AutismKB 2.0

Evidence Details for EXT2


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Basic Information Top
Gene Symbol:EXT2 ( SOTV )
Gene Full Name: exostosin 2
Band: 11p11.2
Quick LinksEntrez ID:2132; OMIM: 608210; Uniprot ID:EXT2_HUMAN; ENSEMBL ID: ENSG00000151348; HGNC ID: 3513
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EXT2|2132|nucleotide
ATGTCCTGCGCCTCAGGGTCCGGTGGTGGCCTGCGGCATCCCTTGCGGTGCCAGAAGCCGTGGGACGAGGAGTGTGAGGAAGAGGCTGTCTGTGTCATTATGTGT
GCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTC
ATTGCCACTGGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAGCGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCA
GCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCAAAGAACAAAATCAAGGTGTAT
ATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTCTCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGTGACTAC
TACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTTAACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTC
TCTAGGTGGGATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAACACAGCCCTGGATGTCCCCAGAGACAGGGCCCTGTTG
GCTGGTGGCGGCTTTTCTACGTGGACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTGGATCTTCCAGAGAAAGGACCA
GGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGTCTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTGTTAGTA
CTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGCCACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGAGGCTACTTTC
TGTGTGGTTCTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTC
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>EXT2|2132|protein
MSCASGSGGGLRHPLRCQKPWDEECEEEAVCVIMCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVRLP
ADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQL
SRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLV
LDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEE
MQRQARWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQ
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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 (2) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 13 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top