Evidence Details for TEX2
Basic Information Top
Gene Symbol: | TEX2 ( DKFZp781G0721,HT008,KIAA1738,TMEM96 ) |
---|---|
Gene Full Name: | testis expressed 2 |
Band: | 17q23.3 |
Quick Links | Entrez ID:55852; OMIM: NA; Uniprot ID:TEX2_HUMAN; ENSEMBL ID: ENSG00000136478; HGNC ID: 30884 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TEX2|55852|nucleotide
ATGACAAGTCTGTATGGTCGCCATGCCGAGAAAACCACTGACATGCCAAAACCATCAGCCCCTAAAGTGCACGTGCAGAGGTCCGTGTCCCGAGATACCATCGCC
ATTCACTTCTCGGCATCCGGCGAGGAGGAGGAGGAAGAGGAGGAGGAGTTCAGGGAGTACTTTGAGGAGGGGCTGGATGACCAAAGCATTGTAACAGGGCTGGAA
GCCAAGGAAGACCTCTATCTTGAACCCCAAGTTGGCCATGACCCCGCCGGCCCTGCTGCCTCGCCTGTCCTGGCAGATGGACTGTCCGTGTCCCAGGCCCCTGCC
ATTTTGCCCGTCTCCAAGAACACTGTAAAGCTGTTGGAGTCCCCTGTTCCAGCAGCACAAGTATTAAGTACAGTGCCATTGGCTGTGTCCCCAGGGTCGTCTTCG
TCGGGGCCCTTAGCTAGCTCTCCCAGTGTGTCATCCCTTTCTGAGCAGAAAACCAGTTCTTCCTCCCCATTGTCCTCTCCTTCTAAGTCTCCCATCCTCTCATCC
AGTGCCTCAACCTCCACCCTTTCCAGTGCAAAACCCTTCATGAGCCTTGTGAAGTCCCTGTCGACCGAGGTGGAGCCAAAAGAATCCCCACACCCCGCAAGGCAC
AGGCACTTGATGAAGACATTAGTCAAGTCTCTGTCCACGGACACTTCCCGGCAGGAGTCGGATACAGTGTCCTATAAGCCACCTGATTCCAAACTGAACTTACAC
CTGTTCAAGCAGTTCACACAGCCCCGAAACACAGGTGGAGATTCCAAAACTGCACCTTCTTCCCCACTGACTTCTCCCTCTGATACTCGTTCCTTTTTTAAAGTG
CCCGAAATGGAGGCTAAAATTGAAGATACTAAACGACGCCTTTCAGAAGTCATCTATGAGCCTTTTCAGCTCCTTAGTAAAATTATAGGGGAAGAAAGTGGCAGC
CATAGGCCCAAAGCCTTATCTTCAAGTGCTTCAGAACTCTCCAATCTGTCCAGCTTGAATGGGCACTTGGAAAGCAATAACAACTACAGCATCAAGGAGGAGGAG
TGTGATTCTGAGGGGGATGGCTACGGAAGTGATTCCAACATCCCCAGAAGTGACCACCCAAAGTCCACTGGTGAGCCCACAAGAGAGATAGAACTGAAAAGTTCC
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ATGACAAGTCTGTATGGTCGCCATGCCGAGAAAACCACTGACATGCCAAAACCATCAGCCCCTAAAGTGCACGTGCAGAGGTCCGTGTCCCGAGATACCATCGCC
ATTCACTTCTCGGCATCCGGCGAGGAGGAGGAGGAAGAGGAGGAGGAGTTCAGGGAGTACTTTGAGGAGGGGCTGGATGACCAAAGCATTGTAACAGGGCTGGAA
GCCAAGGAAGACCTCTATCTTGAACCCCAAGTTGGCCATGACCCCGCCGGCCCTGCTGCCTCGCCTGTCCTGGCAGATGGACTGTCCGTGTCCCAGGCCCCTGCC
ATTTTGCCCGTCTCCAAGAACACTGTAAAGCTGTTGGAGTCCCCTGTTCCAGCAGCACAAGTATTAAGTACAGTGCCATTGGCTGTGTCCCCAGGGTCGTCTTCG
TCGGGGCCCTTAGCTAGCTCTCCCAGTGTGTCATCCCTTTCTGAGCAGAAAACCAGTTCTTCCTCCCCATTGTCCTCTCCTTCTAAGTCTCCCATCCTCTCATCC
AGTGCCTCAACCTCCACCCTTTCCAGTGCAAAACCCTTCATGAGCCTTGTGAAGTCCCTGTCGACCGAGGTGGAGCCAAAAGAATCCCCACACCCCGCAAGGCAC
AGGCACTTGATGAAGACATTAGTCAAGTCTCTGTCCACGGACACTTCCCGGCAGGAGTCGGATACAGTGTCCTATAAGCCACCTGATTCCAAACTGAACTTACAC
CTGTTCAAGCAGTTCACACAGCCCCGAAACACAGGTGGAGATTCCAAAACTGCACCTTCTTCCCCACTGACTTCTCCCTCTGATACTCGTTCCTTTTTTAAAGTG
CCCGAAATGGAGGCTAAAATTGAAGATACTAAACGACGCCTTTCAGAAGTCATCTATGAGCCTTTTCAGCTCCTTAGTAAAATTATAGGGGAAGAAAGTGGCAGC
CATAGGCCCAAAGCCTTATCTTCAAGTGCTTCAGAACTCTCCAATCTGTCCAGCTTGAATGGGCACTTGGAAAGCAATAACAACTACAGCATCAAGGAGGAGGAG
TGTGATTCTGAGGGGGATGGCTACGGAAGTGATTCCAACATCCCCAGAAGTGACCACCCAAAGTCCACTGGTGAGCCCACAAGAGAGATAGAACTGAAAAGTTCC
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>TEX2|55852|protein
MTSLYGRHAEKTTDMPKPSAPKVHVQRSVSRDTIAIHFSASGEEEEEEEEEFREYFEEGLDDQSIVTGLEAKEDLYLEPQVGHDPAGPAASPVLADGLSVSQAPA
ILPVSKNTVKLLESPVPAAQVLSTVPLAVSPGSSSSGPLASSPSVSSLSEQKTSSSSPLSSPSKSPILSSSASTSTLSSAKPFMSLVKSLSTEVEPKESPHPARH
RHLMKTLVKSLSTDTSRQESDTVSYKPPDSKLNLHLFKQFTQPRNTGGDSKTAPSSPLTSPSDTRSFFKVPEMEAKIEDTKRRLSEVIYEPFQLLSKIIGEESGS
HRPKALSSSASELSNLSSLNGHLESNNNYSIKEEECDSEGDGYGSDSNIPRSDHPKSTGEPTREIELKSSQGSSLKDLGLKTSSLVLEKCSLSALVSKEDEEFCE
LYTEDFDLETEGESKVDKLSDIPLKPEVLAEDGVVLDSEDEVDSAVQHPELPVKTLGFFIMCVYVYLILPLPHYVSGLFLGIGLGFMTAVCVIWFFTPPSAHKYH
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MTSLYGRHAEKTTDMPKPSAPKVHVQRSVSRDTIAIHFSASGEEEEEEEEEFREYFEEGLDDQSIVTGLEAKEDLYLEPQVGHDPAGPAASPVLADGLSVSQAPA
ILPVSKNTVKLLESPVPAAQVLSTVPLAVSPGSSSSGPLASSPSVSSLSEQKTSSSSPLSSPSKSPILSSSASTSTLSSAKPFMSLVKSLSTEVEPKESPHPARH
RHLMKTLVKSLSTDTSRQESDTVSYKPPDSKLNLHLFKQFTQPRNTGGDSKTAPSSPLTSPSDTRSFFKVPEMEAKIEDTKRRLSEVIYEPFQLLSKIIGEESGS
HRPKALSSSASELSNLSSLNGHLESNNNYSIKEEECDSEGDGYGSDSNIPRSDHPKSTGEPTREIELKSSQGSSLKDLGLKTSSLVLEKCSLSALVSKEDEEFCE
LYTEDFDLETEGESKVDKLSDIPLKPEVLAEDGVVLDSEDEVDSAVQHPELPVKTLGFFIMCVYVYLILPLPHYVSGLFLGIGLGFMTAVCVIWFFTPPSAHKYH
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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