AutismKB 2.0

Evidence Details for FEZF1


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Basic Information Top
Gene Symbol:FEZF1 ( FEZ,ZNF312B )
Gene Full Name: FEZ family zinc finger 1
Band: 7q31.32
Quick LinksEntrez ID:389549; OMIM: 613301; Uniprot ID:FEZF1_HUMAN; ENSEMBL ID: ENSG00000128610; HGNC ID: 22788
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FEZF1|389549|nucleotide
ATGGACAGTAGCTGCCACAACGCGACTACCAAAATGTTAGCGACTGCTCCAGCTCGGGGCAACATGATGAGCACGTCCAAACCCTTGGCTTTCTCCATTGAACGA
ATCATGGCGCGCACCCCAGAGCCCAAGGCCCTGCCAGTCCCCCACTTCCTGCAGGGAGCCTTACCCAAGGGGGAACCCAAGCACTCTCTGCATCTCAACTCGTCG
ATCCCCTGCATGATCCCCTTCGTGCCTGTGGCCTACGACACGAGCCCCAAGGCAGGAGTGACGGGCTCCGAGCCGCGGAAGGCCAGTCTGGAGGCCCCGGCGGCG
CCCGCGGCGGTGCCCTCGGCTCCCGCATTCAGCTGCAGCGACCTGCTCAACTGCGCACTGAGTCTCAAGGGCGACCTGGCCCGCGACGCGCTGCCGCTGCAGCAG
TACAAGCTGGTAAGGCCGCGTGTGGTCAACCACTCTTCATTCCACGCCATGGGCGCCTTGTGCTACCTGAACCGAGGTGACGGCCCATGCCACCCGGCAGCCGGC
GTGAACATCCACCCGGTGGCCTCCTACTTCCTCAGTTCCCCTTTGCACCCGCAGCCAAAAACGTATTTAGCCGAAAGGAATAAACTGGTGGTCCCGGCGGTGGAG
AAATACCCTTCTGGAGTAGCTTTCAAAGACCTGTCCCAGGCTCAGCTGCAGCATTACATGAAAGAAAGCGCCCAGCTTCTGTCGGAAAAAATCGCGTTCAAAACC
TCGGATTTCAGCCGAGGCTCTCCTAATGCCAAGCCCAAAGTTTTCACTTGCGAAGTGTGTGGAAAGGTCTTTAATGCGCACTATAACTTAACCCGTCACATGCCA
GTGCACACAGGAGCCAGACCCTTCGTTTGCAAAGTGTGCGGAAAAGGTTTCAGGCAAGCAAGCACCCTGTGCAGGCACAAGATCATTCACACGCAGGAAAAACCT
CACAAATGTAACCAGTGTGGCAAAGCATTTAATAGAAGTTCCACTTTAAACACTCATACCCGAATACACGCGGGCTACAAACCGTTTGTGTGTGAATTCTGTGGC
AAAGGGTTTCATCAAAAAGGGAATTACAAAAACCACAAGTTGACCCACAGCGGGGAGAAGCAGTTCAAGTGCAATATCTGCAACAAGGCTTTCCACCAGGTTTAC
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>FEZF1|389549|protein
MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGEPKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAA
PAAVPSAPAFSCSDLLNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHPVASYFLSSPLHPQPKTYLAERNKLVVPAVE
KYPSGVAFKDLSQAQLQHYMKESAQLLSEKIAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQASTLCRHKIIHTQEKP
HKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYKNHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVR
KLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ
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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 2 (2) 0 (5) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 18 (9)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Maestrini, 2009_5 Discovery GoldenGate assay (Illumina, San Diego, CA, USA) 127
(20.47%)
ASD -
-
- 188
(21.28%)
-
-
Maestrini, 2009_6 Replication the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms 294
(19.73%)
ASD -
-
- 180
(20.00%)
-
-
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Okamoto, 2011 Japan -ASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top