AutismKB 2.0

Evidence Details for ZFC3H1


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Basic Information Top
Gene Symbol:ZFC3H1 ( CCDC131,DKFZp686A0722,KIAA0546,MGC23401,MGC90200,PSRC2 )
Gene Full Name: zinc finger, C3H1-type containing
Band: 12q21.1
Quick LinksEntrez ID:196441; OMIM: NA; Uniprot ID:ZC3H1_HUMAN; ENSEMBL ID: ENSG00000133858; HGNC ID: 28328
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZFC3H1|196441|nucleotide
ATGGCGACCGCAGATACTCCGGCCCCGGCCTCCAGTGGCCTCTCGCCGAAGGAAGAAGGGGAGCTTGAAGATGGGGAAATCAGTGACGACGATAATAACAGCCAG
ATACGGAGTCGGAGCAGCAGCAGCAGCAGCGGCGGCGGGCTGTTACCCTATCCGCGGCGAAGGCCTCCTCACTCGGCCCGGGGCGGTGGATCTGGCGGAGGCGGT
GGCTCTTCCTCGTCATCGTCCTCTTCTCAGCAGCAGCTGAGGAATTTCTCACGCTCGCGGCACGCGTCTGAGCGGGGCCACCTCAGGGGACCCAGCAGCTACCGA
CCCAAAGAACCGTTCCGGTCTCATCCGCCTTCTGTACGGATGCCTTCGAGCTCACTGTCCGAAAGCAGTCCCCGGCCGTCTTTCTGGGAGCGGAGCCACCTCGCC
TTGGACCGTTTCCGCTTTCGAGGCAGGCCTTACCGGGGTGGGAGTCGCTGGAGTCGGGGGCGAGGAGTGGGTGAGCGAGGAGGCAAGCCGGGGTGCAGACCTCCT
CTGGGAGGAGGAGCAGGATCCGGGTTCAGCAGCAGTCAGAGCTGGCGAGAGCCCTCTCCACCTCGGAAGAGCTCCAAAAGTTTTGGAAGGTCTCCATCAAGAAAA
CAAAATTATTCATCAAAAAATGAAAACTGTGTGGAAGAAACTTTTGAAGATTTGCTTTTAAAGTATAAACAAATACAGTTGGAACTAGAATGCATCAATAAGGAT
GAAAAACTAGCATTGAGTAGCAAAGAAGAGAATGTGCAGGAAGATCCTAAAACATTGAACTTCGAGGACCAAACTAGCACTGATAATGTCAGTATTACAAAGGAT
TCAAGTAAAGAAGTAGCTCCTGAGGAGAAAACACAAGTCAAAACTTTTCAGGCATTTGAATTAAAACCACTCAGGCAAAAATTGACTTTACCAGGAGATAAGAAC
CGTTTGAAAAAAGTTAAAGATGGAGCAAAACCACTTTCCCTGAAATCCGACACTACTGATTCTAGTCAAGGATTACAAGATAAAGAACAAAATTTAACAAGAAGA
ATTAGTACCTCAGATATTCTGTCTGAAAAGAAACTTGGTGAAGATGAAGAGGAACTATCTGAATTACAGCTTCGCCTTTTGGCTCTTCAGTCAGCCAGTAAAAAA
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>ZFC3H1|196441|protein
MATADTPAPASSGLSPKEEGELEDGEISDDDNNSQIRSRSSSSSSGGGLLPYPRRRPPHSARGGGSGGGGGSSSSSSSSQQQLRNFSRSRHASERGHLRGPSSYR
PKEPFRSHPPSVRMPSSSLSESSPRPSFWERSHLALDRFRFRGRPYRGGSRWSRGRGVGERGGKPGCRPPLGGGAGSGFSSSQSWREPSPPRKSSKSFGRSPSRK
QNYSSKNENCVEETFEDLLLKYKQIQLELECINKDEKLALSSKEENVQEDPKTLNFEDQTSTDNVSITKDSSKEVAPEEKTQVKTFQAFELKPLRQKLTLPGDKN
RLKKVKDGAKPLSLKSDTTDSSQGLQDKEQNLTRRISTSDILSEKKLGEDEEELSELQLRLLALQSASKKWQQKEQQVMKESKEKLTKTKTVQQKVKTSTKTHSA
KKVSTTAKQALRKQQTKAWKKLQQQKEQERQKEEDQRKQAEEEERRKREEEIRKIRDLSNQEEQYNRFMKLVGGKRRSRSKSSDPDLRRSLDKQPTDSGGGIYQY
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (3) 0 (0) 0 (0) 0 (0) 0 (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)
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