCGAAGAGGAATTTTGTGAAGCTTTTTGTGAACTTTGCACCAGGCCAGAA
GTGTATTTCTTACTTGTACAGATATCTAAAAACAAAGAATATTTGGATGCCAATGATCTCATGCTCTTTTTAGAAGCTGAGCAAGGAGTCACCCATATCACCGAG
GATATATGCTTAGACATCATAAGGAGATACGAACTTTCTGAAGAGGGACGTCAAAAAGGGTTTCTTGCAATTGATGGCTTTACCCAGTATTTATTGTCATCAGAA
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>PLCL1|5334|protein
MAEGAAGREDPAPPDAAGGEDDPRVGPDAAGDCVTAASGGRMRDRRSGVALPGAAGTPADSEAGLLEAARATPRRSSIIKDPSNQKCGGRKKTVSFSSMPSEKKI
SSANDCISFMQAGCELKKVRPNSRIYNRFFTLDTDLQALRWEPSKKDLEKAKLDISAIKEIRLGKNTETFRNNGLADQICEDCAFSILHGENYESLDLVANSADV
ANIWVSGLRYLVSRSKQPLDFMEGNQNTPRFMWLKTVFEAADVDGNGIMLEDTSVELIKQLNPTLKEAKIRLKFKEIQKSKEKLTTRVTEEEFCEAFCELCTRPE
VYFLLVQISKNKEYLDANDLMLFLEAEQGVTHITEDICLDIIRRYELSEEGRQKGFLAIDGFTQYLLSSECDIFDPEQKKVAQDMTQPLSHYYINASHNTYLIED
QFRGPADINGYIRALKMGCRSVELDVSDGSDNEPILCNRNNMTTHVSFRSVIEVINKFAFVASEYPLILCLGNHCSLPQQKVMAQQMKKVFGNKLYTEAPLPSES
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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) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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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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