Evidence Details for CREB3L1
Basic Information Top
| Gene Symbol: | CREB3L1 ( OASIS ) |
|---|---|
| Gene Full Name: | cAMP responsive element binding protein 3-like 1 |
| Band: | 11p11.2 |
| Quick Links | Entrez ID:90993; OMIM: NA; Uniprot ID:CR3L1_HUMAN; ENSEMBL ID: ENSG00000157613; HGNC ID: 18856 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CREB3L1|90993|nucleotide
ATGGACGCCGTCTTGGAACCCTTCCCGGCCGACAGGCTGTTCCCCGGATCCAGCTTCCTGGACTTGGGGGATCTGAACGAGTCGGACTTCCTCAACAATGCGCAC
TTTCCTGAGCACCTGGACCACTTTACGGAGAACATGGAGGACTTCTCCAATGACCTGTTCAGCAGCTTCTTTGATGACCCTGTGCTGGATGAGAAGAGCCCTCTA
TTGGACATGGAACTGGACTCCCCTACGCCAGGCATCCAGGCGGAGCACAGCTACTCCCTGAGCGGCGACTCAGCGCCCCAGAGCCCCCTTGTGCCCATCAAGATG
GAGGACACCACCCAAGATGCAGAGCATGGAGCATGGGCGCTGGGACACAAACTGTGCTCCATCATGGTGAAGCAGGAGCAGAGCCCGGAGCTGCCCGTGGACCCT
CTGGCTGCCCCCTCGGCCATGGCTGCCGCGGCCGCCATGGCCACCACCCCGCTGCTGGGCCTCAGCCCCTTGTCCAGGCTGCCCATCCCCCACCAGGCCCCGGGA
GAGATGACTCAGCTGCCAGTGATCAAAGCAGAGCCTCTGGAGGTGAACCAGTTCCTCAAAGTGACACCGGAGGACCTGGTGCAGATGCCTCCGACGCCCCCCAGC
AGCCATGGCAGTGACAGCGACGGCTCCCAGAGTCCCCGCTCTCTGCCCCCCTCCAGCCCTGTCAGGCCCATGGCGCGCTCCTCCACGGCCATCTCCACCTCCCCA
CTCCTCACTGCCCCTCACAAATTACAGGGGACATCAGGGCCACTGCTCCTGACAGAGGAGGAGAAGCGGACCCTGATTGCTGAGGGCTACCCCATCCCCACAAAA
CTCCCCCTCACCAAAGCCGAGGAGAAGGCCTTGAAGAGAGTCCGGAGGAAAATCAAGAACAAGATCTCAGCCCAGGAGAGCCGTCGTAAGAAGAAGGAGTATGTG
GAGTGTCTAGAAAAGAAGGTGGAGACATTTACATCTGAGAACAATGAACTGTGGAAGAAGGTGGAGACCCTGGAGAATGCCAACAGGACCCTGCTCCAGCAGCTG
CAGAAACTCCAGACTCTGGTCACCAACAAGATCTCCAGACCTTACAAGATGGCCGCCACCCAGACTGGGACCTGCCTCATGGTGGCAGCCTTGTGCTTTGTTCTG
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ATGGACGCCGTCTTGGAACCCTTCCCGGCCGACAGGCTGTTCCCCGGATCCAGCTTCCTGGACTTGGGGGATCTGAACGAGTCGGACTTCCTCAACAATGCGCAC
TTTCCTGAGCACCTGGACCACTTTACGGAGAACATGGAGGACTTCTCCAATGACCTGTTCAGCAGCTTCTTTGATGACCCTGTGCTGGATGAGAAGAGCCCTCTA
TTGGACATGGAACTGGACTCCCCTACGCCAGGCATCCAGGCGGAGCACAGCTACTCCCTGAGCGGCGACTCAGCGCCCCAGAGCCCCCTTGTGCCCATCAAGATG
GAGGACACCACCCAAGATGCAGAGCATGGAGCATGGGCGCTGGGACACAAACTGTGCTCCATCATGGTGAAGCAGGAGCAGAGCCCGGAGCTGCCCGTGGACCCT
CTGGCTGCCCCCTCGGCCATGGCTGCCGCGGCCGCCATGGCCACCACCCCGCTGCTGGGCCTCAGCCCCTTGTCCAGGCTGCCCATCCCCCACCAGGCCCCGGGA
GAGATGACTCAGCTGCCAGTGATCAAAGCAGAGCCTCTGGAGGTGAACCAGTTCCTCAAAGTGACACCGGAGGACCTGGTGCAGATGCCTCCGACGCCCCCCAGC
AGCCATGGCAGTGACAGCGACGGCTCCCAGAGTCCCCGCTCTCTGCCCCCCTCCAGCCCTGTCAGGCCCATGGCGCGCTCCTCCACGGCCATCTCCACCTCCCCA
CTCCTCACTGCCCCTCACAAATTACAGGGGACATCAGGGCCACTGCTCCTGACAGAGGAGGAGAAGCGGACCCTGATTGCTGAGGGCTACCCCATCCCCACAAAA
CTCCCCCTCACCAAAGCCGAGGAGAAGGCCTTGAAGAGAGTCCGGAGGAAAATCAAGAACAAGATCTCAGCCCAGGAGAGCCGTCGTAAGAAGAAGGAGTATGTG
GAGTGTCTAGAAAAGAAGGTGGAGACATTTACATCTGAGAACAATGAACTGTGGAAGAAGGTGGAGACCCTGGAGAATGCCAACAGGACCCTGCTCCAGCAGCTG
CAGAAACTCCAGACTCTGGTCACCAACAAGATCTCCAGACCTTACAAGATGGCCGCCACCCAGACTGGGACCTGCCTCATGGTGGCAGCCTTGTGCTTTGTTCTG
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>CREB3L1|90993|protein
MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTPGIQAEHSYSLSGDSAPQSPLVPIKM
EDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLGLSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPS
SHGSDSDGSQSPRSLPPSSPVRPMARSSTAISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYV
ECLEKKVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNKISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSGSQTVKEDPLAADGVYTASQM
PSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTKYLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS
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MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFDDPVLDEKSPLLDMELDSPTPGIQAEHSYSLSGDSAPQSPLVPIKM
EDTTQDAEHGAWALGHKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLGLSPLSRLPIPHQAPGEMTQLPVIKAEPLEVNQFLKVTPEDLVQMPPTPPS
SHGSDSDGSQSPRSLPPSSPVRPMARSSTAISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKNKISAQESRRKKKEYV
ECLEKKVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNKISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSGSQTVKEDPLAADGVYTASQM
PSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTKYLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS
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Evidence summary TopClick 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 (1) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen | | | PDD | 345 | - | 345 | - | - | - | - |
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.