AutismKB 2.0

Evidence Details for PAG1


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Basic Information Top
Gene Symbol:PAG1 ( CBP,FLJ37858,MGC138364,PAG )
Gene Full Name: phosphoprotein associated with glycosphingolipid microdomains 1
Band: 8q21.13
Quick LinksEntrez ID:55824; OMIM: 605767; Uniprot ID:PAG1_HUMAN; ENSEMBL ID: ENSG00000076641; HGNC ID: 30043
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAG1|55824|nucleotide
ATGGGGCCCGCGGGGAGCCTGCTGGGCAGCGGACAGATGCAGATCACCCTGTGGGGAAGTCTGGCTGCTGTCGCCATTTTCTTCGTCATCACCTTCCTCATCTTC
CTGTGCTCTAGTTGTGACAGGGAAAAGAAGCCGCGACAGCATAGTGGGGACCATGAGAACCTGATGAACGTGCCTTCAGACAAGGAGATGTTCAGCCGTTCAGTT
ACTAGCCTGGCAACAGATGCTCCTGCCAGCAGTGAGCAGAATGGGGCACTCACCAATGGGGACATTCTTTCAGAGGACAGTACTCTGACCTGCATGCAGCATTAC
GAGGAAGTCCAGACATCGGCCTCGGATCTGCTGGATTCCCAGGACAGCACAGGGAAACCAAAATGTCATCAGAGTCGGGAGCTGCCCAGAATCCCTCCCGAGAGC
GCAGTGGATACCATGCTCACGGCGAGAAGTGTGGACGGGGACCAGGGGCTGGGGATGGAAGGGCCCTATGAAGTGCTCAAGGACAGCTCCTCCCAAGAAAACATG
GTGGAGGACTGCTTGTATGAAACTGTGAAAGAGATCAAGGAGGTGGCTGCAGCTGCACACCTGGAGAAAGGCCACAGTGGCAAGGCAAAATCTACTTCTGCCTCG
AAAGAGCTCCCAGGGCCCCAGACTGAAGGCAAAGCTGAGTTTGCTGAATATGCCTCGGTGGACAGAAACAAAAAATGTCGTCAAAGTGTTAATGTAGAGAGTATC
CTTGGAAATTCATGTGATCCAGAAGAGGAGGCCCCACCACCTGTCCCTGTTAAGCTTCTGGACGAGAATGAAAACCTTCAGGAGAAGGAAGGGGGAGAGGCGGAA
GAGAGTGCCACAGACACGACCAGTGAAACTAACAAGAGATTTAGCTCATTGTCATACAAGTCTCGGGAAGAAGACCCCACTCTCACAGAAGAAGAGATCTCAGCT
ATGTACTCATCAGTAAATAAACCTGGACAGTTAGTGAATAAATCGGGGCAGTCGCTTACAGTTCCGGAGTCCACCTACACCTCCATTCAAGGGGACCCACAGAGG
TCACCCTCCTCCTGTAATGATCTCTATGCTACTGTTAAAGACTTCGAAAAAACTCCAAACAGCACACTTCCACCAGCAGGGAGGCCCAGCGAGGAGCCAGAGCCT
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>PAG1|55824|protein
MGPAGSLLGSGQMQITLWGSLAAVAIFFVITFLIFLCSSCDREKKPRQHSGDHENLMNVPSDKEMFSRSVTSLATDAPASSEQNGALTNGDILSEDSTLTCMQHY
EEVQTSASDLLDSQDSTGKPKCHQSRELPRIPPESAVDTMLTARSVDGDQGLGMEGPYEVLKDSSSQENMVEDCLYETVKEIKEVAAAAHLEKGHSGKAKSTSAS
KELPGPQTEGKAEFAEYASVDRNKKCRQSVNVESILGNSCDPEEEAPPPVPVKLLDENENLQEKEGGEAEESATDTTSETNKRFSSLSYKSREEDPTLTEEEISA
MYSSVNKPGQLVNKSGQSLTVPESTYTSIQGDPQRSPSSCNDLYATVKDFEKTPNSTLPPAGRPSEEPEPDYEAIQTLNREEEKATLGTNGHHGLVPKENDYESI
SDLQQGRDITRL
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2006_1 Unknown lymphoblastoid cell lines 3
(-)
monozygotic twins with different severityautism 3
(-)
0.74 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: H09567
  • GEO_ID: GSE4187
  • Statistic Method: SAM and corrected by FDR (with MeV)
Hu, 2006_1 Unknown lymphoblastoid cell lines 3
(-)
monozygotic twins with different severityautism 3
(-)
0.69 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: N50114
  • GEO_ID: GSE4187
  • Statistic Method: SAM and corrected by FDR (with MeV)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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