Evidence Details for CLYBL
Basic Information Top
| Gene Symbol: | CLYBL ( CLB,bA134O15.1 ) |
|---|---|
| Gene Full Name: | citrate lyase beta like |
| Band: | 13q32.3 |
| Quick Links | Entrez ID:171425; OMIM: 609686; Uniprot ID:CLYBL_HUMAN; ENSEMBL ID: ENSG00000125246; HGNC ID: 18355 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CLYBL|171425|nucleotide
ATGGCGCTACGTCTGCTGCGGAGGGCGGCGCGCGGAGCTGCGGCGGCGGCGCTGCTGAGGCTGAAAGCGTCTCTAGCAGCTGATATCCCCAGACTTGGATATAGT
TCCTCATCCCATCACAAGTACATCCCCCGGAGGGCAGTGCTTTATGTACCTGGAAATGATGAAAAGAAAATAAAGAAGATTCCATCCCTGAATGTAGATTGTGCA
GTGCTCGACTGTGAGGATGGAGTGGCTGCAAACAAAAAGAATGAAGCTCGACTGAGAATTGTAAAAACTCTTGAAGACATTGATCTGGGCCCTACTGAAAAATGT
GTGAGAGTCAACTCAGTTTCCAGTGGTCTGGCGGAAGAAGACCTAGAGACCCTTTTGCAATCCCGGGTCCTTCCTTCCAGCCTGATGCTACCAAAGGTGGAAAGT
CCTGAAGAAATCCAGTGGTTTGCAGACAAATTTTCATTCCACTTAAAAGGCCGAAAACTTGAACAACCAATGAATTTAATCCCTTTTGTGGAAACTGCAATGGGT
TTGCTCAATTTTAAGGCAGTGTGTGAAGAAACCCTGAAGGTCGGGCCTCAAGTAGGTCTCTTTCTAGATGCAGTCGTTTTTGGAGGAGAAGACTTTCGAGCCAGC
ATAGGTGCAACAAGTAGTAAAGAAACCCTGGATATTCTCTACGCCCGGCAAAAGATTGTTGTCATAGCGAAAGCCTTTGGTCTCCAAGCCATAGATCTGGTGTAC
ATTGACTTTCGAGATGGAGCTGGGCTGCTTAGACAGTCACGAGAAGGAGCCGCCATGGGCTTCACTGGTAAGCAGGTGATTCACCCTAACCAAATTGCCGTGGTC
CAGGAGCAGTTTTCTCCTTCCCCTGAAAAAATTAAGTGGGCTGAAGAACTGATTGCTGCCTTTAAAGAACATCAACAATTAGGAAAGGGGGCCTTTACTTTCCAA
GGGAGTATGATCGACATGCCATTACTGAAGCAGGCCCAGAACACTGTTACGCTTGCCACCTCCATCAAGGAAAAATGA
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ATGGCGCTACGTCTGCTGCGGAGGGCGGCGCGCGGAGCTGCGGCGGCGGCGCTGCTGAGGCTGAAAGCGTCTCTAGCAGCTGATATCCCCAGACTTGGATATAGT
TCCTCATCCCATCACAAGTACATCCCCCGGAGGGCAGTGCTTTATGTACCTGGAAATGATGAAAAGAAAATAAAGAAGATTCCATCCCTGAATGTAGATTGTGCA
GTGCTCGACTGTGAGGATGGAGTGGCTGCAAACAAAAAGAATGAAGCTCGACTGAGAATTGTAAAAACTCTTGAAGACATTGATCTGGGCCCTACTGAAAAATGT
GTGAGAGTCAACTCAGTTTCCAGTGGTCTGGCGGAAGAAGACCTAGAGACCCTTTTGCAATCCCGGGTCCTTCCTTCCAGCCTGATGCTACCAAAGGTGGAAAGT
CCTGAAGAAATCCAGTGGTTTGCAGACAAATTTTCATTCCACTTAAAAGGCCGAAAACTTGAACAACCAATGAATTTAATCCCTTTTGTGGAAACTGCAATGGGT
TTGCTCAATTTTAAGGCAGTGTGTGAAGAAACCCTGAAGGTCGGGCCTCAAGTAGGTCTCTTTCTAGATGCAGTCGTTTTTGGAGGAGAAGACTTTCGAGCCAGC
ATAGGTGCAACAAGTAGTAAAGAAACCCTGGATATTCTCTACGCCCGGCAAAAGATTGTTGTCATAGCGAAAGCCTTTGGTCTCCAAGCCATAGATCTGGTGTAC
ATTGACTTTCGAGATGGAGCTGGGCTGCTTAGACAGTCACGAGAAGGAGCCGCCATGGGCTTCACTGGTAAGCAGGTGATTCACCCTAACCAAATTGCCGTGGTC
CAGGAGCAGTTTTCTCCTTCCCCTGAAAAAATTAAGTGGGCTGAAGAACTGATTGCTGCCTTTAAAGAACATCAACAATTAGGAAAGGGGGCCTTTACTTTCCAA
GGGAGTATGATCGACATGCCATTACTGAAGCAGGCCCAGAACACTGTTACGCTTGCCACCTCCATCAAGGAAAAATGA
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>CLYBL|171425|protein
MALRLLRRAARGAAAAALLRLKASLAADIPRLGYSSSSHHKYIPRRAVLYVPGNDEKKIKKIPSLNVDCAVLDCEDGVAANKKNEARLRIVKTLEDIDLGPTEKC
VRVNSVSSGLAEEDLETLLQSRVLPSSLMLPKVESPEEIQWFADKFSFHLKGRKLEQPMNLIPFVETAMGLLNFKAVCEETLKVGPQVGLFLDAVVFGGEDFRAS
IGATSSKETLDILYARQKIVVIAKAFGLQAIDLVYIDFRDGAGLLRQSREGAAMGFTGKQVIHPNQIAVVQEQFSPSPEKIKWAEELIAAFKEHQQLGKGAFTFQ
GSMIDMPLLKQAQNTVTLATSIKEK
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MALRLLRRAARGAAAAALLRLKASLAADIPRLGYSSSSHHKYIPRRAVLYVPGNDEKKIKKIPSLNVDCAVLDCEDGVAANKKNEARLRIVKTLEDIDLGPTEKC
VRVNSVSSGLAEEDLETLLQSRVLPSSLMLPKVESPEEIQWFADKFSFHLKGRKLEQPMNLIPFVETAMGLLNFKAVCEETLKVGPQVGLFLDAVVFGGEDFRAS
IGATSSKETLDILYARQKIVVIAKAFGLQAIDLVYIDFRDGAGLLRQSREGAAMGFTGKQVIHPNQIAVVQEQFSPSPEKIKWAEELIAAFKEHQQLGKGAFTFQ
GSMIDMPLLKQAQNTVTLATSIKEK
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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) | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 3 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Risch, 1999 | USA | microsatellite-based genomic screen | ![]() | ![]() | PDD | 90 | - | 90 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
1.06947 | Up | 38.8588 | |
| ||||||||||||
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | ![]() | ![]() | - | autism | 16 (6.25%) |
1.01631 | Up | 62.4402 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
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 | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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