Evidence Details for CLDN12
Basic Information Top
| Gene Symbol: | CLDN12 ( - ) |
|---|---|
| Gene Full Name: | claudin 12 |
| Band: | 7q21.13 |
| Quick Links | Entrez ID:9069; OMIM: 611232; Uniprot ID:CLD12_HUMAN; ENSEMBL ID: ENSG00000157224; HGNC ID: 2034 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CLDN12|9069|nucleotide
ATGGGCTGTCGGGATGTCCACGCAGCCACAGTCCTTTCCTTCCTGTGTGGAATCGCCTCAGTAGCAGGCCTCTTTGCAGGGACTCTGCTTCCCAACTGGAGAAAA
TTACGATTGATCACATTCAACAGAAACGAGAAGAACCTGACTGTTTACACAGGCCTGTGGGTGAAATGTGCCCGGTATGACGGGAGCAGTGACTGCCTGATGTAC
GACACTACTTGGTACTCATCAGTTGACCAGCTGGACCTGCGTGTCCTCCAGTTTGCCCTACCCCTCAGCATGCTGATCGCCATGGGTGCCCTGCTGCTCTGCCTG
ATTGGAATGTGCAACACTGCCTTCAGGTCCTCGGTGCCCAACATCAAACTGGCCAAGTGTCTGGTCAATAGTGCAGGTTGCCACCTGGTGGCTGGGCTGCTATTT
TTCCTGGCAGGTACTGTGAGCCTCTCCCCATCTATCTGGGTCATCTTTTATAACATCCATCTGAACAAGAAGTTTGAGCCAGTCTTTTCATTTGACTATGCAGTG
TATGTCACTATTGCTAGTGCTGGGGGCCTGTTTATGACTTCCCTTATACTATTTATTTGGTATTGTACATGCAAATCTTTGCCTTCTCCTTTCTGGCAACCATTG
TACTCCCATCCACCCAGTATGCATACTTACTCACAGCCCTATTCAGCACGCTCTCGCCTCTCTGCCATTGAAATTGACATTCCAGTAGTTTCACACACCACTTAA
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ATGGGCTGTCGGGATGTCCACGCAGCCACAGTCCTTTCCTTCCTGTGTGGAATCGCCTCAGTAGCAGGCCTCTTTGCAGGGACTCTGCTTCCCAACTGGAGAAAA
TTACGATTGATCACATTCAACAGAAACGAGAAGAACCTGACTGTTTACACAGGCCTGTGGGTGAAATGTGCCCGGTATGACGGGAGCAGTGACTGCCTGATGTAC
GACACTACTTGGTACTCATCAGTTGACCAGCTGGACCTGCGTGTCCTCCAGTTTGCCCTACCCCTCAGCATGCTGATCGCCATGGGTGCCCTGCTGCTCTGCCTG
ATTGGAATGTGCAACACTGCCTTCAGGTCCTCGGTGCCCAACATCAAACTGGCCAAGTGTCTGGTCAATAGTGCAGGTTGCCACCTGGTGGCTGGGCTGCTATTT
TTCCTGGCAGGTACTGTGAGCCTCTCCCCATCTATCTGGGTCATCTTTTATAACATCCATCTGAACAAGAAGTTTGAGCCAGTCTTTTCATTTGACTATGCAGTG
TATGTCACTATTGCTAGTGCTGGGGGCCTGTTTATGACTTCCCTTATACTATTTATTTGGTATTGTACATGCAAATCTTTGCCTTCTCCTTTCTGGCAACCATTG
TACTCCCATCCACCCAGTATGCATACTTACTCACAGCCCTATTCAGCACGCTCTCGCCTCTCTGCCATTGAAATTGACATTCCAGTAGTTTCACACACCACTTAA
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>CLDN12|9069|protein
MGCRDVHAATVLSFLCGIASVAGLFAGTLLPNWRKLRLITFNRNEKNLTVYTGLWVKCARYDGSSDCLMYDTTWYSSVDQLDLRVLQFALPLSMLIAMGALLLCL
IGMCNTAFRSSVPNIKLAKCLVNSAGCHLVAGLLFFLAGTVSLSPSIWVIFYNIHLNKKFEPVFSFDYAVYVTIASAGGLFMTSLILFIWYCTCKSLPSPFWQPL
YSHPPSMHTYSQPYSARSRLSAIEIDIPVVSHTT
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MGCRDVHAATVLSFLCGIASVAGLFAGTLLPNWRKLRLITFNRNEKNLTVYTGLWVKCARYDGSSDCLMYDTTWYSSVDQLDLRVLQFALPLSMLIAMGALLLCL
IGMCNTAFRSSVPNIKLAKCLVNSAGCHLVAGLLFFLAGTVSLSPSIWVIFYNIHLNKKFEPVFSFDYAVYVTIASAGGLFMTSLILFIWYCTCKSLPSPFWQPL
YSHPPSMHTYSQPYSARSRLSAIEIDIPVVSHTT
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Bucan, 2009 | USA | SNP microarray | |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top