Evidence Details for TIGD2
Basic Information Top
| Gene Symbol: | TIGD2 ( DKFZp667D1322 ) |
|---|---|
| Gene Full Name: | tigger transposable element derived 2 |
| Band: | 4q22.1 |
| Quick Links | Entrez ID:166815; OMIM: 612973; Uniprot ID:TIGD2_HUMAN; ENSEMBL ID: ENSG00000180346; HGNC ID: 18333 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TIGD2|166815|nucleotide
ATGTTGGGGAAACGTAAGCGTGTGGTGTTGACAATTAAGGACAAGCTTGACATTATTAAGAAACTTGAGGAAGGCATCTCTTTCAAAAAACTTTCCGTGGTGTAC
GGAATTGGTGAATCCACAGTTCGTGATATTAAAAAGAACAAAGAAAGGATTATAAACTATGCAAACAGTTCAGATCCTACCAGTGGAGTATCCAAACGTAAATCT
ATGAAGTCATCAACATACGAGGAGCTTGATAGAGTTATGATAGAGTGGTTTAACCAACAGAAAACAGATGGGATTCCAGTGTCCGGAACGATTTGTGCAAAACAA
GCCAAGTTCTTTTTTGATGCTTTGGGAATGGAAGGTGATTTTAATGCATCGTCAGGCTGGCTAACTCGATTTAAGCAGCGCCATGGTATTCCAAAGGCTGCTGGT
AAAGGAACAAAATTAAAAGGAGATGAAACTGCTGCCAGAGAATTTTGTGGTAGCTTTCAGGAATTTGTTGAAAAAGAGAATCTACAACCAGAGCAAATTTATGGT
GCTGATCAAACTGGATTGTTTTGGAAATGTCTACCATCAAGGACATTAACTCTTGAAACTGACCAAAGTACTTCTGGGTGTAGGTCAAGCAGAGAGAGAATCATC
ATTATGTGTTGCGCAAATGCCACAGGTTTACACAAACTTAATCTTTGTGTTGTGGGGAAGGCCAAAAAGCCCCGAGCATTCAAAGGCACTGACCTTTCAAACCTT
CCTGTGACATATTACAGTCAAAAAGGTGCATGGATAGAACAGTCTGTTTTCAGACAGTGGTTTGAAAAGTACTTTGTGCCACAGGTACAGAAGCATTTGAAATCC
AAGGGACTTTTAGAAAAAGCAGTGCTTCTTTTAGATTTCCCCCCAGCACGTCCAAATGAAGAAATGTTGAGTTCAGATGATGGCAGAATAATTGTGAAGTATTTG
CCACCAAATGTCACAAGTCTGATTCAACCAATGAGCCAGGGAGTTCTAGCCACTGTAAAAAGATACTATCGAGCAGGACTTCTCCAGAAATACATGGATGAAGGA
AATGACCCAAAAATATTTTGGAAGAACTTGACAGTGTTGGATGCAATTTATGAAGTGTCAAGAGCTTGGAACATGGTAAAATCAAGTACCATAACCAAAGCATGG
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ATGTTGGGGAAACGTAAGCGTGTGGTGTTGACAATTAAGGACAAGCTTGACATTATTAAGAAACTTGAGGAAGGCATCTCTTTCAAAAAACTTTCCGTGGTGTAC
GGAATTGGTGAATCCACAGTTCGTGATATTAAAAAGAACAAAGAAAGGATTATAAACTATGCAAACAGTTCAGATCCTACCAGTGGAGTATCCAAACGTAAATCT
ATGAAGTCATCAACATACGAGGAGCTTGATAGAGTTATGATAGAGTGGTTTAACCAACAGAAAACAGATGGGATTCCAGTGTCCGGAACGATTTGTGCAAAACAA
GCCAAGTTCTTTTTTGATGCTTTGGGAATGGAAGGTGATTTTAATGCATCGTCAGGCTGGCTAACTCGATTTAAGCAGCGCCATGGTATTCCAAAGGCTGCTGGT
AAAGGAACAAAATTAAAAGGAGATGAAACTGCTGCCAGAGAATTTTGTGGTAGCTTTCAGGAATTTGTTGAAAAAGAGAATCTACAACCAGAGCAAATTTATGGT
GCTGATCAAACTGGATTGTTTTGGAAATGTCTACCATCAAGGACATTAACTCTTGAAACTGACCAAAGTACTTCTGGGTGTAGGTCAAGCAGAGAGAGAATCATC
ATTATGTGTTGCGCAAATGCCACAGGTTTACACAAACTTAATCTTTGTGTTGTGGGGAAGGCCAAAAAGCCCCGAGCATTCAAAGGCACTGACCTTTCAAACCTT
CCTGTGACATATTACAGTCAAAAAGGTGCATGGATAGAACAGTCTGTTTTCAGACAGTGGTTTGAAAAGTACTTTGTGCCACAGGTACAGAAGCATTTGAAATCC
AAGGGACTTTTAGAAAAAGCAGTGCTTCTTTTAGATTTCCCCCCAGCACGTCCAAATGAAGAAATGTTGAGTTCAGATGATGGCAGAATAATTGTGAAGTATTTG
CCACCAAATGTCACAAGTCTGATTCAACCAATGAGCCAGGGAGTTCTAGCCACTGTAAAAAGATACTATCGAGCAGGACTTCTCCAGAAATACATGGATGAAGGA
AATGACCCAAAAATATTTTGGAAGAACTTGACAGTGTTGGATGCAATTTATGAAGTGTCAAGAGCTTGGAACATGGTAAAATCAAGTACCATAACCAAAGCATGG
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>TIGD2|166815|protein
MLGKRKRVVLTIKDKLDIIKKLEEGISFKKLSVVYGIGESTVRDIKKNKERIINYANSSDPTSGVSKRKSMKSSTYEELDRVMIEWFNQQKTDGIPVSGTICAKQ
AKFFFDALGMEGDFNASSGWLTRFKQRHGIPKAAGKGTKLKGDETAAREFCGSFQEFVEKENLQPEQIYGADQTGLFWKCLPSRTLTLETDQSTSGCRSSRERII
IMCCANATGLHKLNLCVVGKAKKPRAFKGTDLSNLPVTYYSQKGAWIEQSVFRQWFEKYFVPQVQKHLKSKGLLEKAVLLLDFPPARPNEEMLSSDDGRIIVKYL
PPNVTSLIQPMSQGVLATVKRYYRAGLLQKYMDEGNDPKIFWKNLTVLDAIYEVSRAWNMVKSSTITKAWKKLFPGNEENSGMNIDEGAILAANLATVLQNTEEC
EHVDIENIDQWFDSRSSDSSCQVLTDSESAEDQTKAAEQKPSSKSRKTELNPEKHISHKAALEWTENLLDYLEQQDDMLLSDKLVLRRLRTIIRKKQKIQNNKNH
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MLGKRKRVVLTIKDKLDIIKKLEEGISFKKLSVVYGIGESTVRDIKKNKERIINYANSSDPTSGVSKRKSMKSSTYEELDRVMIEWFNQQKTDGIPVSGTICAKQ
AKFFFDALGMEGDFNASSGWLTRFKQRHGIPKAAGKGTKLKGDETAAREFCGSFQEFVEKENLQPEQIYGADQTGLFWKCLPSRTLTLETDQSTSGCRSSRERII
IMCCANATGLHKLNLCVVGKAKKPRAFKGTDLSNLPVTYYSQKGAWIEQSVFRQWFEKYFVPQVQKHLKSKGLLEKAVLLLDFPPARPNEEMLSSDDGRIIVKYL
PPNVTSLIQPMSQGVLATVKRYYRAGLLQKYMDEGNDPKIFWKNLTVLDAIYEVSRAWNMVKSSTITKAWKKLFPGNEENSGMNIDEGAILAANLATVLQNTEEC
EHVDIENIDQWFDSRSSDSSCQVLTDSESAEDQTKAAEQKPSSKSRKTELNPEKHISHKAALEWTENLLDYLEQQDDMLLSDKLVLRRLRTIIRKKQKIQNNKNH
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Evidence summary Top
Click 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 (1) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ![]() | ![]() | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH | ![]() | ![]() | ASD | - | - | - | - | 29 | - | 29 |
Linkage 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 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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