AutismKB 2.0

Evidence Details for CREB3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CREB3 ( LUMAN,LZIP,MGC15333,MGC19782 )
Gene Full Name: cAMP responsive element binding protein 3
Band: 9p13.3
Quick LinksEntrez ID:10488; OMIM: 606443; Uniprot ID:CREB3_HUMAN; ENSEMBL ID: ENSG00000107175; HGNC ID: 2347
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CREB3|10488|nucleotide
ATGGAGCTGGAATTGGATGCTGGTGACCAAGACCTGCTGGCCTTCCTGCTAGAGGAAAGTGGAGATTTGGGGACGGCACCCGATGAGGCCGTGAGGGCCCCACTG
GACTGGGCGCTGCCGCTTTCTGAGGTACCGAGCGACTGGGAAGTAGATGATTTGCTGTGCTCCCTGCTGAGTCCCCCAGCGTCGTTGAACATTCTCAGCTCCTCC
AACCCCTGCCTTGTCCACCATGACCACACCTACTCCCTCCCACGGGAAACTGTCTCTATGGATCTAGAGAGTGAGAGCTGTAGAAAAGAGGGGACCCAGATGACT
CCACAGCATATGGAGGAGCTGGCAGAGCAGGAGATTGCTAGGCTAGTACTGACAGATGAGGAGAAGAGTCTATTGGAGAAGGAGGGGCTTATTCTGCCTGAGACA
CTTCCTCTCACTAAGACAGAGGAACAAATTCTGAAACGTGTGCGGAGGAAGATTCGAAATAAAAGATCTGCTCAAGAGAGCCGCAGGAAAAAGAAGGTGTATGTT
GGGGGTTTAGAGAGCAGGGTCTTGAAATACACAGCCCAGAATATGGAGCTTCAGAACAAAGTACAGCTTCTGGAGGAACAGAATTTGTCCCTTCTAGATCAACTG
AGGAAACTCCAGGCCATGGTGATTGAGATATCAAACAAAACCAGCAGCAGCAGCACCTGCATCTTGGTCCTACTAGTCTCCTTCTGCCTCCTCCTTGTACCTGCT
ATGTACTCCTCTGACACAAGGGGGAGCCTGCCAGCTGAGCATGGAGTGTTGTCCCGCCAGCTTCGTGCCCTCCCCAGTGAGGACCCTTACCAGCTGGAGCTGCCT
GCCCTGCAGTCAGAAGTGCCGAAAGACAGCACACACCAGTGGTTGGACGGCTCAGACTGTGTACTCCAGGCCCCTGGCAACACTTCCTGCCTGCTGCATTACATG
CCTCAGGCTCCCAGTGCAGAGCCTCCCCTGGAGTGGCCATTCCCTGACCTCTTCTCAGAGCCTCTCTGCCGAGGTCCCATCCTCCCCCTGCAGGCAAATCTCACA
AGGAAGGGAGGATGGCTTCCTACTGGTAGCCCCTCTGTCATTTTGCAGGACAGATACTCAGGCTAG
Show »

>CREB3|10488|protein
MELELDAGDQDLLAFLLEESGDLGTAPDEAVRAPLDWALPLSEVPSDWEVDDLLCSLLSPPASLNILSSSNPCLVHHDHTYSLPRETVSMDLESESCRKEGTQMT
PQHMEELAEQEIARLVLTDEEKSLLEKEGLILPETLPLTKTEEQILKRVRRKIRNKRSAQESRRKKKVYVGGLESRVLKYTAQNMELQNKVQLLEEQNLSLLDQL
RKLQAMVIEISNKTSSSSTCILVLLVSFCLLLVPAMYSSDTRGSLPAEHGVLSRQLRALPSEDPYQLELPALQSEVPKDSTHQWLDGSDCVLQAPGNTSCLLHYM
PQAPSAEPPLEWPFPDLFSEPLCRGPILPLQANLTRKGGWLPTGSPSVILQDRYSG

Show »

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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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