Evidence Details for CREB3
Basic Information Top
| Gene Symbol: | CREB3 ( LUMAN,LZIP,MGC15333,MGC19782 ) |
|---|---|
| Gene Full Name: | cAMP responsive element binding protein 3 |
| Band: | 9p13.3 |
| Quick Links | Entrez 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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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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MELELDAGDQDLLAFLLEESGDLGTAPDEAVRAPLDWALPLSEVPSDWEVDDLLCSLLSPPASLNILSSSNPCLVHHDHTYSLPRETVSMDLESESCRKEGTQMT
PQHMEELAEQEIARLVLTDEEKSLLEKEGLILPETLPLTKTEEQILKRVRRKIRNKRSAQESRRKKKVYVGGLESRVLKYTAQNMELQNKVQLLEEQNLSLLDQL
RKLQAMVIEISNKTSSSSTCILVLLVSFCLLLVPAMYSSDTRGSLPAEHGVLSRQLRALPSEDPYQLELPALQSEVPKDSTHQWLDGSDCVLQAPGNTSCLLHYM
PQAPSAEPPLEWPFPDLFSEPLCRGPILPLQANLTRKGGWLPTGSPSVILQDRYSG
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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) | 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 microarray | ![]() | ![]() | autism | - | - | - | - | 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
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