AutismKB 2.0

Evidence Details for C9orf68


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Basic Information Top
Gene Symbol:C9orf68 ( FLJ10058,bA6J24.2 )
Gene Full Name: chromosome 9 open reading frame 68
Band: 9p24.2
Quick LinksEntrez ID:55064; OMIM: NA; Uniprot ID:B4DIY4_HUMAN; ENSEMBL ID: ENSG00000106686; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf68|55064|nucleotide
ATGCCTCTGGAGGTGGTGGTGGAGCTGCAGATCCGGGCGATTTCTTGCCCAGGAGTGTTCCTGCCTGGCAAACAAGATGTGTACCTCGGGGTCTACCTCATGAAT
CAGTACCTGGAGACCAACAGCTTTCCCTCTGCGTTCCCCATTATGATTCAGGAGAGCATGAGATTTGAAAAGGGCATTGCTCCCAAAATAGAGTTTTCTACAAGG
ACAGCCATCAGAGAATGTGTGTTTCTGCATAGAAACAGATTTCTTGAAGAAAGACATGAGTCACGGAGGCCTTTATCTACATCACATGAACCAATATTTCCCTTA
AATACTATAAAGATGAAACTAAAGGAGAATAATCTCAACAGACTGCCCAAAGGCATGCAAGCCCGGGCGCCCTCTCAATATTCTACCAGGCATTTCTTCCAGGAC
CAGCCAGCTCAGTTGAACCTTGGAAATAATTTCAAAATCTCTGGAGGAAGCAAGCCTCCATTTGTTGTTAGACACGTGGACAGTGCAAAGCCCTTTGGTGAGAAT
ATTTCAGAGCATCATTTGAGGAGGTCTAGAAGAAAATCTAAGTTTTCAGACTTTCCGTTTCCAACGAGAAGAGCTTCTTCTCTTGACAGCCTTGCAGCTAACGTA
AAGGTTATCAAAGAGCCAGATGAACGGATTGTTTTAAGGAGTGACTCATCATCATGTTTAGATTCAAGTCAGTTTGGAAAGTCTTCATCCAGTAAACAAGGGGAT
GCTGATTTCCACGGGAAAGCTTCATTTGCCACCTACCAGCATTCCACCTCTCCTGGCCCCTTGGATCAGCCCCTTCTCAGAGAAAGGTTCCATCCTGGTTCTCAG
TCCACATGGAAGAATATCCATGAGAGGGTATGCAGTCTTCTGACATCCCACAGAGCACAGCTGCACCAAAACAAGGAAGATTCTACCTCTGAAGTAAATTATATC
ATTGAAAGACCAAGCTACCCTCTGAAGAAATACTCACTGCATGAACAGAGATATTTTTAA

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>C9orf68|55064|protein
MPLEVVVELQIRAISCPGVFLPGKQDVYLGVYLMNQYLETNSFPSAFPIMIQESMRFEKGIAPKIEFSTRTAIRECVFLHRNRFLEERHESRRPLSTSHEPIFPL
NTIKMKLKENNLNRLPKGMQARAPSQYSTRHFFQDQPAQLNLGNNFKISGGSKPPFVVRHVDSAKPFGENISEHHLRRSRRKSKFSDFPFPTRRASSLDSLAANV
KVIKEPDERIVLRSDSSSCLDSSQFGKSSSSKQGDADFHGKASFATYQHSTSPGPLDQPLLRERFHPGSQSTWKNIHERVCSLLTSHRAQLHQNKEDSTSEVNYI
IERPSYPLKKYSLHEQRYF

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top