AutismKB 2.0

Evidence Details for TTLL1


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Basic Information Top
Gene Symbol:TTLL1 ( C22orf7,HS323M22B )
Gene Full Name: tubulin tyrosine ligase-like family, member 1
Band: 22q13.2
Quick LinksEntrez ID:25809; OMIM: 608955; Uniprot ID:TTLL1_HUMAN; ENSEMBL ID: ENSG00000100271; HGNC ID: 1312
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTLL1|25809|nucleotide
ATGGCAGGGAAAGTAAAATGGGTCACTGATATCGAGAAGTCAGTGCTGATCAATAACTTTGAAAAGAGAGGATGGGTCCAAGTGACAGAAAACGAGGACTGGAAT
TTTTACTGGATGAGTGTGCAAACCATCCGAAATGTGTTCAGCGTTGAAGCTGGATATCGGCTCTCAGATGACCAAATAGTCAACCATTTTCCAAACCACTATGAA
CTGACCCGGAAGGACCTGATGGTGAAGAACATCAAAAGATACAGGAAGGAGCTGGAGAAAGAAGGGAGTCCTCTGGCAGAAAAAGATGAAAATGGAAAATACCTC
TATCTGGACTTTGTTCCAGTCACCTATATGCTGCCCGCTGACTACAACCTGTTTGTAGAGGAGTTCCGGAAGAGCCCGTCCAGCACCTGGATCATGAAGCCTTGT
GGCAAGGCCCAGGGAAAGGGCATCTTCCTTATCAACAAGCTCTCACAGATCAAAAAGTGGTCCCGGGACAGCAAGACATCTTCGTTTGTGTCTCAATCTAATAAG
GAAGCCTACGTGATCTCTCTCTATATTAACAACCCGTTACTAATTGGCGGGAGGAAGTTCGACCTGCGCTTGTACGTTCTGGTGTCCACGTACCGTCCACTGCGC
TGTTACATGTACAAGCTTGGGTTTTGCCGGTTCTGCACAGTGAAATACACCCCGAGTACCAGTGAGCTGGACAACATGTTCGTTCATCTCACCAACGTCGCCATC
CAGAAACACGGGGAGGACTACAACCACATCCATGGGGGCAAGTGGACAGTGAGTAACCTGCGGCTCTACCTGGAGAGCACCCGCGGCAAGGAGGTGACCAGCAAG
CTGTTCGACGAGATCCACTGGATCATCGTGCAGTCCCTGAAGGCTGTGGCGCCGGTGATGAACAATGACAAGCACTGCTTTGAATGCTATGGCTACGACATCATC
ATCGACGACAAGCTGAAGCCCTGGCTGATCGAGGTGAATGCGTCCCCGTCTCTCACGTCCAGCACTGCCAATGACCGAATCCTCAAGTACAACCTGATTAATGAC
ACCCTCAACATCGCCGTCCCGAATGGTGAAATCCCAGACTGCAAATGGAACAAGTCGCCACCTAAGGAAGTCCTCGGCAATTACGAGATTCTGTATGATGAAGAA
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>TTLL1|25809|protein
MAGKVKWVTDIEKSVLINNFEKRGWVQVTENEDWNFYWMSVQTIRNVFSVEAGYRLSDDQIVNHFPNHYELTRKDLMVKNIKRYRKELEKEGSPLAEKDENGKYL
YLDFVPVTYMLPADYNLFVEEFRKSPSSTWIMKPCGKAQGKGIFLINKLSQIKKWSRDSKTSSFVSQSNKEAYVISLYINNPLLIGGRKFDLRLYVLVSTYRPLR
CYMYKLGFCRFCTVKYTPSTSELDNMFVHLTNVAIQKHGEDYNHIHGGKWTVSNLRLYLESTRGKEVTSKLFDEIHWIIVQSLKAVAPVMNNDKHCFECYGYDII
IDDKLKPWLIEVNASPSLTSSTANDRILKYNLINDTLNIAVPNGEIPDCKWNKSPPKEVLGNYEILYDEELAQGDGADRELRSRQGQSLGPRAGRSRDSGRAVLT
TWK
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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) 1 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top