Evidence Details for DEFB107B


Gene Symbol: | DEFB107B ( DEFB107A,HsT21816 ) |
---|---|
Gene Full Name: | defensin, beta 107B |
Band: | 8p23.1 |
Quick Links | Entrez ID:503614; OMIM: NA; Uniprot ID:D107A_HUMAN; ENSEMBL ID: ENSG00000198129; HGNC ID: 31918 |
Relate to Another Database: | SFARIGene; denovo-db |


>DEFB107B|503614|nucleotide
ATGCCTGGAGCCATGAAAATATTTGTCTTTATTTTGGCTGCTCTCATTCTTCTTGCTCAAATTTTCCAAGCCAGGACAGCAATTCATAGAGCACTAATTAGTAAG
AGAATGGAAGGTCACTGTGAAGCCGAATGTCTTACCTTTGAAGTAAAGATTGGGGGCTGTAGAGCTGAATTAGCACCATTTTGCTGCAAAAACAGAAAGAAACAT
TAA
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ATGCCTGGAGCCATGAAAATATTTGTCTTTATTTTGGCTGCTCTCATTCTTCTTGCTCAAATTTTCCAAGCCAGGACAGCAATTCATAGAGCACTAATTAGTAAG
AGAATGGAAGGTCACTGTGAAGCCGAATGTCTTACCTTTGAAGTAAAGATTGGGGGCTGTAGAGCTGAATTAGCACCATTTTGCTGCAAAAACAGAAAGAAACAT
TAA
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>DEFB107B|503614|protein
MPGAMKIFVFILAALILLAQIFQARTAIHRALISKRMEGHCEAECLTFEVKIGGCRAELAPFCCKNRKKH
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MPGAMKIFVFILAALILLAQIFQARTAIHRALISKRMEGHCEAECLTFEVKIGGCRAELAPFCCKNRKKH
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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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
Papanikolaou, 2006 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Cho, 2009 | Korea | aCGH | ![]() | ![]() | ASD | - | - | - | - | 28 | 62 | 90 |














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