AutismKB 2.0

Evidence Details for TTLL12


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Basic Information Top
Gene Symbol:TTLL12 ( FLJ41795,KIAA0153,dJ526I14.2 )
Gene Full Name: tubulin tyrosine ligase-like family, member 12
Band: 22q13.2
Quick LinksEntrez ID:23170; OMIM: NA; Uniprot ID:TTL12_HUMAN; ENSEMBL ID: ENSG00000100304; HGNC ID: 28974
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTLL12|23170|nucleotide
ATGGAGGCCGAGCGGGGTCCCGAGCGCCGGCCTGCGGAGCGTAGCAGCCCGGGCCAGACGCCGGAGGAGGGCGCGCAGGCCTTGGCCGAGTTCGCGGCGCTGCAC
GGCCCGGCGCTGCGCGCTTCGGGGGTCCCCGAACGTTACTGGGGCCGCCTCCTGCACAAGCTGGAGCACGAGGTTTTCGACGCTGGGGAAGTGTTTGGGATCATG
CAAGTGGAGGAGGTAGAAGAGGAGGAGGACGAGGCAGCCCGGGAGGTGCGGAAGCAGCAGCCCAACCCGGGGAACGAGCTGTGCTACAAGGTCATCGTGACCAGG
GAGAGCGGGCTCCAGGCAGCCCACCCCAACAGCATCTTCCTCATCGACCACGCCTGGACGTGCCGTGTGGAGCACGCGCGCCAGCAGCTGCAGCAGGTGCCCGGG
CTGCTGCACCGCATGGCCAACCTGATGGGCATTGAGTTCCACGGTGAGCTGCCCAGTACAGAGGCTGTGGCCCTGGTGCTGGAGGAGATGTGGAAGTTCAACCAG
ACCTACCAGCTGGCCCATGGGACAGCTGAGGAGAAGATGCCGGTGTGGTATATCATGGACGAGTTCGGTTCGCGGATCCAGCACGCGGACGTGCCCAGCTTCGCC
ACGGCACCCTTCTTCTACATGCCGCAGCAGGTGGCCTACACGCTGCTGTGGCCCCTGAGGGACCTGGACACTGGCGAGGAGGTGACCCGAGACTTTGCCTACGGA
GAGACGGACCCCCTGATCCGGAAGTGCATGCTGCTGCCCTGGGCCCCCACCGACATGCTGGACCTCAGCTCTTGCACACCCGAGCCGCCCGCCGAGCACTACCAG
GCCATTCTGGAGGAAAACAAGGAGAAGCTGCCACTTGACATCAACCCCGTGGTGCACCCCCACGGCCACATCTTCAAGGTCTACACGGACGTGCAGCAGGTGGCC
AGCAGCCTCACCCACCCGCGCTTCACCCTCACCCAGAGTGAGGCGGACGCCGACATCCTCTTCAACTTCTCACACTTCAAGGACTACAGGAAACTCAGCCAGGAG
AGGCCAGGCGTGCTGCTGAACCAGTTCCCCTGCGAGAACCTGCTGACTGTCAAGGACTGCCTGGCCTCCATCGCGCGCCGGGCAGGTGGCCCCGAGGGCCCACCC
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>TTLL12|23170|protein
MEAERGPERRPAERSSPGQTPEEGAQALAEFAALHGPALRASGVPERYWGRLLHKLEHEVFDAGEVFGIMQVEEVEEEEDEAAREVRKQQPNPGNELCYKVIVTR
ESGLQAAHPNSIFLIDHAWTCRVEHARQQLQQVPGLLHRMANLMGIEFHGELPSTEAVALVLEEMWKFNQTYQLAHGTAEEKMPVWYIMDEFGSRIQHADVPSFA
TAPFFYMPQQVAYTLLWPLRDLDTGEEVTRDFAYGETDPLIRKCMLLPWAPTDMLDLSSCTPEPPAEHYQAILEENKEKLPLDINPVVHPHGHIFKVYTDVQQVA
SSLTHPRFTLTQSEADADILFNFSHFKDYRKLSQERPGVLLNQFPCENLLTVKDCLASIARRAGGPEGPPWLPRTFNLRTELPQFVSYFQQRERWGEDNHWICKP
WNLARSLDTHVTKSLHSIIRHRESTPKVVSKYIESPVLFLREDVGKVKFDIRYIVLLRSVRPLRLFVYDVFWLRFSNRAFALNDLDDYEKHFTVMNYDPDVVLKQ
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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 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
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
Linkage Studies Top