Evidence Details for TTBK1
Basic Information Top
| Gene Symbol: | TTBK1 ( BDTK,KIAA1855,RP3-330M21.4 ) |
|---|---|
| Gene Full Name: | tau tubulin kinase 1 |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:84630; OMIM: NA; Uniprot ID:TTBK1_HUMAN; ENSEMBL ID: ENSG00000146216; HGNC ID: 19140 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TTBK1|84630|nucleotide
ATGCAGTGCCTAGCGGCCGCCCTTAAGGACGAAACCAACATGAGTGGGGGAGGGGAGCAGGCCGACATCCTGCCGGCCAACTACGTGGTCAAGGATCGCTGGAAG
GTGCTGAAAAAGATCGGGGGCGGGGGCTTTGGTGAGATCTACGAGGCCATGGACCTGCTGACCAGGGAGAATGTGGCCCTCAAGGTGGAGTCAGCCCAGCAGCCC
AAGCAGGTCCTCAAGATGGAGGTGGCCGTGCTCAAGAAGTTGCAAGGGAAGGACCATGTGTGCAGGTTCATTGGCTGTGGCAGGAACGAGAAGTTTAACTATGTA
GTGATGCAGCTCCAGGGCCGGAACCTGGCCGACCTGCGCCGTAGCCAGCCGCGAGGCACCTTCACGCTGAGCACCACATTGCGGCTGGGCAAGCAGATCTTGGAG
TCCATCGAGGCCATCCACTCTGTGGGCTTCCTGCACCGTGACATCAAGCCTTCAAACTTTGCCATGGGCAGGCTGCCCTCCACCTACAGGAAGTGCTATATGCTG
GACTTCGGGCTGGCCCGGCAGTACACCAACACCACGGGGGATGTGCGGCCCCCTCGGAATGTGGCCGGGTTTCGAGGAACGGTTCGCTATGCCTCAGTCAATGCC
CACAAGAACCGGGAGATGGGCCGCCACGACGACCTGTGGTCCCTCTTCTACATGCTGGTGGAGTTTGCAGTGGGCCAGCTGCCCTGGAGGAAGATCAAGGACAAG
GAACAGGTAGGGATGATCAAGGAGAAGTATGAGCACCGGATGCTGCTGAAGCACATGCCGTCAGAGTTCCACCTCTTCCTGGACCACATTGCCAGCCTCGACTAC
TTCACCAAGCCCGACTACCAGTTGATCATGTCAGTGTTTGAGAACAGCATGAAGGAGAGGGGCATTGCCGAGAATGAGGCCTTTGACTGGGAGAAGGCAGGCACC
GATGCCCTCCTGTCCACGAGCACCTCTACCCCGCCCCAGCAGAACACCCGGCAGACGGCAGCCATGTTTGGGGTGGTCAATGTGACGCCAGTGCCTGGGGACCTG
CTCCGGGAGAACACCGAGGATGTGCTACAGGGAGAGCACCTGAGTGACCAGGAGAATGCACCCCCAATTCTGCCCGGGAGGCCCTCTGAGGGGCTGGGCCCCAGT
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ATGCAGTGCCTAGCGGCCGCCCTTAAGGACGAAACCAACATGAGTGGGGGAGGGGAGCAGGCCGACATCCTGCCGGCCAACTACGTGGTCAAGGATCGCTGGAAG
GTGCTGAAAAAGATCGGGGGCGGGGGCTTTGGTGAGATCTACGAGGCCATGGACCTGCTGACCAGGGAGAATGTGGCCCTCAAGGTGGAGTCAGCCCAGCAGCCC
AAGCAGGTCCTCAAGATGGAGGTGGCCGTGCTCAAGAAGTTGCAAGGGAAGGACCATGTGTGCAGGTTCATTGGCTGTGGCAGGAACGAGAAGTTTAACTATGTA
GTGATGCAGCTCCAGGGCCGGAACCTGGCCGACCTGCGCCGTAGCCAGCCGCGAGGCACCTTCACGCTGAGCACCACATTGCGGCTGGGCAAGCAGATCTTGGAG
TCCATCGAGGCCATCCACTCTGTGGGCTTCCTGCACCGTGACATCAAGCCTTCAAACTTTGCCATGGGCAGGCTGCCCTCCACCTACAGGAAGTGCTATATGCTG
GACTTCGGGCTGGCCCGGCAGTACACCAACACCACGGGGGATGTGCGGCCCCCTCGGAATGTGGCCGGGTTTCGAGGAACGGTTCGCTATGCCTCAGTCAATGCC
CACAAGAACCGGGAGATGGGCCGCCACGACGACCTGTGGTCCCTCTTCTACATGCTGGTGGAGTTTGCAGTGGGCCAGCTGCCCTGGAGGAAGATCAAGGACAAG
GAACAGGTAGGGATGATCAAGGAGAAGTATGAGCACCGGATGCTGCTGAAGCACATGCCGTCAGAGTTCCACCTCTTCCTGGACCACATTGCCAGCCTCGACTAC
TTCACCAAGCCCGACTACCAGTTGATCATGTCAGTGTTTGAGAACAGCATGAAGGAGAGGGGCATTGCCGAGAATGAGGCCTTTGACTGGGAGAAGGCAGGCACC
GATGCCCTCCTGTCCACGAGCACCTCTACCCCGCCCCAGCAGAACACCCGGCAGACGGCAGCCATGTTTGGGGTGGTCAATGTGACGCCAGTGCCTGGGGACCTG
CTCCGGGAGAACACCGAGGATGTGCTACAGGGAGAGCACCTGAGTGACCAGGAGAATGCACCCCCAATTCTGCCCGGGAGGCCCTCTGAGGGGCTGGGCCCCAGT
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>TTBK1|84630|protein
MQCLAAALKDETNMSGGGEQADILPANYVVKDRWKVLKKIGGGGFGEIYEAMDLLTRENVALKVESAQQPKQVLKMEVAVLKKLQGKDHVCRFIGCGRNEKFNYV
VMQLQGRNLADLRRSQPRGTFTLSTTLRLGKQILESIEAIHSVGFLHRDIKPSNFAMGRLPSTYRKCYMLDFGLARQYTNTTGDVRPPRNVAGFRGTVRYASVNA
HKNREMGRHDDLWSLFYMLVEFAVGQLPWRKIKDKEQVGMIKEKYEHRMLLKHMPSEFHLFLDHIASLDYFTKPDYQLIMSVFENSMKERGIAENEAFDWEKAGT
DALLSTSTSTPPQQNTRQTAAMFGVVNVTPVPGDLLRENTEDVLQGEHLSDQENAPPILPGRPSEGLGPSPHLVPHPGGPEAEVWEETDVNRNKLRINIGKSPCV
EEEQSRGMGVPSSPVRAPPDSPTTPVRSLRYRRVNSPESERLSTADGRVELPERRSRMDLPGSPSRQACSSQPAQMLSVDTGHADRQASGRMDVSASVEQEALSN
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MQCLAAALKDETNMSGGGEQADILPANYVVKDRWKVLKKIGGGGFGEIYEAMDLLTRENVALKVESAQQPKQVLKMEVAVLKKLQGKDHVCRFIGCGRNEKFNYV
VMQLQGRNLADLRRSQPRGTFTLSTTLRLGKQILESIEAIHSVGFLHRDIKPSNFAMGRLPSTYRKCYMLDFGLARQYTNTTGDVRPPRNVAGFRGTVRYASVNA
HKNREMGRHDDLWSLFYMLVEFAVGQLPWRKIKDKEQVGMIKEKYEHRMLLKHMPSEFHLFLDHIASLDYFTKPDYQLIMSVFENSMKERGIAENEAFDWEKAGT
DALLSTSTSTPPQQNTRQTAAMFGVVNVTPVPGDLLRENTEDVLQGEHLSDQENAPPILPGRPSEGLGPSPHLVPHPGGPEAEVWEETDVNRNKLRINIGKSPCV
EEEQSRGMGVPSSPVRAPPDSPTTPVRSLRYRRVNSPESERLSTADGRVELPERRSRMDLPGSPSRQACSSQPAQMLSVDTGHADRQASGRMDVSASVEQEALSN
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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 | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow 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.