Evidence Details for C22orf46


Gene Symbol: | C22orf46 ( FLJ23584 ) |
---|---|
Gene Full Name: | chromosome 22 open reading frame 46 |
Band: | 22q13.2 |
Quick Links | Entrez ID:79640; OMIM: NA; Uniprot ID:CV046_HUMAN; ENSEMBL ID: ENSG00000184208; HGNC ID: 26294 |
Relate to Another Database: | SFARIGene; denovo-db |


>C22orf46|79640|nucleotide
ATGTTGTTGTCACTGCTGGGTGCCTGTGCTGTGGTGGGGCCATTCCATGGCCCTGAGTGGGAGCCAGTGCAGGGCCTGCTCTCCCAGAATCACAGCTGCAGGGAC
CCTCAGTGCTGTGGCAACCTGCTTGTCCTCTGCCTCTTTCTGGTCTGGCAGGTCCGGCACTGTTGGCACCAGGTCACCAGGACCCGCTTCAGCACAAGGAATGTC
ATCAAGGTGCCACTGCAGAAGCGGGCAGTGCCCTCCATGAGGTGCGAAACTGTCTTCAAGCTGACTCCTGAATTCTTCAGTCCTGGAAAGTCCAGGGGCCTAGAT
TCTCAACAATGCGCACAAAGGCAGAGATGGGGATACCGGAGGAGCCTCCAGGAATCATGGGCCCAGAACCTGCTCTCTCCACAGCACCCATGTCCAGGCCCACCT
TCGGGTGTCCACACCCACTCTGAGCCCATCTTTTGTACCACCTCCATTTCAAACACCTGTTTACTGCCTCAGAACAGTTCCTGGAAAGCATGGCAGGTGCCTTGG
TGTCTCCATGATGGTCAGACTCGCCCTGCCTTGGACATGTGTCAAGAGATGGAGCAGCTGCTGCTTCACTCACAGGAAAGGTTGGTGTCACTGGAGCCTGTCATC
AGTGTGAGGTCTCGCCCCACCTCCATGACCTTAACCACCTCTCTTCCAAACTTACTTTCAGCTGAGAGGCTGCAGTTCTGCCCCCAGAGAGCTCCTGCCTGA
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ATGTTGTTGTCACTGCTGGGTGCCTGTGCTGTGGTGGGGCCATTCCATGGCCCTGAGTGGGAGCCAGTGCAGGGCCTGCTCTCCCAGAATCACAGCTGCAGGGAC
CCTCAGTGCTGTGGCAACCTGCTTGTCCTCTGCCTCTTTCTGGTCTGGCAGGTCCGGCACTGTTGGCACCAGGTCACCAGGACCCGCTTCAGCACAAGGAATGTC
ATCAAGGTGCCACTGCAGAAGCGGGCAGTGCCCTCCATGAGGTGCGAAACTGTCTTCAAGCTGACTCCTGAATTCTTCAGTCCTGGAAAGTCCAGGGGCCTAGAT
TCTCAACAATGCGCACAAAGGCAGAGATGGGGATACCGGAGGAGCCTCCAGGAATCATGGGCCCAGAACCTGCTCTCTCCACAGCACCCATGTCCAGGCCCACCT
TCGGGTGTCCACACCCACTCTGAGCCCATCTTTTGTACCACCTCCATTTCAAACACCTGTTTACTGCCTCAGAACAGTTCCTGGAAAGCATGGCAGGTGCCTTGG
TGTCTCCATGATGGTCAGACTCGCCCTGCCTTGGACATGTGTCAAGAGATGGAGCAGCTGCTGCTTCACTCACAGGAAAGGTTGGTGTCACTGGAGCCTGTCATC
AGTGTGAGGTCTCGCCCCACCTCCATGACCTTAACCACCTCTCTTCCAAACTTACTTTCAGCTGAGAGGCTGCAGTTCTGCCCCCAGAGAGCTCCTGCCTGA
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>C22orf46|79640|protein
MLLSLLGACAVVGPFHGPEWEPVQGLLSQNHSCRDPQCCGNLLVLCLFLVWQVRHCWHQVTRTRFSTRNVIKVPLQKRAVPSMRCETVFKLTPEFFSPGKSRGLD
SQQCAQRQRWGYRRSLQESWAQNLLSPQHPCPGPPSGVHTHSEPIFCTTSISNTCLLPQNSSWKAWQVPWCLHDGQTRPALDMCQEMEQLLLHSQERLVSLEPVI
SVRSRPTSMTLTTSLPNLLSAERLQFCPQRAPA
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MLLSLLGACAVVGPFHGPEWEPVQGLLSQNHSCRDPQCCGNLLVLCLFLVWQVRHCWHQVTRTRFSTRNVIKVPLQKRAVPSMRCETVFKLTPEFFSPGKSRGLD
SQQCAQRQRWGYRRSLQESWAQNLLSPQHPCPGPPSGVHTHSEPIFCTTSISNTCLLPQNSSWKAWQVPWCLHDGQTRPALDMCQEMEQLLLHSQERLVSLEPVI
SVRSRPTSMTLTTSLPNLLSAERLQFCPQRAPA
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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 | ||||||
Prasad, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
Zwaag, 2009 | - | SNP microarray | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 |














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