Evidence Details for TTI1
Basic Information Top
| Gene Symbol: | TTI1 ( KIAA0406 ) |
|---|---|
| Gene Full Name: | Tel2 interacting protein 1 homolog (S. pombe) |
| Band: | 20q11.23 |
| Quick Links | Entrez ID:9675; OMIM: NA; Uniprot ID:TTI1_HUMAN; ENSEMBL ID: ENSG00000101407; HGNC ID: 29029 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TTI1|9675|nucleotide
ATGGCAGTTTTTGATACTCCTGAGGAGGCCTTTGGTGTCTTACGTCCAGTCTGTGTTCAGCTCACAAAGACCCAGACAGTGGAGAATGTGGAGCATCTGCAGACA
CGACTACAAGCTGTGAGTGACAGTGCCCTTCAGGAACTTCAGCAGTACATCCTCTTCCCTCTGCGATTTACCCTGAAGACCCCAGGTCCCAAAAGAGAGCGTTTG
ATCCAAAGTGTGGTGGAATGCCTCACATTTGTCCTTTCTTCAACATGTGTGAAAGAACAGGAGCTTCTCCAGGAACTCTTTTCAGAACTCTCTGCTTGTCTGTAT
TCACCCAGCTCCCAAAAACCTGCGGCTGTGTCCGAGGAGTTGAAATTGGCTGTGATCCAGGGACTTAGCACATTAATGCACTCAGCTTATGGGGACATCATTCTG
ACTTTTTATGAGCCCTCCATTCTGCCACGTTTAGGATTTGCTGTATCTTTACTGTTAGGCCTTGCAGAACAGGAGAAATCAAAGCAAATTAAAATTGCTGCCTTA
AAATGTTTACAGGTTCTACTCTTGCAGTGTGATTGTCAGGACCATCCAAGGTCATTGGATGAACTTGAACAAAAGCAGCTGGGGGATTTGTTTGCCTCTTTTTTA
CCTGGAATCTCAACTGCACTGACCAGGCTTATCACAGGAGACTTTAAACAAGGTCACAGCATTGTCGTATCTTCCCTAAAGATCTTTTACAAGACAGTGAGCTTC
ATTATGGCTGATGAACAGCTCAAAAGAATCTCAAAGGTCCAAGCAAAACCTGCAGTTGAGCACAGAGTAGCAGAGCTGATGGTTTACAGGGAAGCAGATTGGGTA
AAAAAGACTGGCGACAAGTTGACTATCCTTATTAAAAAGATAATTGAGTGTGTTTCTGTTCACCCACACTGGAAGGTGAGACTGGAACTGGTAGAACTTGTGGAG
GACCTTCTTTTGAAGTGCAGTCAATCATTGGTCGAATGTGCTGGTCCCCTTCTGAAGGCCTTAGTGGGACTAGTAAATGATGAGAGTCCTGAAATCCAAGCCCAG
TGCAATAAAGTTCTGAGACATTTTGCAGATCAAAAAGTAGTGGTGGGCAACAAAGCCCTCGCTGACATCTTGTCAGAAAGCCTGCATTCCCTTGCCACATCTCTT
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ATGGCAGTTTTTGATACTCCTGAGGAGGCCTTTGGTGTCTTACGTCCAGTCTGTGTTCAGCTCACAAAGACCCAGACAGTGGAGAATGTGGAGCATCTGCAGACA
CGACTACAAGCTGTGAGTGACAGTGCCCTTCAGGAACTTCAGCAGTACATCCTCTTCCCTCTGCGATTTACCCTGAAGACCCCAGGTCCCAAAAGAGAGCGTTTG
ATCCAAAGTGTGGTGGAATGCCTCACATTTGTCCTTTCTTCAACATGTGTGAAAGAACAGGAGCTTCTCCAGGAACTCTTTTCAGAACTCTCTGCTTGTCTGTAT
TCACCCAGCTCCCAAAAACCTGCGGCTGTGTCCGAGGAGTTGAAATTGGCTGTGATCCAGGGACTTAGCACATTAATGCACTCAGCTTATGGGGACATCATTCTG
ACTTTTTATGAGCCCTCCATTCTGCCACGTTTAGGATTTGCTGTATCTTTACTGTTAGGCCTTGCAGAACAGGAGAAATCAAAGCAAATTAAAATTGCTGCCTTA
AAATGTTTACAGGTTCTACTCTTGCAGTGTGATTGTCAGGACCATCCAAGGTCATTGGATGAACTTGAACAAAAGCAGCTGGGGGATTTGTTTGCCTCTTTTTTA
CCTGGAATCTCAACTGCACTGACCAGGCTTATCACAGGAGACTTTAAACAAGGTCACAGCATTGTCGTATCTTCCCTAAAGATCTTTTACAAGACAGTGAGCTTC
ATTATGGCTGATGAACAGCTCAAAAGAATCTCAAAGGTCCAAGCAAAACCTGCAGTTGAGCACAGAGTAGCAGAGCTGATGGTTTACAGGGAAGCAGATTGGGTA
AAAAAGACTGGCGACAAGTTGACTATCCTTATTAAAAAGATAATTGAGTGTGTTTCTGTTCACCCACACTGGAAGGTGAGACTGGAACTGGTAGAACTTGTGGAG
GACCTTCTTTTGAAGTGCAGTCAATCATTGGTCGAATGTGCTGGTCCCCTTCTGAAGGCCTTAGTGGGACTAGTAAATGATGAGAGTCCTGAAATCCAAGCCCAG
TGCAATAAAGTTCTGAGACATTTTGCAGATCAAAAAGTAGTGGTGGGCAACAAAGCCCTCGCTGACATCTTGTCAGAAAGCCTGCATTCCCTTGCCACATCTCTT
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>TTI1|9675|protein
MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTLKTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLY
SPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFL
PGISTALTRLITGDFKQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSVHPHWKVRLELVELVE
DLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLN
SVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMI
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MAVFDTPEEAFGVLRPVCVQLTKTQTVENVEHLQTRLQAVSDSALQELQQYILFPLRFTLKTPGPKRERLIQSVVECLTFVLSSTCVKEQELLQELFSELSACLY
SPSSQKPAAVSEELKLAVIQGLSTLMHSAYGDIILTFYEPSILPRLGFAVSLLLGLAEQEKSKQIKIAALKCLQVLLLQCDCQDHPRSLDELEQKQLGDLFASFL
PGISTALTRLITGDFKQGHSIVVSSLKIFYKTVSFIMADEQLKRISKVQAKPAVEHRVAELMVYREADWVKKTGDKLTILIKKIIECVSVHPHWKVRLELVELVE
DLLLKCSQSLVECAGPLLKALVGLVNDESPEIQAQCNKVLRHFADQKVVVGNKALADILSESLHSLATSLPRLMNSQDDQGKFSTLSLLLGYLKLLGPKINFVLN
SVAHLQRLSKALIQVLELDVADIKIVEERRWNSDDLNASPKTSATQPWNRIQRRYFRFFTDERIFMLLRQVCQLLGYYGNLYLLVDHFMELYHQSVVYRKQAAMI
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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 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) | | | AS | - (3-21) |
- >70 | ||
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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.