AutismKB 2.0

Evidence Details for BAG4


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Basic Information Top
Gene Symbol:BAG4 ( BAG-4,SODD )
Gene Full Name: BCL2-associated athanogene 4
Band: 8p11.23
Quick LinksEntrez ID:9530; OMIM: 603884; Uniprot ID:BAG4_HUMAN; ENSEMBL ID: ENSG00000156735; HGNC ID: 940
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BAG4|9530|nucleotide
ATGTCGGCCCTGAGGCGCTCGGGCTACGGCCCCAGTGACGGTCCGTCCTACGGCCGCTACTACGGGCCTGGGGGTGGAGATGTGCCGGTACACCCACCTCCACCC
TTATATCCTCTTCGCCCTGAACCTCCCCAGCCTCCCATTTCCTGGCGGGTGCGCGGGGGCGGCCCGGCGGAGACCACCTGGCTGGGAGAAGGCGGAGGAGGCGAT
GGCTACTATCCCTCGGGAGGCGCCTGGCCAGAGCCTGGTCGAGCCGGAGGAAGCCACCAGGAGCAGCCACCATATCCTAGCTACAATTCTAACTATTGGAATTCT
ACTGCGAGATCTAGGGCTCCTTACCCAAGTACATATCCTGTAAGACCAGAATTGCAAGGCCAGAGTTTGAATTCTTATACAAATGGAGCGTATGGTCCAACATAC
CCCCCAGGCCCTGGGGCAAATACTGCCTCATACTCAGGGGCTTATTATGCACCTGGTTATACTCAGACCAGTTACTCCACAGAAGTTCCAAGTACTTACCGTTCA
TCTGGCAACAGCCCAACTCCAGTCTCTCGTTGGATCTATCCCCAGCAGGACTGTCAGACTGAAGCACCCCCTCTTAGGGGGCAGGTTCCAGGATATCCGCCTTCA
CAGAACCCTGGAATGACCCTGCCCCATTATCCTTATGGAGATGGTAATCGTAGTGTTCCACAATCAGGACCGACTGTACGACCACAAGAAGATGCGTGGGCTTCT
CCTGGTGCTTATGGAATGGGTGGCCGTTATCCCTGGCCTTCATCAGCGCCCTCAGCACCACCCGGCAATCTCTACATGACTGAAAGTACTTCACCATGGCCTAGC
AGTGGCTCTCCCCAGTCACCCCCTTCACCCCCAGTCCAGCAGCCCAAGGATTCTTCATACCCCTATAGCCAATCAGATCAAAGCATGAACCGGCACAACTTTCCT
TGCAGTGTCCATCAGTACGAATCCTCGGGGACAGTGAACAATGATGATTCAGATCTTTTGGATTCCCAAGTCCAGTATAGTGCTGAGCCTCAGCTGTATGGTAAT
GCCACCAGTGACCATCCCAACAATCAAGATCAAAGTAGCAGTCTTCCTGAAGAATGTGTACCTTCAGATGAAAGTACTCCTCCGAGTATTAAAAAAATCATACAT
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>BAG4|9530|protein
MSALRRSGYGPSDGPSYGRYYGPGGGDVPVHPPPPLYPLRPEPPQPPISWRVRGGGPAETTWLGEGGGGDGYYPSGGAWPEPGRAGGSHQEQPPYPSYNSNYWNS
TARSRAPYPSTYPVRPELQGQSLNSYTNGAYGPTYPPGPGANTASYSGAYYAPGYTQTSYSTEVPSTYRSSGNSPTPVSRWIYPQQDCQTEAPPLRGQVPGYPPS
QNPGMTLPHYPYGDGNRSVPQSGPTVRPQEDAWASPGAYGMGGRYPWPSSAPSAPPGNLYMTESTSPWPSSGSPQSPPSPPVQQPKDSSYPYSQSDQSMNRHNFP
CSVHQYESSGTVNNDDSDLLDSQVQYSAEPQLYGNATSDHPNNQDQSSSLPEECVPSDESTPPSIKKIIHVLEKVQYLEQEVEEFVGKKTDKAYWLLEEMLTKEL
LELDSVETGGQDSVRQARKEAVCKIQAILEKLEKKGL
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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 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Anney RJL, 2017_3 replication 1369
(-)
ASD -
-
- 137308
(-)
-
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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