AutismKB 2.0

Evidence Details for TTC33


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Basic Information Top
Gene Symbol:TTC33 ( OSRF )
Gene Full Name: tetratricopeptide repeat domain 33
Band: 5p13.1
Quick LinksEntrez ID:23548; OMIM: NA; Uniprot ID:TTC33_HUMAN; ENSEMBL ID: ENSG00000113638; HGNC ID: 29959
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTC33|23548|nucleotide
ATGGCTTCCTTTGGGTGGAAGAGGAAAATTGGTGAGAAGGTCTCAAAGGTCACTTCCCAGCAGTTTGAAGCTGAAGCTGCTGATGAGAAGGATGTAGTTGACAAC
GATGAAGGGAACTGGCTTCATGCCATTAAACGTAGGAAAGAAATTCTTCTTGAAGGCTGTGCTGAGAAAAGTAAACAGCTGAAGGATGAAGGAGCCAGTTTGGCT
GAAAATAAAAGATATCGGGAGGCAATTCAGAAGTGGGATGAAGCACTACAGTTAACTCCAAATGATGCTACCCTATACGAGATGAAATCACAGGTGCTAATGTCT
CTTCATGAAATGTTCCCAGCAGTACATGCAGCAGAAATGGCCGTCCAGCAAAATCCACATTCATGGGAGTCTTGGCAGACTTTGGGACGTGCTCAACTTGGTTTA
GGAGAGATAATCCTGGCAATTCGAAGTTTTCAAGTAGCCCTTCACATCTATCCAATGAACCCTGAAATATGGAAAGAAGACCTCTCTTGGGCAAGAACGCTCCAG
GAGCAGCAGAAGGTAGCACAGAGGATTAAAAAAAGTGAAGCACCAGCTGAAGTAACACACTTTTCACCAAAGTCAATTCCAGACTATGACTTTGAAAGTGATGAG
ATTGTTGCTGTTTGTGCAGCTATTGCTGAGAAAGAGAAGACAGTTTCAGCAAATAAAACAATGGTTATTGTGTCTGCTTCTGGGGCCATAGAGACTGTAACTGAA
AAGGAGGATGGTGCTACACCACCAGATGGCTCTGTTTTTATCAAAGCCCGATGA



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>TTC33|23548|protein
MASFGWKRKIGEKVSKVTSQQFEAEAADEKDVVDNDEGNWLHAIKRRKEILLEGCAEKSKQLKDEGASLAENKRYREAIQKWDEALQLTPNDATLYEMKSQVLMS
LHEMFPAVHAAEMAVQQNPHSWESWQTLGRAQLGLGEIILAIRSFQVALHIYPMNPEIWKEDLSWARTLQEQQKVAQRIKKSEAPAEVTHFSPKSIPDYDFESDE
IVAVCAAIAEKEKTVSANKTMVIVSASGAIETVTEKEDGATPPDGSVFIKAR


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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 (1) 0 (0) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
ASIAN
Cho, 2011_1 - FUJIFLM DNA Whole Blood Kit S and QuickGene 810 42 42
(-)
ASD 77.7±22.6 months
(49-149) months
46.2±12.2
(31-65)
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top