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 Top