Evidence Details for NHS
Basic Information Top
| Gene Symbol: | NHS ( DKFZp781F2016,DKFZp781L0254,FLJ22511,SCML1 ) |
|---|---|
| Gene Full Name: | Nance-Horan syndrome (congenital cataracts and dental anomalies) |
| Band: | Xp22.2-p22.13 |
| Quick Links | Entrez ID:4810; OMIM: 300457; Uniprot ID:NHS_HUMAN; ENSEMBL ID: ENSG00000188158; HGNC ID: 7820 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NHS|4810|nucleotide
ATGGCTCTGGCCTGCTGCATGCCCAAGAATGCAGCCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAAC
ATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAACACCGGAGCCGGAGCGATCGC
CGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTT
TTAACGTTTAACAGCACCCGTTCGCCCTCCCCCACTGAATGTTGCCACATGACCCCGTGGAGTAGAAAGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATG
TTAGGGCAGAGGCCGAAAAACCCAATACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATG
AAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTACTGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAA
TCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAAGAAATAGATTCTGATGAATCACCAGTGGCCAGG
GAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATTCTGATTGCT
GCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACC
ATGTTTACTCCTGCAGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCA
TATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGC
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ATGGCTCTGGCCTGCTGCATGCCCAAGAATGCAGCCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAAC
ATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAACACCGGAGCCGGAGCGATCGC
CGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTT
TTAACGTTTAACAGCACCCGTTCGCCCTCCCCCACTGAATGTTGCCACATGACCCCGTGGAGTAGAAAGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATG
TTAGGGCAGAGGCCGAAAAACCCAATACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATG
AAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTACTGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAA
TCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAAGAAATAGATTCTGATGAATCACCAGTGGCCAGG
GAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATTCTGATTGCT
GCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACC
ATGTTTACTCCTGCAGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCA
TATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGC
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>NHS|4810|protein
MALACCMPKNAAVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHF
LTFNSTRSPSPTECCHMTPWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQ
SVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDT
MFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDIS
SNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSF
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MALACCMPKNAAVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHF
LTFNSTRSPSPTECCHMTPWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQ
SVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDT
MFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDIS
SNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSF
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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) | Yes | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 18 (4) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Nance-Horan syndrome (302350) |
| Description | Nance-Horan syndrome (congenital cataracts and dental anomalies) |
| Reference(s) | 9268101; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-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 | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Nava C, 2012 | France | - | | | ASD | 12 | - | 12 | - | - |
| McCarthy SE, 2014 | - | Illumina HiSeq2000 | | | autism | - | - | - | - | - |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.