AutismKB 2.0

Evidence Details for ZCCHC6


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Basic Information Top
Gene Symbol:ZCCHC6 ( DKFZp666B142,DKFZp686C11112,DKFZp686F119,DKFZp686I1269,PAPD6 )
Gene Full Name: zinc finger, CCHC domain containing 6
Band: 9q21.33
Quick LinksEntrez ID:79670; OMIM: NA; Uniprot ID:TUT7_HUMAN; ENSEMBL ID: ENSG00000083223; HGNC ID: 25817
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZCCHC6|79670|nucleotide
ATGGGAGATACAGCAAAACCTTATTTCGTGAAGCGCACTAAAGACCGGGGGACTATGGATGATGATGACTTCAGAAGGGGTCACCCCCAACAAGATTATTTAATA
ATAGATGACCATGCTAAAGGCCATGGCAGTAAAATGGAAAAGGGCCTTCAAAAAAAGAAGATAACACCAGGGAACTATGGGAATACCCCCAGAAAAGGACCATGT
GCTGTTTCCAGCAATCCATATGCATTTAAAAACCCAATCTACAGTCAACCCGCTTGGATGAATGACAGCCACAAAGATCAGAGTAAGAGATGGCTGTCTGATGAA
CATACTGGTAATTCAGACAACTGGAGAGAATTCAAACCTGGACCTAGAATTCCTGTTATAAACCGACAAAGAAAAGACTCCTTTCAAGAAAATGAAGATGGTTAT
AGGTGGCAAGACACAAGAGGCTGCAGAACTGTAAGACGACTGTTTCATAAAGACCTAACAAGCCTAGAAACCACGTCAGAAATGGAAGCAGGAAGTCCTGAAAAC
AAGAAGCAGAGGTCCAGACCTAGGAAGCCACGGAAGACTAGAAATGAGGAAAATGAGCAGGATGGAGACTTGGAAGGCCCTGTGATCGATGAGTCTGTACTTTCA
ACGAAGGAGCTGCTAGGCTTACAGCAGGCTGAGGAGAGACTGAAGAGAGACTGCATTGACAGGCTAAAAAGGCGACCACGAAACTACCCTACAGCAAAGTACACC
TGCAGACTCTGTGATGTTTTAATTGAATCCATTGCATTTGCCCATAAGCATATCAAGGAAAAGAGGCACAAGAAAAACATTAAGGAGAAGCAAGAGGAAGAGTTG
CTCACTACGTTACCCCCACCAACACCCTCCCAGATAAATGCAGTTGGCATTGCCATTGACAAAGTGGTACAGGAATTTGGCTTACACAATGAGAACTTGGAACAG
AGGCTGGAAATTAAACGTATCATGGAAAATGTGTTCCAACACAAGTTACCAGATTGTTCCCTAAGATTATATGGGTCATCCTGTAGCAGATTGGGTTTCAAAAAT
TCGGATGTAAACATTGACATCCAGTTTCCAGCCATTATGTCTCAGCCAGATGTCCTCTTACTTGTTCAAGAATGTTTAAAGAACAGTGACTCCTTTATTGATGTT
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>ZCCHC6|79670|protein
MGDTAKPYFVKRTKDRGTMDDDDFRRGHPQQDYLIIDDHAKGHGSKMEKGLQKKKITPGNYGNTPRKGPCAVSSNPYAFKNPIYSQPAWMNDSHKDQSKRWLSDE
HTGNSDNWREFKPGPRIPVINRQRKDSFQENEDGYRWQDTRGCRTVRRLFHKDLTSLETTSEMEAGSPENKKQRSRPRKPRKTRNEENEQDGDLEGPVIDESVLS
TKELLGLQQAEERLKRDCIDRLKRRPRNYPTAKYTCRLCDVLIESIAFAHKHIKEKRHKKNIKEKQEEELLTTLPPPTPSQINAVGIAIDKVVQEFGLHNENLEQ
RLEIKRIMENVFQHKLPDCSLRLYGSSCSRLGFKNSDVNIDIQFPAIMSQPDVLLLVQECLKNSDSFIDVDADFHARVPVVVCREKQSGLLCKVSAGNENACLTT
KHLTALGKLEPKLVPLVIAFRYWAKLCSIDRPEEGGLPPYVFALMAIFFLQQRKEPLLPVYLGSWIEGFSLSKLGNFNLQDIEKDVVIWEHTDSAAGDTGITKEE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Weiss, 2009_2 Replication Affymetrix 5.0/500K arrays, Taqman assays 2073 -
(-)		ASD -
-		 -
-
MIXED/OTHERS
Weiss, 2009_1 Discovery Affymetrix 5.0 and 500K arrays 1038 -
(-)		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