AutismKB 2.0

Evidence Details for POPDC2


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Basic Information Top
Gene Symbol:POPDC2 ( POP2 )
Gene Full Name: popeye domain containing 2
Band: 3q13.33
Quick LinksEntrez ID:64091; OMIM: 605823; Uniprot ID:POPD2_HUMAN; ENSEMBL ID: ENSG00000121577; HGNC ID: 17648
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POPDC2|64091|nucleotide
ATGAGCGCCAACAGCAGCAGAGTGGGCCAGCTTCTCTTGCAGGGTTCAGCGTGCATTAGGTGGAAGCAGGATGTGGAAGGGGCTGTCTACCACCTAGCCAACTGC
CTCTTACTCCTGGGCTTCATGGGGGGCAGTGGGGTGTATGGATGCTTCTATCTTTTTGGCTTCCTGAGTGCAGGTTACCTGTGCTGCGTGCTGTGGGGCTGGTTC
AGTGCCTGTGGCCTGGACATTGTTCTTTGGAGCTTCCTGCTGGCTGTGGTCTGCCTGCTCCAGCTGGCACACCTGGTATACCGCCTGCGTGAGGACACCCTCCCT
GAGGAGTTTGACCTCCTCTACAAGACGCTGTGCCTGCCCTTGCAGGTGCCCCTACAGACATACAAGGAGATTGTTCACTGCTGCGAGGAGCAGGTCTTAACTCTG
GCCACTGAACAGACCTATGCTGTGGAGGGTGAGACACCCATCAACCGCCTGTCCCTGCTGCTCTCTGGCCGGGTTCGTGTGAGCCAGGATGGGCAGTTTCTGCAC
TACATCTTTCCATACCAGTTCATGGACTCTCCTGAGTGGGAATCACTACAGCCTTCTGAGGAGGGGGTGTTCCAGGTCACTCTGACTGCTGAGACCTCATGTAGC
TACATTTCCTGGCCCCGGAAAAGTCTCCATCTTCTTCTGACCAAAGAGCGATACATCTCCTGCCTCTTCTCGGCTCTGCTGGGATATGACATCTCAGAGAAGCTC
TACACTCTCAATGACAAGCTCTTTGCTAAGTTTGGGCTGCGCTTTGACATCCGCCTTCCCAGCCTCTACCATGTCCTGGGTCCCACTGCTGCAGATGCTGGACCA
GAGTCCGAGAAGGGTGATGAGGAAGTCTGTGAGCCAGCTGTGTCCCCTCCTCAGGCCACACCCACCTCTCTCCAGCAAACACCCCCTTGTTCTACCCCTCCAGCT
ACCACCAACTTTCCTGCACCTCCTACCCGGGCCAGGTTGTCCAGGCCAGACAGTGGCATACTGGCTTCTAGAATTCCTCTCCAGAGCTACTCTCAAGTTATATCC
AGGGGACAGGCCCCTTTGGCTCCAACCCACACGCCTGAACTTTAA
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>POPDC2|64091|protein
MSANSSRVGQLLLQGSACIRWKQDVEGAVYHLANCLLLLGFMGGSGVYGCFYLFGFLSAGYLCCVLWGWFSACGLDIVLWSFLLAVVCLLQLAHLVYRLREDTLP
EEFDLLYKTLCLPLQVPLQTYKEIVHCCEEQVLTLATEQTYAVEGETPINRLSLLLSGRVRVSQDGQFLHYIFPYQFMDSPEWESLQPSEEGVFQVTLTAETSCS
YISWPRKSLHLLLTKERYISCLFSALLGYDISEKLYTLNDKLFAKFGLRFDIRLPSLYHVLGPTAADAGPESEKGDEEVCEPAVSPPQATPTSLQQTPPCSTPPA
TTNFPAPPTRARLSRPDSGILASRIPLQSYSQVISRGQAPLAPTHTPEL

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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 (0) 0 (0) 0 (1) 0 (1) 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
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
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