Evidence Details for LRRC16A
Basic Information Top
Gene Symbol: | LRRC16A ( CARMIL,CARMIL1,CARMIL1a,FLJ20048,FLJ43708,LRRC16,dJ501N12.1,dJ501N12.5 ) |
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Gene Full Name: | leucine rich repeat containing 16A |
Band: | 6p22.2 |
Quick Links | Entrez ID:55604; OMIM: 609593; Uniprot ID:LR16A_HUMAN; ENSEMBL ID: ENSG00000079691; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>LRRC16A|55604|nucleotide
ATGACCGAGGAGAGCTCTGACGTTCCCAGGGAGTTGATAGAAAGCATAAAGGATGTTATTGGCAGAAAGATAAAAATTTCAGTGAAGAAGAAAGTAAAGTTGGAA
GTTAAGGGAGACAAAGTTGAAAACAAAGTGCTGGTCCTTACATCATGCCGAGCCTTCCTTGTAACAGCGCGAATCCCCACCAAGCTCGAGTTAACCTTCAGCTAC
TTGGAGATTCATGGCGTCGTTTGCAGCAAGTCAGCTCAGATGATTGTGGAAACTGAGAAGTGCAGCATTTCCATGAAGATGGCGTCACCCGAGGACGTGAGTGAG
GTGCTGGCTCACATAGGCACCTGCCTGAGGAAGATATTTCCTGGCCTCTCTCCAGTGAGAATCATGAAAAAAGTCTCCATGGAGCCATCTGAGCGCCTGGCTAGT
CTCCAGGCGCTGTGGGACAGCCAGACCGTGGCTGAGCAGGGCCCCTGTGGTGGATTTTCTCAGATGTATGCCTGTGTTTGTGACTGGCTTGGATTTTCATACAGG
GAAGAAGTACAATGGGATGTGGATACAATTTATCTTACCCAAGACACCAGGGAATTGAATTTACAAGATTTTAGTCATCTTGACCACAGGGACCTAATACCTATC
ATTGCTGCTCTGGAATATAATCAGTGGTTCACAAAACTGTCCTCTAAGGATCTAAAACTGTCCACTGATGTCTGTGAACAGATCTTGAGGGTGGTGAGTAGGTCC
AATCGACTGGAAGAATTGGTGTTGGAAAATGCTGGACTTAGAACAGATTTTGCACAAAAACTGGCCAGTGCTCTAGCACATAATCCCAACTCAGGACTCCACACA
ATTAACCTTGCTGGCAACCCACTGGAGGATAGAGGTGTGTCCTCTTTAAGTATTCAATTTGCCAAACTCCCAAAGGGATTAAAGCACTTAAATTTATCTAAAACC
TCATTATCACCTAAAGGGGTGAACAGCCTTTCTCAGTCACTCAGTGCCAATCCATTGACCGCCTCTACCCTTGTCCACCTCGACCTCTCAGGGAACGTCCTTCGT
GGAGATGACCTCTCACACATGTATAATTTTTTGGCCCAGCCAAATGCCATTGTTCATCTGGATTTATCCAATACAGAATGTTCCCTGGACATGGTCTGTGGAGCT
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ATGACCGAGGAGAGCTCTGACGTTCCCAGGGAGTTGATAGAAAGCATAAAGGATGTTATTGGCAGAAAGATAAAAATTTCAGTGAAGAAGAAAGTAAAGTTGGAA
GTTAAGGGAGACAAAGTTGAAAACAAAGTGCTGGTCCTTACATCATGCCGAGCCTTCCTTGTAACAGCGCGAATCCCCACCAAGCTCGAGTTAACCTTCAGCTAC
TTGGAGATTCATGGCGTCGTTTGCAGCAAGTCAGCTCAGATGATTGTGGAAACTGAGAAGTGCAGCATTTCCATGAAGATGGCGTCACCCGAGGACGTGAGTGAG
GTGCTGGCTCACATAGGCACCTGCCTGAGGAAGATATTTCCTGGCCTCTCTCCAGTGAGAATCATGAAAAAAGTCTCCATGGAGCCATCTGAGCGCCTGGCTAGT
CTCCAGGCGCTGTGGGACAGCCAGACCGTGGCTGAGCAGGGCCCCTGTGGTGGATTTTCTCAGATGTATGCCTGTGTTTGTGACTGGCTTGGATTTTCATACAGG
GAAGAAGTACAATGGGATGTGGATACAATTTATCTTACCCAAGACACCAGGGAATTGAATTTACAAGATTTTAGTCATCTTGACCACAGGGACCTAATACCTATC
ATTGCTGCTCTGGAATATAATCAGTGGTTCACAAAACTGTCCTCTAAGGATCTAAAACTGTCCACTGATGTCTGTGAACAGATCTTGAGGGTGGTGAGTAGGTCC
AATCGACTGGAAGAATTGGTGTTGGAAAATGCTGGACTTAGAACAGATTTTGCACAAAAACTGGCCAGTGCTCTAGCACATAATCCCAACTCAGGACTCCACACA
ATTAACCTTGCTGGCAACCCACTGGAGGATAGAGGTGTGTCCTCTTTAAGTATTCAATTTGCCAAACTCCCAAAGGGATTAAAGCACTTAAATTTATCTAAAACC
TCATTATCACCTAAAGGGGTGAACAGCCTTTCTCAGTCACTCAGTGCCAATCCATTGACCGCCTCTACCCTTGTCCACCTCGACCTCTCAGGGAACGTCCTTCGT
GGAGATGACCTCTCACACATGTATAATTTTTTGGCCCAGCCAAATGCCATTGTTCATCTGGATTTATCCAATACAGAATGTTCCCTGGACATGGTCTGTGGAGCT
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>LRRC16A|55604|protein
MTEESSDVPRELIESIKDVIGRKIKISVKKKVKLEVKGDKVENKVLVLTSCRAFLVTARIPTKLELTFSYLEIHGVVCSKSAQMIVETEKCSISMKMASPEDVSE
VLAHIGTCLRKIFPGLSPVRIMKKVSMEPSERLASLQALWDSQTVAEQGPCGGFSQMYACVCDWLGFSYREEVQWDVDTIYLTQDTRELNLQDFSHLDHRDLIPI
IAALEYNQWFTKLSSKDLKLSTDVCEQILRVVSRSNRLEELVLENAGLRTDFAQKLASALAHNPNSGLHTINLAGNPLEDRGVSSLSIQFAKLPKGLKHLNLSKT
SLSPKGVNSLSQSLSANPLTASTLVHLDLSGNVLRGDDLSHMYNFLAQPNAIVHLDLSNTECSLDMVCGALLRGCLQYLAVLNLSRTVFSHRKGKEVPPSFKQFF
SSSLALMHINLSGTKLSPEPLKALLLGLACNHNLKGVSLDLSNCELRSGGAQVLEGCIAEIHNITSLDISDNGLESDLSTLIVWLSKNRSIQHLALGKNFNNMKS
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MTEESSDVPRELIESIKDVIGRKIKISVKKKVKLEVKGDKVENKVLVLTSCRAFLVTARIPTKLELTFSYLEIHGVVCSKSAQMIVETEKCSISMKMASPEDVSE
VLAHIGTCLRKIFPGLSPVRIMKKVSMEPSERLASLQALWDSQTVAEQGPCGGFSQMYACVCDWLGFSYREEVQWDVDTIYLTQDTRELNLQDFSHLDHRDLIPI
IAALEYNQWFTKLSSKDLKLSTDVCEQILRVVSRSNRLEELVLENAGLRTDFAQKLASALAHNPNSGLHTINLAGNPLEDRGVSSLSIQFAKLPKGLKHLNLSKT
SLSPKGVNSLSQSLSANPLTASTLVHLDLSGNVLRGDDLSHMYNFLAQPNAIVHLDLSNTECSLDMVCGALLRGCLQYLAVLNLSRTVFSHRKGKEVPPSFKQFF
SSSLALMHINLSGTKLSPEPLKALLLGLACNHNLKGVSLDLSNCELRSGGAQVLEGCIAEIHNITSLDISDNGLESDLSTLIVWLSKNRSIQHLALGKNFNNMKS
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Evidence summary Top
Click 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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Guerini, 2010 | Italy | microsatellite-based genomic screen, SNP-based genomic screen | ASD | 61 | 61 | - | - | 61 | 149 | 210 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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