Evidence Details for TEKT1
Basic Information Top
| Gene Symbol: | TEKT1 ( - ) |
|---|---|
| Gene Full Name: | tektin 1 |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:83659; OMIM: 609002; Uniprot ID:TEKT1_HUMAN; ENSEMBL ID: ENSG00000167858; HGNC ID: 15534 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TEKT1|83659|nucleotide
ATGGCTAAACTATTACAACCTCCACCCAAGTTCCTGCCCTCAGAGTGGCACATTGCTAACAAGAACCAGTACCACAGAGCAGACGCTCAAAGGTCCCGATCAGAA
CGCCTGGTCGCAGAAAGCCAGAGGCTTGTGGATGAAATTGAAAAGACCACAAGAAAATCTCAAAGCGATGTGAACAAGAAACTAGAACAGAGACTCGAGGAAGTC
CAGTTCTGGAAGAAGGAGTTAGATGACAAACTTGAGCAGCTTGTGAATGTAACTGATGATCTACTCATATATAAGATCAGATTGGAAAAAGCCCTGGAGACCTTG
AAAGAGCCCTTGCACATCACTGAGACATGCCTGGCATACAGGGAGAAGCGCATTGGCATTGACCTGGTGCACGACACAGTGGAGCATGAGCTGATAAAGGAGGCT
GAGATCATCCAGGGCATTATGGCTCTGCTGACCCGTACCTTGGAGGAGGCTTCCGAGCAGATTCGGATGAACCGCTCTGCCAAGTACAATCTTGAGAAGGATTTG
AAGGACAAGTTTGTGGCCCTGACCATAGATGATATCTGCTTCTCGCTCAACAACAACTCACCAAACATCAGATATTCTGAGAACGCCGTGAGGATTGAGCCAAAC
TCCGTGAGTCTGGAAGACTGGTTGGACTTCTCCAGCACCAATGTGGAGAAGGCTGACAAGCAGCGGAACAACTCCCTGATGCTGAAAGCCCTGGTGGATCGAATC
CTGTCCCAGACAGCCAATGATCTGCGCAAGCAGTGTGATGTGGTGGACACGGCATTCAAGAATGGGCTGAAGGATACAAAGGATGCCAGGGACAAGCTGGCTGAT
CATCTGGCCAAGGTCATGGAAGAGATTGCTTCCCAGGAGAAAAATATTACAGCTCTTGAAAAGGCCATCCTTGACCAAGAAGGGCCAGCCAAGGTGGCTCATACG
CGCTTGGAGACCAGGACACACCGGCCGAACGTGGAGCTGTGTCGTGATGTCGCACAATATAGGCTAATGAAGGAGGTTCAAGAGATCACCCACAATGTCGCAAGA
TTGAAGGAAACTTTAGCCCAAGCTCAGGCAGAGCTGAAAGGGCTGCATCGCAGACAGCTTGCCCTGCAGGAGGAGATCCAGGTCAAAGAGAACACCATTTATATC
Show »
ATGGCTAAACTATTACAACCTCCACCCAAGTTCCTGCCCTCAGAGTGGCACATTGCTAACAAGAACCAGTACCACAGAGCAGACGCTCAAAGGTCCCGATCAGAA
CGCCTGGTCGCAGAAAGCCAGAGGCTTGTGGATGAAATTGAAAAGACCACAAGAAAATCTCAAAGCGATGTGAACAAGAAACTAGAACAGAGACTCGAGGAAGTC
CAGTTCTGGAAGAAGGAGTTAGATGACAAACTTGAGCAGCTTGTGAATGTAACTGATGATCTACTCATATATAAGATCAGATTGGAAAAAGCCCTGGAGACCTTG
AAAGAGCCCTTGCACATCACTGAGACATGCCTGGCATACAGGGAGAAGCGCATTGGCATTGACCTGGTGCACGACACAGTGGAGCATGAGCTGATAAAGGAGGCT
GAGATCATCCAGGGCATTATGGCTCTGCTGACCCGTACCTTGGAGGAGGCTTCCGAGCAGATTCGGATGAACCGCTCTGCCAAGTACAATCTTGAGAAGGATTTG
AAGGACAAGTTTGTGGCCCTGACCATAGATGATATCTGCTTCTCGCTCAACAACAACTCACCAAACATCAGATATTCTGAGAACGCCGTGAGGATTGAGCCAAAC
TCCGTGAGTCTGGAAGACTGGTTGGACTTCTCCAGCACCAATGTGGAGAAGGCTGACAAGCAGCGGAACAACTCCCTGATGCTGAAAGCCCTGGTGGATCGAATC
CTGTCCCAGACAGCCAATGATCTGCGCAAGCAGTGTGATGTGGTGGACACGGCATTCAAGAATGGGCTGAAGGATACAAAGGATGCCAGGGACAAGCTGGCTGAT
CATCTGGCCAAGGTCATGGAAGAGATTGCTTCCCAGGAGAAAAATATTACAGCTCTTGAAAAGGCCATCCTTGACCAAGAAGGGCCAGCCAAGGTGGCTCATACG
CGCTTGGAGACCAGGACACACCGGCCGAACGTGGAGCTGTGTCGTGATGTCGCACAATATAGGCTAATGAAGGAGGTTCAAGAGATCACCCACAATGTCGCAAGA
TTGAAGGAAACTTTAGCCCAAGCTCAGGCAGAGCTGAAAGGGCTGCATCGCAGACAGCTTGCCCTGCAGGAGGAGATCCAGGTCAAAGAGAACACCATTTATATC
Show »
>TEKT1|83659|protein
MAKLLQPPPKFLPSEWHIANKNQYHRADAQRSRSERLVAESQRLVDEIEKTTRKSQSDVNKKLEQRLEEVQFWKKELDDKLEQLVNVTDDLLIYKIRLEKALETL
KEPLHITETCLAYREKRIGIDLVHDTVEHELIKEAEIIQGIMALLTRTLEEASEQIRMNRSAKYNLEKDLKDKFVALTIDDICFSLNNNSPNIRYSENAVRIEPN
SVSLEDWLDFSSTNVEKADKQRNNSLMLKALVDRILSQTANDLRKQCDVVDTAFKNGLKDTKDARDKLADHLAKVMEEIASQEKNITALEKAILDQEGPAKVAHT
RLETRTHRPNVELCRDVAQYRLMKEVQEITHNVARLKETLAQAQAELKGLHRRQLALQEEIQVKENTIYIDEVLCMQMRKSIPLRDGEDHGVWAGGLRPDAVC
Show »
MAKLLQPPPKFLPSEWHIANKNQYHRADAQRSRSERLVAESQRLVDEIEKTTRKSQSDVNKKLEQRLEEVQFWKKELDDKLEQLVNVTDDLLIYKIRLEKALETL
KEPLHITETCLAYREKRIGIDLVHDTVEHELIKEAEIIQGIMALLTRTLEEASEQIRMNRSAKYNLEKDLKDKFVALTIDDICFSLNNNSPNIRYSENAVRIEPN
SVSLEDWLDFSSTNVEKADKQRNNSLMLKALVDRILSQTANDLRKQCDVVDTAFKNGLKDTKDARDKLADHLAKVMEEIASQEKNITALEKAILDQEGPAKVAHT
RLETRTHRPNVELCRDVAQYRLMKEVQEITHNVARLKETLAQAQAELKGLHRRQLALQEEIQVKENTIYIDEVLCMQMRKSIPLRDGEDHGVWAGGLRPDAVC
Show »
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 (0) | 0 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top