Evidence Details for CLTB
Basic Information Top
| Gene Symbol: | CLTB ( LCB ) |
|---|---|
| Gene Full Name: | clathrin, light chain B |
| Band: | 5q35.2 |
| Quick Links | Entrez ID:1212; OMIM: 118970; Uniprot ID:CLCB_HUMAN; ENSEMBL ID: ENSG00000175416; HGNC ID: 2091 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CLTB|1212|nucleotide
ATGGCTGATGACTTTGGCTTCTTCTCGTCGTCGGAGAGCGGTGCCCCGGAGGCGGCGGAGGAGGACCCGGCGGCCGCCTTCCTGGCCCAGCAGGAGAGCGAGATT
GCAGGCATAGAGAACGACGAGGGCTTCGGGGCACCTGCCGGCAGCCATGCGGCCCCCGCGCAGCCGGGCCCCACGAGTGGGGCTGGTTCTGAGGACATGGGGACC
ACAGTCAATGGAGATGTGTTTCAGGAGGCCAACGGTCCTGCTGATGGCTACGCAGCCATTGCCCAGGCTGACAGGCTGACCCAGGAGCCTGAGAGCATCCGCAAG
TGGCGAGAGGAGCAGAGGAAACGGCTGCAAGAGCTGGATGCTGCATCTAAGGTCACGGAACAGGAATGGCGGGAGAAGGCCAAGAAGGACCTGGAGGAGTGGAAC
CAGCGCCAGAGTGAACAAGTAGAGAAGAACAAGATCAACAACCGGGCATCCGAGGAGGCTTTCGTGAAGGAATCCAAGGAGGAGACCCCAGGCACAGAGTGGGAG
AAGGTGGCCCAGCTATGTGACTTCAACCCCAAGAGCAGCAAGCAGTGCAAAGATGTGTCCCGCCTGCGCTCGGTGCTCATGTCCCTGAAGCAGACGCCACTGTCC
CGCTAG
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ATGGCTGATGACTTTGGCTTCTTCTCGTCGTCGGAGAGCGGTGCCCCGGAGGCGGCGGAGGAGGACCCGGCGGCCGCCTTCCTGGCCCAGCAGGAGAGCGAGATT
GCAGGCATAGAGAACGACGAGGGCTTCGGGGCACCTGCCGGCAGCCATGCGGCCCCCGCGCAGCCGGGCCCCACGAGTGGGGCTGGTTCTGAGGACATGGGGACC
ACAGTCAATGGAGATGTGTTTCAGGAGGCCAACGGTCCTGCTGATGGCTACGCAGCCATTGCCCAGGCTGACAGGCTGACCCAGGAGCCTGAGAGCATCCGCAAG
TGGCGAGAGGAGCAGAGGAAACGGCTGCAAGAGCTGGATGCTGCATCTAAGGTCACGGAACAGGAATGGCGGGAGAAGGCCAAGAAGGACCTGGAGGAGTGGAAC
CAGCGCCAGAGTGAACAAGTAGAGAAGAACAAGATCAACAACCGGGCATCCGAGGAGGCTTTCGTGAAGGAATCCAAGGAGGAGACCCCAGGCACAGAGTGGGAG
AAGGTGGCCCAGCTATGTGACTTCAACCCCAAGAGCAGCAAGCAGTGCAAAGATGTGTCCCGCCTGCGCTCGGTGCTCATGTCCCTGAAGCAGACGCCACTGTCC
CGCTAG
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>CLTB|1212|protein
MADDFGFFSSSESGAPEAAEEDPAAAFLAQQESEIAGIENDEGFGAPAGSHAAPAQPGPTSGAGSEDMGTTVNGDVFQEANGPADGYAAIAQADRLTQEPESIRK
WREEQRKRLQELDAASKVTEQEWREKAKKDLEEWNQRQSEQVEKNKINNRASEEAFVKESKEETPGTEWEKVAQLCDFNPKSSKQCKDVSRLRSVLMSLKQTPLS
R
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MADDFGFFSSSESGAPEAAEEDPAAAFLAQQESEIAGIENDEGFGAPAGSHAAPAQPGPTSGAGSEDMGTTVNGDVFQEANGPADGYAAIAQADRLTQEPESIRK
WREEQRKRLQELDAASKVTEQEWREKAKKDLEEWNQRQSEQVEKNKINNRASEEAFVKESKEETPGTEWEKVAQLCDFNPKSSKQCKDVSRLRSVLMSLKQTPLS
R
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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 (0) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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%) |
0.954732 | Down | 22.7061 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.