Evidence Details for C2CD4B
Basic Information Top
| Gene Symbol: | C2CD4B ( FAM148B,NLF2 ) |
|---|---|
| Gene Full Name: | C2 calcium-dependent domain containing 4B |
| Band: | 15q22.2 |
| Quick Links | Entrez ID:388125; OMIM: 610344; Uniprot ID:C2C4B_HUMAN; ENSEMBL ID: ENSG00000205502; HGNC ID: 33628 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C2CD4B|388125|nucleotide
ATGCGGCTCCTCGAGAAACTCTGTTCCTCGGCCGCAGGCAGCTCCGCGCCGAAGCCCGCCTTCGCCAAAGTGCTCACGCCGAATCGCATCCCCGAATTCTGCATC
CCGCCGCGGCTGCCGGCCCCTTGCACGCTCGAGTCTCCAATCCGGGCCGCCGCCGTGCCCCGGCGCTGCGCCGCTGAAAGCGACCTGTGGCCCCGCGCGGCAGAC
GAGGACGCCGGCCGCACGGACTGGGACCCGCGCTCGCAGGCAGCGCTGTCACTGCCGCACCTGCCCCGTGTGCGCACCACCTACGGCTTCTGCGCGCTGCTCGAG
AGCCCGCACACGCGCCGCAAGGAGTCGCTCCTGCTCGGGGGCCCGCCCGCGCCCCGGCCCCGGGCCCACAGCTGCGGCGGCGGCGGAGGCCCGGACGCCCCCCTG
GGGACCCTGTGCGGCCCGCGAGGTCCGGGCCCGGCCACCCCCGCGGCCCCCGGCGGTCCCCGCCTGCCCCAGGACGCGCTCGCTGCGGGGCCCCGCCGCTGCCGC
CTCCTGCGCGTCCCCGACGGGCTGCTGAGTCGCGCGCTGCGGGCTGGAAGGAGTCGCCGCCTGGCCCGCGTCCGCTCCGTCTCCAGCGGGAACGAGGACGAGGAG
CGCCGCGCGGGATCCGAGTCCCCGGCCCGGGCCCCCTCCTCGAGCCCGCTGTCATCCAGGGCCCCGCTTCCTGAGCGCCTGGAGGCCAAGGGCACCGTGGCTCTG
GGCCGCGCCGGCGACGCCCTGCGCCTGGCTGCTGAGTACTGTCCGGGAACCCGGCGTCTCCGCCTCCGGCTGCTCCGCGCGGAGAGCCTGTTCGGAGGCGCCCCC
GGGCCCCGCGCCGTCCGCTGCCGCCTCAGCCTCGTCCTGCGGCCGCCGGGCACTGCGCGTTGGCAATGCAGCGCTGTGGTGGGGCGCAGCCGCAAGGCCTCCTTT
GACCAGGACTTTTGCTTCGACGGCCTCTCGGAAGACGAGGTGCGCCGCCTGGCCGTTCGCGTCAAGGCCCGGGATGAGGGTCGCGGCCGGGATCGGGGCCGCCTG
CTGGGCCAGGGTGAGCTGTCCCTGGGCGCCCTCCTGCTGCTCTGA
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ATGCGGCTCCTCGAGAAACTCTGTTCCTCGGCCGCAGGCAGCTCCGCGCCGAAGCCCGCCTTCGCCAAAGTGCTCACGCCGAATCGCATCCCCGAATTCTGCATC
CCGCCGCGGCTGCCGGCCCCTTGCACGCTCGAGTCTCCAATCCGGGCCGCCGCCGTGCCCCGGCGCTGCGCCGCTGAAAGCGACCTGTGGCCCCGCGCGGCAGAC
GAGGACGCCGGCCGCACGGACTGGGACCCGCGCTCGCAGGCAGCGCTGTCACTGCCGCACCTGCCCCGTGTGCGCACCACCTACGGCTTCTGCGCGCTGCTCGAG
AGCCCGCACACGCGCCGCAAGGAGTCGCTCCTGCTCGGGGGCCCGCCCGCGCCCCGGCCCCGGGCCCACAGCTGCGGCGGCGGCGGAGGCCCGGACGCCCCCCTG
GGGACCCTGTGCGGCCCGCGAGGTCCGGGCCCGGCCACCCCCGCGGCCCCCGGCGGTCCCCGCCTGCCCCAGGACGCGCTCGCTGCGGGGCCCCGCCGCTGCCGC
CTCCTGCGCGTCCCCGACGGGCTGCTGAGTCGCGCGCTGCGGGCTGGAAGGAGTCGCCGCCTGGCCCGCGTCCGCTCCGTCTCCAGCGGGAACGAGGACGAGGAG
CGCCGCGCGGGATCCGAGTCCCCGGCCCGGGCCCCCTCCTCGAGCCCGCTGTCATCCAGGGCCCCGCTTCCTGAGCGCCTGGAGGCCAAGGGCACCGTGGCTCTG
GGCCGCGCCGGCGACGCCCTGCGCCTGGCTGCTGAGTACTGTCCGGGAACCCGGCGTCTCCGCCTCCGGCTGCTCCGCGCGGAGAGCCTGTTCGGAGGCGCCCCC
GGGCCCCGCGCCGTCCGCTGCCGCCTCAGCCTCGTCCTGCGGCCGCCGGGCACTGCGCGTTGGCAATGCAGCGCTGTGGTGGGGCGCAGCCGCAAGGCCTCCTTT
GACCAGGACTTTTGCTTCGACGGCCTCTCGGAAGACGAGGTGCGCCGCCTGGCCGTTCGCGTCAAGGCCCGGGATGAGGGTCGCGGCCGGGATCGGGGCCGCCTG
CTGGGCCAGGGTGAGCTGTCCCTGGGCGCCCTCCTGCTGCTCTGA
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>C2CD4B|388125|protein
MRLLEKLCSSAAGSSAPKPAFAKVLTPNRIPEFCIPPRLPAPCTLESPIRAAAVPRRCAAESDLWPRAADEDAGRTDWDPRSQAALSLPHLPRVRTTYGFCALLE
SPHTRRKESLLLGGPPAPRPRAHSCGGGGGPDAPLGTLCGPRGPGPATPAAPGGPRLPQDALAAGPRRCRLLRVPDGLLSRALRAGRSRRLARVRSVSSGNEDEE
RRAGSESPARAPSSSPLSSRAPLPERLEAKGTVALGRAGDALRLAAEYCPGTRRLRLRLLRAESLFGGAPGPRAVRCRLSLVLRPPGTARWQCSAVVGRSRKASF
DQDFCFDGLSEDEVRRLAVRVKARDEGRGRDRGRLLGQGELSLGALLLL
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MRLLEKLCSSAAGSSAPKPAFAKVLTPNRIPEFCIPPRLPAPCTLESPIRAAAVPRRCAAESDLWPRAADEDAGRTDWDPRSQAALSLPHLPRVRTTYGFCALLE
SPHTRRKESLLLGGPPAPRPRAHSCGGGGGPDAPLGTLCGPRGPGPATPAAPGGPRLPQDALAAGPRRCRLLRVPDGLLSRALRAGRSRRLARVRSVSSGNEDEE
RRAGSESPARAPSSSPLSSRAPLPERLEAKGTVALGRAGDALRLAAEYCPGTRRLRLRLLRAESLFGGAPGPRAVRCRLSLVLRPPGTARWQCSAVVGRSRKASF
DQDFCFDGLSEDEVRRLAVRVKARDEGRGRDRGRLLGQGELSLGALLLL
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Smith, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top