AutismKB 2.0

Evidence Details for CHD6


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Basic Information Top
Gene Symbol:CHD6 ( CHD5,KIAA1335,RIGB )
Gene Full Name: chromodomain helicase DNA binding protein 6
Band: 20q12
Quick LinksEntrez ID:84181; OMIM: NA; Uniprot ID:CHD6_HUMAN; ENSEMBL ID: ENSG00000124177; HGNC ID: 19057
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHD6|84181|nucleotide
ATGAAAATGAAAATACAGAAAAAAGAGAAGCAGTTGTCAAATTTAAAAGTTTTGAATCACTCCCCAATGTCTGATGCCTCTGTCAATTTTGACTACAAATCTCCA
TCCCCATTTGACTGCAGCACTGATCAAGAAGAGAAAATTGAAGATGTTGCTAGTCACTGTCTGCCTCAGAAGGACCTGTATACTGCTGAAGAGGAAGCTGCTACC
CTTTTTCCTAGGAAAATGACATCCCATAATGGGATGGAGGACAGTGGAGGAGGAGGTACTGGAGTGAAGAAGAAACGGAAGAAAAAGGAGCCAGGAGACCAAGAG
GGTGCAGCAAAGGGAAGCAAGGACAGAGAGCCCAAGCCAAAGAGGAAACGAGAACCGAAAGAGCCAAAGGAACCCAGAAAGGCCAAGGAGCCGAAGAAGGCCAAG
GAGCACAAGGAGCCGAAGCAAAAAGATGGGGCAAAGAAGGCACGGAAGCCCCGGGAGGCCTCGGGCACCAAGGAGGCCAAAGAGAAGAGGAGCTGCACTGACTCT
GCAGCCAGGACGAAGTCCAGGAAGGCCAGCAAGGAGCAAGGACCAACCCCAGTGGAGAAAAAGAAGAAAGGAAAAAGGAAAAGTGAAACTACAGTGGAGAGTTTA
GAGCTGGATCAGGGCCTGACGAACCCATCTCTGCGGAGTCCTGAGGAGTCCACTGAGTCTACAGACAGCCAGAAACGACGCTCGGGAAGGCAAGTAAAGCGCAGA
AAATACAATGAGGACCTGGACTTCAAAGTGGTGGATGATGATGGGGAAACAATTGCTGTTCTTGGAGCTGGTCGAACATCTGCACTCTCAGCCTCTACACTGGCC
TGGCAGGCGGAGGAGCCTCCAGAAGATGATGCAAACATCATTGAGAAGATCCTGGCATCTAAGACTGTCCAGGAGGTTCACCCAGGAGAACCTCCGTTCGACTTG
GAGCTGTTCTACGTTAAGTATAGAAATTTTTCCTACTTACATTGTAAATGGGCCACAATGGAAGAGCTCGAAAAGGATCCTCGCATCGCACAGAAGATCAAGCGA
TTTAGGAATAAACAAGCCCAGATGAAGCACATTTTTACGGAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCAC
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>CHD6|84181|protein
MKMKIQKKEKQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHCLPQKDLYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQE
GAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEPKQKDGAKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESL
ELDQGLTNPSLRSPEESTESTDSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDL
ELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYVEVDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDP
AKVKEFESLQVLPEIKHVERPASDSWQKLEKSREYKNSNQLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSITFLSEIFLRGIHGPFLIIAPLSTITNWE
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Linkage Studies Top