AutismKB 2.0

Evidence Details for TTC39A


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Basic Information Top
Gene Symbol:TTC39A ( C1orf34,DEME-6,KIAA0452 )
Gene Full Name: tetratricopeptide repeat domain 39A
Band: 1p32.3
Quick LinksEntrez ID:22996; OMIM: NA; Uniprot ID:TT39A_HUMAN; ENSEMBL ID: ENSG00000085831; HGNC ID: 18657
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTC39A|22996|nucleotide
ATGGGCCAGAAGGGCCACAAAGACTCCCTTTACCCTTGTGGAGGGACTCCTGAGAGCAGCCTCCATGAGGCCCTGGACCAGTGCATGACCGCCCTGGACCTCTTC
CTCACCAACCAGTTCTCAGAAGCACTCAGCTACCTCAAGCCCAGAACCAAGGAAAGCATGTACCACTCACTGACATATGCCACCATCCTGGAGATGCAGGCCATG
ATGACCTTTGACCCTCAGGACATCCTGCTTGCCGGCAACATGATGAAGGAGGCACAGATGCTGTGTCAGAGGCACCGGAGGAAGTCTTCTGTAACAGATTCCTTC
AGCAGCCTGGTGAACCGCCCCACGCTGGGCCAATTCACTGAAGAGGAAATCCACGCTGAGGTCTGCTATGCAGAGTGCCTGCTGCAGCGAGCAGCCCTGACCTTC
CTGCAGGACGAGAACATGGTGAGCTTCATCAAAGGCGGCATCAAAGTTCGAAACAGCTACCAGACCTACAAGGAGCTGGACAGCCTTGTTCAGTCCTCACAATAC
TGCAAGGGTGAGAACCACCCGCACTTTGAAGGAGGAGTGAAGCTTGGTGTAGGGGCCTTCAACCTGACACTGTCCATGCTTCCTACTAGGATCCTGAGGCTGTTG
GAGTTTGTGGGGTTTTCAGGAAACAAGGACTATGGGCTGCTGCAGCTGGAGGAGGGAGCGTCAGGGCACAGCTTCCGCTCTGTGCTCTGTGTCATGCTCCTGCTG
TGCTACCACACCTTCCTCACCTTCGTGCTCGGTACTGGGAACGTCAACATCGAGGAGGCCGAGAAGCTCTTGAAGCCCTACCTGAACCGGTACCCTAAGGGTGCC
ATCTTCCTGTTCTTTGCAGGGAGGATTGAAGTCATTAAAGGCAACATTGATGCAGCCATCCGGCGTTTCGAGGAGTGCTGTGAGGCCCAGCAGCACTGGAAGCAG
TTCCACCACATGTGCTACTGGGAGCTGATGTGGTGCTTCACCTACAAGGGCCAGTGGAAGATGTCCTACTTCTACGCCGACCTGCTCAGCAAGGAGAACTGCTGG
TCCAAGGCCACCTACATTTACATGAAGGCCGCCTACCTCAGCATGTTTGGGAAGGAGGACCACAAGCCGTTCGGGGACGACGAAGTGGAATTATTTCGAGCTGTG
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>TTC39A|22996|protein
MGQKGHKDSLYPCGGTPESSLHEALDQCMTALDLFLTNQFSEALSYLKPRTKESMYHSLTYATILEMQAMMTFDPQDILLAGNMMKEAQMLCQRHRRKSSVTDSF
SSLVNRPTLGQFTEEEIHAEVCYAECLLQRAALTFLQDENMVSFIKGGIKVRNSYQTYKELDSLVQSSQYCKGENHPHFEGGVKLGVGAFNLTLSMLPTRILRLL
EFVGFSGNKDYGLLQLEEGASGHSFRSVLCVMLLLCYHTFLTFVLGTGNVNIEEAEKLLKPYLNRYPKGAIFLFFAGRIEVIKGNIDAAIRRFEECCEAQQHWKQ
FHHMCYWELMWCFTYKGQWKMSYFYADLLSKENCWSKATYIYMKAAYLSMFGKEDHKPFGDDEVELFRAVPGLKLKIAGKSLPTEKFAIRKSRRYFSSNPISLPV
PALEMMYIWNGYAVIGKQPKLTDGILEIITKAEEMLEKGPENEYSVDDECLVKLLKGLCLKYLGRVQEAEENFRSISANEKKIKYDHYLIPNALLELALLLMEQD
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top