AutismKB 2.0

Evidence Details for CREB3


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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
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>CREB3|10488|protein
MELELDAGDQDLLAFLLEESGDLGTAPDEAVRAPLDWALPLSEVPSDWEVDDLLCSLLSPPASLNILSSSNPCLVHHDHTYSLPRETVSMDLESESCRKEGTQMT
PQHMEELAEQEIARLVLTDEEKSLLEKEGLILPETLPLTKTEEQILKRVRRKIRNKRSAQESRRKKKVYVGGLESRVLKYTAQNMELQNKVQLLEEQNLSLLDQL
RKLQAMVIEISNKTSSSSTCILVLLVSFCLLLVPAMYSSDTRGSLPAEHGVLSRQLRALPSEDPYQLELPALQSEVPKDSTHQWLDGSDCVLQAPGNTSCLLHYM
PQAPSAEPPLEWPFPDLFSEPLCRGPILPLQANLTRKGGWLPTGSPSVILQDRYSG

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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) 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