AutismKB 2.0

Evidence Details for TTLL2


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Basic Information Top
Gene Symbol:TTLL2 ( C6orf104,NYD-TSPG,dJ366N23.3 )
Gene Full Name: tubulin tyrosine ligase-like family, member 2
Band: 6q27
Quick LinksEntrez ID:83887; OMIM: NA; Uniprot ID:TTLL2_HUMAN; ENSEMBL ID: ENSG00000120440; HGNC ID: 21211
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTLL2|83887|nucleotide
ATGAGAGGGCGGGACCTGTGTTCCTCCACACAAAGCCAGGCGCTGGGATCTTTGAGAACCACCACCCCAGCCTTTACCCTTAACATTCCATCCGAGGCAAACCAC
ACTGAGCAGCCGCCTGCAGGCCTGGGAGCAAGGCTACAGGAAGCAGGTGTTTCCATCCCTCCCAGGCGAGGCCGCCCAACACCAACACTGGAGAAGAAGAAAAAA
CCTCATTTGATGGCGGAAGATGAACCTTCAGGGGCCCTCTTGAAGCCGCTGGTTTTTCGCGTTGACGAGACCACCCCGGCTGTGGTGCAAAGCGTCCTCCTGGAG
AGGGGGTGGAATAAGTTTGATAAGCAGGAGCAGAACGCGGAGGACTGGAACCTGTACTGGAGGACATCCTCTTTCCGAATGACCGAACACAACAGTGTTAAACCG
TGGCAGCAGCTAAACCACCACCCTGGAACCACCAAGCTTACCAGGAAAGACTGTTTGGCCAAACACCTGAAGCACATGAGGAGGATGTATGGCACTTCCCTGTAC
CAGTTCATCCCCCTGACGTTCGTCATGCCCAATGACTATACCAAGTTCGTGGCTGAATACTTTCAGGAGAGGCAGATGCTGGGCACCAAGCATAGCTATTGGATT
TGCAAGCCTGCTGAGTTATCTCGTGGGAGGGGGATACTAATTTTCAGTGACTTTAAAGACTTCATCTTTGATGATATGTACATAGTGCAGAAATATATCTCCAAT
CCTTTACTTATTGGCAGATATAAATGTGATCTCCGCATCTATGTTTGTGTTACTGGCTTTAAGCCTTTGACCATTTATGTTTATCAGGAAGGGTTGGTTCGGTTT
GCCACGGAAAAGTTTGACCTCAGTAATTTGCAAAACAATTATGCCCATTTGACCAACAGCAGCATCAATAAATCCGGGGCCTCTTATGAGAAGATCAAAGAAGTG
ATTGGTCATGGTTGTAAATGGACGCTCAGCAGATTTTTTTCCTACCTTCGTAGCTGGGATGTGGACGATCTGCTTTTGTGGAAGAAAATCCACCGCATGGTTATT
CTCACCATTCTCGCCATTGCACCATCTGTCCCCTTTGCTGCCAATTGCTTTGAGCTCTTTGGGTTTGATATTTTGATTGATGACAACTTGAAACCATGGCTTTTA
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>TTLL2|83887|protein
MRGRDLCSSTQSQALGSLRTTTPAFTLNIPSEANHTEQPPAGLGARLQEAGVSIPPRRGRPTPTLEKKKKPHLMAEDEPSGALLKPLVFRVDETTPAVVQSVLLE
RGWNKFDKQEQNAEDWNLYWRTSSFRMTEHNSVKPWQQLNHHPGTTKLTRKDCLAKHLKHMRRMYGTSLYQFIPLTFVMPNDYTKFVAEYFQERQMLGTKHSYWI
CKPAELSRGRGILIFSDFKDFIFDDMYIVQKYISNPLLIGRYKCDLRIYVCVTGFKPLTIYVYQEGLVRFATEKFDLSNLQNNYAHLTNSSINKSGASYEKIKEV
IGHGCKWTLSRFFSYLRSWDVDDLLLWKKIHRMVILTILAIAPSVPFAANCFELFGFDILIDDNLKPWLLEVNYSPALTLDCSTDVLVKRKLVHDIIDLIYLNGL
RNEGREASNATHGNSNIDAAKSDRGGLDAPDCLPYDSLSFTSRMYNEDDSVVEKAVSVRPEAAPASQLEGEMSGQDFHLSTREMPQSKPKLRSRHTPHKTLMPYA
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top