AutismKB 2.0

Evidence Details for FEZ1


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Basic Information Top
Gene Symbol:FEZ1 ( - )
Gene Full Name: fasciculation and elongation protein zeta 1 (zygin I)
Band: 11q24.2
Quick LinksEntrez ID:9638; OMIM: 604825; Uniprot ID:FEZ1_HUMAN; ENSEMBL ID: ENSG00000149557; HGNC ID: 3659
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FEZ1|9638|nucleotide
ATGGAGGCCCCACTGGTGAGTCTGGATGAAGAGTTTGAGGACCTTCGACCCTCCTGCTCGGAGGACCCGGAGGAGAAGCCCCAGTGTTTCTATGGTTCATCTCCC
CACCATCTCGAGGACCCCTCCCTCTCCGAGCTTGAGAATTTTTCTTCCGAAATAATCAGCTTCAAGTCCATGGAGGACCTCGTAAATGAATTTGATGAGAAGCTC
AATGTCTGCTTTCGGAACTACAACGCCAAGACCGAGAACCTAGCTCCCGTGAAGAACCAGTTACAGATCCAAGAGGAGGAGGAGACCCTTCAGGACGAGGAGGTT
TGGGATGCTCTGACAGACAATTACATCCCTTCACTCTCAGAAGACTGGAGGGATCCAAACATCGAGGCTCTGAATGGCAACTGCTCTGACACTGAGATCCATGAG
AAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTAATTGAGGAGATTGAGGAAATGATG
CAGAACTCCCCAGACCCTGAGGAAGAAGAGGAGGTTCTGGAAGAAGAGGATGGAGGAGAAACTTCCTCCCAGGCAGACTCGGTCCTCCTGCAGGAGATGCAGGCA
TTGACACAGACCTTCAACAACAACTGGTCCTATGAAGGGCTGAGGCACATGTCTGGGTCTGAGCTGACCGAGCTGCTGGACCAGGTGGAGGGTGCCATCCGTGAC
TTCTCGGAGGAGCTGGTGCAGCAGCTGGCCCGCCGGGACGAGCTGGAGTTTGAGAAGGAAGTGAAGAACTCCTTTATCACGGTGCTTATTGAGGTTCAGAACAAG
CAGAAGGAGCAGCGAGAACTGATGAAAAAGAGGCGGAAAGAGAAAGGGCTGAGCCTGCAGAGCAGCCGGATAGAGAAGGGAAACCAGATGCCTCTCAAGCGCTTC
AGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGTATCTGAACACAGTCATTCCTTACGAGAAG
AAAGCCTCTCCTCCCTCAGTGGAAGACCTGCAGATGCTGACAAACATTCTCTTTGCCATGAAGGAGGATAATGAGAAGGTGCCTACTTTGCTAACGGACTACATT
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>FEZ1|9638|protein
MEAPLVSLDEEFEDLRPSCSEDPEEKPQCFYGSSPHHLEDPSLSELENFSSEIISFKSMEDLVNEFDEKLNVCFRNYNAKTENLAPVKNQLQIQEEEETLQDEEV
WDALTDNYIPSLSEDWRDPNIEALNGNCSDTEIHEKEEEEFNEKSENDSGINEEPLLTADQVIEEIEEMMQNSPDPEEEEEVLEEEDGGETSSQADSVLLQEMQA
LTQTFNNNWSYEGLRHMSGSELTELLDQVEGAIRDFSEELVQQLARRDELEFEKEVKNSFITVLIEVQNKQKEQRELMKKRRKEKGLSLQSSRIEKGNQMPLKRF
SMEGISNILQSGIRQTFGSSGTDKQYLNTVIPYEKKASPPSVEDLQMLTNILFAMKEDNEKVPTLLTDYILKVLCPT

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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 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018