Evidence Details for CBX7
Basic Information Top
| Gene Symbol: | CBX7 ( - ) |
|---|---|
| Gene Full Name: | chromobox homolog 7 |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:23492; OMIM: 608457; Uniprot ID:CBX7_HUMAN; ENSEMBL ID: ENSG00000100307; HGNC ID: 1557 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CBX7|23492|nucleotide
ATGGAGCTGTCAGCCATCGGCGAGCAGGTGTTCGCCGTGGAGAGCATCCGGAAGAAGCGCGTGCGGAAGGGTAAAGTCGAGTATCTGGTGAAGTGGAAAGGATGG
CCCCCAAAGTACAGCACGTGGGAGCCAGAAGAGCACATCTTGGACCCCCGCCTCGTCATGGCCTACGAGGAGAAGGAGGAGAGAGACCGAGCATCGGGGTATAGG
AAGAGAGGTCCGAAACCCAAGCGGCTTCTGCTGCAGCGGCTGTACAGCATGGACCTGCGGAGCTCCCACAAGGCCAAGGGCAAGGAGAAGCTCTGCTTCTCCCTG
ACGTGCCCACTCGGCAGCGGGAGCCCTGAGGGGGTGGTCAAGGCGGGGGCACCTGAGCTGGTGGACAAGGGCCCCTTGGTGCCCACCCTGCCCTTCCCGCTCCGC
AAGCCCCGAAAGGCCCACAAGTACCTGCGGCTCTCGCGCAAGAAGTTCCCGCCCCGCGGGCCCAACCTGGAGAGCCACAGCCATCGACGGGAGCTCTTCCTGCAG
GAGCCACCGGCCCCAGACGTCCTGCAGGCGGCTGGCGAGTGGGAGCCTGCTGCGCAGCCCCCTGAAGAGGAGGCAGATGCCGACCTGGCCGAGGGGCCCCCTCCC
TGGACACCTGCGCTCCCCTCAAGTGAGGTGACCGTGACCGACATCACCGCCAACTCCATCACCGTCACCTTCCGCGAGGCCCAGGCAGCTGAGGGCTTCTTCCGA
GACCGCAGTGGGAAGTTCTGA
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ATGGAGCTGTCAGCCATCGGCGAGCAGGTGTTCGCCGTGGAGAGCATCCGGAAGAAGCGCGTGCGGAAGGGTAAAGTCGAGTATCTGGTGAAGTGGAAAGGATGG
CCCCCAAAGTACAGCACGTGGGAGCCAGAAGAGCACATCTTGGACCCCCGCCTCGTCATGGCCTACGAGGAGAAGGAGGAGAGAGACCGAGCATCGGGGTATAGG
AAGAGAGGTCCGAAACCCAAGCGGCTTCTGCTGCAGCGGCTGTACAGCATGGACCTGCGGAGCTCCCACAAGGCCAAGGGCAAGGAGAAGCTCTGCTTCTCCCTG
ACGTGCCCACTCGGCAGCGGGAGCCCTGAGGGGGTGGTCAAGGCGGGGGCACCTGAGCTGGTGGACAAGGGCCCCTTGGTGCCCACCCTGCCCTTCCCGCTCCGC
AAGCCCCGAAAGGCCCACAAGTACCTGCGGCTCTCGCGCAAGAAGTTCCCGCCCCGCGGGCCCAACCTGGAGAGCCACAGCCATCGACGGGAGCTCTTCCTGCAG
GAGCCACCGGCCCCAGACGTCCTGCAGGCGGCTGGCGAGTGGGAGCCTGCTGCGCAGCCCCCTGAAGAGGAGGCAGATGCCGACCTGGCCGAGGGGCCCCCTCCC
TGGACACCTGCGCTCCCCTCAAGTGAGGTGACCGTGACCGACATCACCGCCAACTCCATCACCGTCACCTTCCGCGAGGCCCAGGCAGCTGAGGGCTTCTTCCGA
GACCGCAGTGGGAAGTTCTGA
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>CBX7|23492|protein
MELSAIGEQVFAVESIRKKRVRKGKVEYLVKWKGWPPKYSTWEPEEHILDPRLVMAYEEKEERDRASGYRKRGPKPKRLLLQRLYSMDLRSSHKAKGKEKLCFSL
TCPLGSGSPEGVVKAGAPELVDKGPLVPTLPFPLRKPRKAHKYLRLSRKKFPPRGPNLESHSHRRELFLQEPPAPDVLQAAGEWEPAAQPPEEEADADLAEGPPP
WTPALPSSEVTVTDITANSITVTFREAQAAEGFFRDRSGKF
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MELSAIGEQVFAVESIRKKRVRKGKVEYLVKWKGWPPKYSTWEPEEHILDPRLVMAYEEKEERDRASGYRKRGPKPKRLLLQRLYSMDLRSSHKAKGKEKLCFSL
TCPLGSGSPEGVVKAGAPELVDKGPLVPTLPFPLRKPRKAHKYLRLSRKKFPPRGPNLESHSHRRELFLQEPPAPDVLQAAGEWEPAAQPPEEEADADLAEGPPP
WTPALPSSEVTVTDITANSITVTFREAQAAEGFFRDRSGKF
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow 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.