AutismKB 2.0

Evidence Details for TTLL9


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Basic Information Top
Gene Symbol:TTLL9 ( C20orf125,MGC120486,MGC120487,dJ310O13.1 )
Gene Full Name: tubulin tyrosine ligase-like family, member 9
Band: 20q11
Quick LinksEntrez ID:164395; OMIM: NA; Uniprot ID:TTLL9_HUMAN; ENSEMBL ID: ENSG00000131044; HGNC ID: 16118
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTLL9|164395|nucleotide
ATGGTGCCATCCAGGGAAGCTCTGCTGGGACCAGGCACAACTGCCATTAGGTGCCCCAAGAAATTACAGAACCAAAATTACAAGGGCCATGGATTGTCAAAGGGA
AAAGAGCGAGAGCAGAGAGCATCGATCCGGTTCAAGACCACCCTCATGAACACACTCATGGACGTCCTTCGCCACAGGCCAGGATGGGTGGAAGTGAAGGACGAA
GGGGAGTGGGATTTCTACTGGTGTGACGTCAGCTGGCTCCGGGAGAACTTCGACCACACCTACATGGATGAACATGTGCGGATCAGTCACTTCCGGAACCACTAT
GAGCTGACCCGGAAGAACTACATGGTGAAGAACCTGAAGCGGTTCCGGAAGCAGCTGGAGCGTGAGGCAGGAAAGCTGGAGGCAGCCAAGTGTGACTTCTTCCCC
AAAACCTTTGAGATGCCTTGCGAGTACCACCTGTTTGTAGAGGAGTTTCGCAAAAACCCAGGAATCACCTGGATCATGAAGCCTGTAGCCCGGTCTCAAGGGAAA
GGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGACACAAGAAGCTCTGACGACCAGAAAGATGATATTCCCGTGGAGAACTATGTGGCT
CAGCGTTACATTGAAAATCCTTACCTGATAGGAGGCCGCAAGTTTGACCTGCGTGTCTATGTGCTGGTGATGTCGGTGTTTGCTGAATGCCTGCTGTGGTCTGGG
CACAGGAGACAGGATGTTCACCTCACCAACGTGGCTGTGCAAAAAACATCTCCCGACTACCACCCAAAGAAGGGCTGCAAGTGGACGCTGCAGCGCTTCCGGCAG
TACCTGGCGTCCAAACACGGGCCCGAGGCAGTGGAGACACTCTTCAGGGACATCGACAACATCTTTGTCAAAAGCCTGCAGAGTGTGCAGAAGGTGATCATCAGT
GACAAGCACTGCTTCGAGCTGTACGGCTATGACATCCTCATCGACCAGGACCTCAAGCCGTGGCTCCTGGAGGTCAATGCGTCCCCATCACTGACAGCCAGCAGC
CAGGAAGACTATGAGCTCAAGACCTGCCTCCTGGAAGACACCCTGCATGTTGTGGACATGGAAGCGAGGCTCACGGGAAGGGAGAAGCGAGTCGGGGGCTTTGAC
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>TTLL9|164395|protein
MVPSREALLGPGTTAIRCPKKLQNQNYKGHGLSKGKEREQRASIRFKTTLMNTLMDVLRHRPGWVEVKDEGEWDFYWCDVSWLRENFDHTYMDEHVRISHFRNHY
ELTRKNYMVKNLKRFRKQLEREAGKLEAAKCDFFPKTFEMPCEYHLFVEEFRKNPGITWIMKPVARSQGKGIFLFRRLKDIVDWRKDTRSSDDQKDDIPVENYVA
QRYIENPYLIGGRKFDLRVYVLVMSVFAECLLWSGHRRQDVHLTNVAVQKTSPDYHPKKGCKWTLQRFRQYLASKHGPEAVETLFRDIDNIFVKSLQSVQKVIIS
DKHCFELYGYDILIDQDLKPWLLEVNASPSLTASSQEDYELKTCLLEDTLHVVDMEARLTGREKRVGGFDLMWNDGPVSREEGAPDLSGMGNFVTNTHLGCVNDR
KKQLRQLFCSLQVQKKASS
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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top