Evidence Details for EXT2
Basic Information Top
| Gene Symbol: | EXT2 ( SOTV ) |
|---|---|
| Gene Full Name: | exostosin 2 |
| Band: | 11p11.2 |
| Quick Links | Entrez 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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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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MSCASGSGGGLRHPLRCQKPWDEECEEEAVCVIMCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVRLP
ADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQL
SRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLV
LDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEE
MQRQARWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQ
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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) | No | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 13 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen |  |  | PDD | 345 | - | 345 | - | - | - | - |
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.529 | Up | 0.0182 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top 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.