Evidence Details for KCNMB4
Basic Information Top
| Gene Symbol: | KCNMB4 ( - ) |
|---|---|
| Gene Full Name: | potassium large conductance calcium-activated channel, subfamily M, beta member 4 |
| Band: | 12q15 |
| Quick Links | Entrez ID:27345; OMIM: 605223; Uniprot ID:KCMB4_HUMAN; ENSEMBL ID: ENSG00000135643; HGNC ID: 6289 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KCNMB4|27345|nucleotide
ATGGCGAAGCTCCGGGTGGCTTACGAGTACACGGAAGCCGAGGACAAGAGCATCCGGCTCGGCTTGTTTCTCATCATCTCCGGCGTCGTGTCGCTCTTCATCTTC
GGCTTCTGCTGGCTGAGTCCCGCGCTGCAGGATCTGCAAGCCACGGAGGCCAATTGCACGGTGCTGTCGGTGCAGCAGATCGGCGAGGTGTTCGAGTGCACCTTC
ACCTGTGGCGCCGACTGCAGGGGCACCTCGCAGTACCCCTGCGTCCAGGTCTACGTGAACAACTCTGAGTCCAACTCTAGGGCGCTGCTGCACAGCGACGAGCAC
CAGCTCCTGACCAACCCCAAGTGCTCCTATATCCCTCCCTGTAAGAGAGAAAATCAGAAGAATTTGGAAAGTGTCATGAATTGGCAACAGTACTGGAAAGATGAG
ATTGGTTCCCAGCCATTTACTTGCTATTTTAATCAACATCAAAGACCAGATGATGTGCTTCTGCATCGCACTCATGATGAGATTGTCCTCCTGCATTGCTTCCTC
TGGCCCCTGGTGACATTTGTGGTGGGCGTTCTCATTGTGGTCCTGACCATCTGTGCCAAGAGCTTGGCGGTCAAGGCGGAAGCCATGAAGAAGCGCAAGTTCTCT
TAA
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ATGGCGAAGCTCCGGGTGGCTTACGAGTACACGGAAGCCGAGGACAAGAGCATCCGGCTCGGCTTGTTTCTCATCATCTCCGGCGTCGTGTCGCTCTTCATCTTC
GGCTTCTGCTGGCTGAGTCCCGCGCTGCAGGATCTGCAAGCCACGGAGGCCAATTGCACGGTGCTGTCGGTGCAGCAGATCGGCGAGGTGTTCGAGTGCACCTTC
ACCTGTGGCGCCGACTGCAGGGGCACCTCGCAGTACCCCTGCGTCCAGGTCTACGTGAACAACTCTGAGTCCAACTCTAGGGCGCTGCTGCACAGCGACGAGCAC
CAGCTCCTGACCAACCCCAAGTGCTCCTATATCCCTCCCTGTAAGAGAGAAAATCAGAAGAATTTGGAAAGTGTCATGAATTGGCAACAGTACTGGAAAGATGAG
ATTGGTTCCCAGCCATTTACTTGCTATTTTAATCAACATCAAAGACCAGATGATGTGCTTCTGCATCGCACTCATGATGAGATTGTCCTCCTGCATTGCTTCCTC
TGGCCCCTGGTGACATTTGTGGTGGGCGTTCTCATTGTGGTCCTGACCATCTGTGCCAAGAGCTTGGCGGTCAAGGCGGAAGCCATGAAGAAGCGCAAGTTCTCT
TAA
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>KCNMB4|27345|protein
MAKLRVAYEYTEAEDKSIRLGLFLIISGVVSLFIFGFCWLSPALQDLQATEANCTVLSVQQIGEVFECTFTCGADCRGTSQYPCVQVYVNNSESNSRALLHSDEH
QLLTNPKCSYIPPCKRENQKNLESVMNWQQYWKDEIGSQPFTCYFNQHQRPDDVLLHRTHDEIVLLHCFLWPLVTFVVGVLIVVLTICAKSLAVKAEAMKKRKFS
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MAKLRVAYEYTEAEDKSIRLGLFLIISGVVSLFIFGFCWLSPALQDLQATEANCTVLSVQQIGEVFECTFTCGADCRGTSQYPCVQVYVNNSESNSRALLHSDEH
QLLTNPKCSYIPPCKRENQKNLESVMNWQQYWKDEIGSQPFTCYFNQHQRPDDVLLHRTHDEIVLLHCFLWPLVTFVVGVLIVVLTICAKSLAVKAEAMKKRKFS
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top