AutismKB 2.0

Evidence Details for VSX2


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Basic Information Top
Gene Symbol:VSX2 ( CHX10,HOX10,MCOP2,MCOPCB3,RET1 )
Gene Full Name: visual system homeobox 2
Band: 14q24.3
Quick LinksEntrez ID:338917; OMIM: 142993; Uniprot ID:VSX2_HUMAN; ENSEMBL ID: ENSG00000119614; HGNC ID: 1975
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VSX2|338917|nucleotide
ATGACGGGGAAAGCAGGGGAAGCGCTGAGCAAGCCCAAATCCGAGACAGTGGCCAAGAGTACCTCGGGGGGCGCCCCGGCCAGGTGCACTGGGTTCGGCATCCAG
GAGATCCTGGGCTTGAACAAGGAGCCCCCGAGCTCCCACCCGCGGGCAGCGCTCGACGGCCTGGCCCCCGGGCACTTGCTGGCGGCGCGCTCAGTGCTCAGCCCC
GCGGGGGTGGGCGGCATGGGGCTTCTGGGGCCCGGGGGGCTCCCTGGCTTCTACACGCAGCCCACCTTCCTGGAAGTGCTGTCCGACCCGCAGAGCGTCCACTTG
CAGCCATTGGGCAGAGCATCGGGGCCGCTGGACACCAGCCAGACGGCCAGCTCGGATTCTGAAGATGTTTCCTCCAGCGATCGAAAAATGTCCAAATCTGCTTTA
AACCAGACCAAGAAACGGAAGAAGCGGCGACACAGGACAATCTTTACCTCCTACCAGCTAGAGGAGCTGGAGAAGGCATTCAACGAAGCCCACTACCCAGACGTC
TATGCCCGGGAGATGCTGGCCATGAAAACGGAGCTGCCGGAAGACAGGATACAGGTCTGGTTCCAGAACCGTCGAGCCAAGTGGAGGAAGCGGGAGAAGTGCTGG
GGCCGGAGCAGTGTCATGGCGGAGTATGGGCTCTACGGGGCCATGGTGCGGCACTCCATCCCCCTGCCCGAGTCCATCCTCAAGTCAGCCAAGGATGGCATCATG
GACTCCTGTGCCCCGTGGCTACTGGGGATGCACAAAAAGTCGCTGGAGGCAGCAGCCGAGTCGGGGAGGAAGCCCGAGGGGGAACGCCAGGCCCTGCCCAAGCTC
GACAAGATGGAGCAGGACGAGCGGGGCCCCGACGCTCAGGCGGCCATCTCCCAGGAGGAACTGAGGGAGAACAGCATTGCGGTGCTCCGGGCCAAAGCTCAGGAG
CACAGCACCAAAGTGCTGGGGACTGTGTCTGGGCCGGACAGCCTGGCCCGGAGTACCGAGAAGCCAGAGGAGGAGGAGGCCATGGATGAAGACAGGCCGGCGGAG
AGGCTCAGTCCACCGCAGCTGGAGGACATGGCTTAG
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>VSX2|338917|protein
MTGKAGEALSKPKSETVAKSTSGGAPARCTGFGIQEILGLNKEPPSSHPRAALDGLAPGHLLAARSVLSPAGVGGMGLLGPGGLPGFYTQPTFLEVLSDPQSVHL
QPLGRASGPLDTSQTASSDSEDVSSSDRKMSKSALNQTKKRKKRRHRTIFTSYQLEELEKAFNEAHYPDVYAREMLAMKTELPEDRIQVWFQNRRAKWRKREKCW
GRSSVMAEYGLYGAMVRHSIPLPESILKSAKDGIMDSCAPWLLGMHKKSLEAAAESGRKPEGERQALPKLDKMEQDERGPDAQAAISQEELRENSIAVLRAKAQE
HSTKVLGTVSGPDSLARSTEKPEEEEAMDEDRPAERLSPPQLEDMA

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Evidence summary Top

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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) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top