Evidence Details for TLE2
Basic Information Top
Gene Symbol: | TLE2 ( ESG,ESG2,FLJ41188,GRG2 ) |
---|---|
Gene Full Name: | transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) |
Band: | 19p13.3 |
Quick Links | Entrez ID:7089; OMIM: 601041; Uniprot ID:TLE2_HUMAN; ENSEMBL ID: ENSG00000065717; HGNC ID: 11838 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TLE2|7089|nucleotide
ATGGTGCAATCACGGCTCACTGCAACCTCCGCCTCCCAAGATTCTCCTGCTTCAGGATTACAGACCCCGCTCCAGTCCGGCCAGCCCTTCAAGTTCTCGATCTTG
GAGATCTGCGACCGCATCAAAGAAGAATTCCAGTTTCTTCAGGCTCAATACCACAGCCTCAAGCTAGAATGTGAGAAGCTGGCCAGCGAGAAGACGGAAATGCAG
CGACATTATGTCATGTATTATGAGATGTCGTACGGGCTCAACATTGAAATGCATAAGCAGGCGGAGATTGTGAAGCGTCTGAGCGGTATCTGCGCTCAGATTATC
CCCTTCCTGACCCAGGAGCATCAGCAGCAGGTGCTCCAGGCCGTAGAACGCGCCAAGCAGGTCACCGTGGGGGAGCTGAACAGCCTCATCGGGCAGCAGCAGCTC
CAGCCGCTGTCCCACCACGCACCCCCTGTGCCCCTCACCCCCCGCCCAGCCGGGCTGGTGGGCGGCAGTGCTACGGGGCTGCTTGCTCTGTCTGGAGCCCTGGCT
GCCCAGGCTCAGCTGGCGGCGGCTGTCAAGGAGGACCGTGCGGGCGTGGAGGCCGAGGGGTCCAGAGTGGAGAGAGCCCCGAGCAGGAGTGCATCTCCCTCGCCC
CCTGAGAGTCTCGTGGAGGAGGAGCGACCGAGTGGCCCTGGTGGTGGCGGGAAGCAGAGAGCAGATGAGAAGGAGCCATCAGGACCTTATGAAAGCGACGAAGAC
AAGAGTGATTACAATCTGGTGGTGGACGAGGACCAACCCTCAGAGCCCCCCAGCCCGGCTACCACCCCCTGCGGAAAGGTACCCATCTGCATTCCTGCCCGTCGG
GACCTGGTGGACAGTCCAGCCTCCTTGGCCTCTAGCCTTGGCTCACCGCTGCCTAGAGCCAAGGAGCTCATCCTGAATGACCTTCCCGCCAGCACTCCTGCCTCC
AAATCCTGTGACTCCTCCCCGCCCCAGGACGCTTCCACCCCCGGGCCCAGCTCGGCCAGTCACCTCTGCCAGCTTGCTGCCAAGCCAGCACCTTCCACGGACAGC
GTCGCCCTGAGGAGCCCCCTGACTCTGTCCAGTCCCTTCACCACGTCCTTCAGCCTGGGCTCCCACAGCACTCTCAACGGAGACCTCTCCGTGCCCAGCTCCTAC
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ATGGTGCAATCACGGCTCACTGCAACCTCCGCCTCCCAAGATTCTCCTGCTTCAGGATTACAGACCCCGCTCCAGTCCGGCCAGCCCTTCAAGTTCTCGATCTTG
GAGATCTGCGACCGCATCAAAGAAGAATTCCAGTTTCTTCAGGCTCAATACCACAGCCTCAAGCTAGAATGTGAGAAGCTGGCCAGCGAGAAGACGGAAATGCAG
CGACATTATGTCATGTATTATGAGATGTCGTACGGGCTCAACATTGAAATGCATAAGCAGGCGGAGATTGTGAAGCGTCTGAGCGGTATCTGCGCTCAGATTATC
CCCTTCCTGACCCAGGAGCATCAGCAGCAGGTGCTCCAGGCCGTAGAACGCGCCAAGCAGGTCACCGTGGGGGAGCTGAACAGCCTCATCGGGCAGCAGCAGCTC
CAGCCGCTGTCCCACCACGCACCCCCTGTGCCCCTCACCCCCCGCCCAGCCGGGCTGGTGGGCGGCAGTGCTACGGGGCTGCTTGCTCTGTCTGGAGCCCTGGCT
GCCCAGGCTCAGCTGGCGGCGGCTGTCAAGGAGGACCGTGCGGGCGTGGAGGCCGAGGGGTCCAGAGTGGAGAGAGCCCCGAGCAGGAGTGCATCTCCCTCGCCC
CCTGAGAGTCTCGTGGAGGAGGAGCGACCGAGTGGCCCTGGTGGTGGCGGGAAGCAGAGAGCAGATGAGAAGGAGCCATCAGGACCTTATGAAAGCGACGAAGAC
AAGAGTGATTACAATCTGGTGGTGGACGAGGACCAACCCTCAGAGCCCCCCAGCCCGGCTACCACCCCCTGCGGAAAGGTACCCATCTGCATTCCTGCCCGTCGG
GACCTGGTGGACAGTCCAGCCTCCTTGGCCTCTAGCCTTGGCTCACCGCTGCCTAGAGCCAAGGAGCTCATCCTGAATGACCTTCCCGCCAGCACTCCTGCCTCC
AAATCCTGTGACTCCTCCCCGCCCCAGGACGCTTCCACCCCCGGGCCCAGCTCGGCCAGTCACCTCTGCCAGCTTGCTGCCAAGCCAGCACCTTCCACGGACAGC
GTCGCCCTGAGGAGCCCCCTGACTCTGTCCAGTCCCTTCACCACGTCCTTCAGCCTGGGCTCCCACAGCACTCTCAACGGAGACCTCTCCGTGCCCAGCTCCTAC
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>TLE2|7089|protein
MVQSRLTATSASQDSPASGLQTPLQSGQPFKFSILEICDRIKEEFQFLQAQYHSLKLECEKLASEKTEMQRHYVMYYEMSYGLNIEMHKQAEIVKRLSGICAQII
PFLTQEHQQQVLQAVERAKQVTVGELNSLIGQQQLQPLSHHAPPVPLTPRPAGLVGGSATGLLALSGALAAQAQLAAAVKEDRAGVEAEGSRVERAPSRSASPSP
PESLVEEERPSGPGGGGKQRADEKEPSGPYESDEDKSDYNLVVDEDQPSEPPSPATTPCGKVPICIPARRDLVDSPASLASSLGSPLPRAKELILNDLPASTPAS
KSCDSSPPQDASTPGPSSASHLCQLAAKPAPSTDSVALRSPLTLSSPFTTSFSLGSHSTLNGDLSVPSSYVSLHLSPQVSSSVVYGRSPVMAFESHPHLRGSSVS
SSLPSIPGGKPAYSFHVSADGQMQPVPFPSDALVGAGIPRHARQLHTLAHGEVVCAVTISGSTQHVYTGGKGCVKVWDVGQPGAKTPVAQLDCLNRDNYIRSCKL
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MVQSRLTATSASQDSPASGLQTPLQSGQPFKFSILEICDRIKEEFQFLQAQYHSLKLECEKLASEKTEMQRHYVMYYEMSYGLNIEMHKQAEIVKRLSGICAQII
PFLTQEHQQQVLQAVERAKQVTVGELNSLIGQQQLQPLSHHAPPVPLTPRPAGLVGGSATGLLALSGALAAQAQLAAAVKEDRAGVEAEGSRVERAPSRSASPSP
PESLVEEERPSGPGGGGKQRADEKEPSGPYESDEDKSDYNLVVDEDQPSEPPSPATTPCGKVPICIPARRDLVDSPASLASSLGSPLPRAKELILNDLPASTPAS
KSCDSSPPQDASTPGPSSASHLCQLAAKPAPSTDSVALRSPLTLSSPFTTSFSLGSHSTLNGDLSVPSSYVSLHLSPQVSSSVVYGRSPVMAFESHPHLRGSSVS
SSLPSIPGGKPAYSFHVSADGQMQPVPFPSDALVGAGIPRHARQLHTLAHGEVVCAVTISGSTQHVYTGGKGCVKVWDVGQPGAKTPVAQLDCLNRDNYIRSCKL
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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 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
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 | ||||||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Schellenberg, 2006 | USA | microsatellite-based genomic screen | autism | 222 | - | 222 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large 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 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
1.03686 | Up | 54.9681 | |||
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Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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