AutismKB 2.0

Evidence Details for ZBBX


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Basic Information Top
Gene Symbol:ZBBX ( FLJ23049 )
Gene Full Name: zinc finger, B-box domain containing
Band: 3q26.1
Quick LinksEntrez ID:79740; OMIM: NA; Uniprot ID:ZBBX_HUMAN; ENSEMBL ID: ENSG00000169064; HGNC ID: 26245
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZBBX|79740|nucleotide
ATGAACAGAAAAGATTTTGTAGTTCTTCCATGGGGAAAACCTGGAAATTCTGTAAAGCTAAAATATAGAAATGCTCAAGAACTGCGAATGGAGAAAGTACAGTTA
GAGTTTGAGAACCAAGAGATGGAGAAGAAACTGCAAGAATTCCGATCCACAAGAAACAAAGAAAAGGAAGATAGAGAGTCAAGCGAGTATTACTGGAAATCTGGA
AAAGTGGGCAAATTGGTCAATCAATCATATATGATGTCACAAAATAAAGGAAATGTTGTTAAGTTTTCTGCTGGAAAAGTGAAATTAAAATTGCTGAAGGAACAG
ATTCAAGAGCCAGTGAAACCAACAGTTAATTATAAAATGGCAAATTCTTCAGAATGTGAAAAACCCAAGATAAATGGGAAAGTATGTGGACAGTGTGAGAACAAA
GCTGCTCTACTGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTG
CAGGCAAAATCTCAAATATTATTCAATGTATTGGATGTTGCCCATCAGTTTATAAAGGATGTTAATCCAGATGAACCCAAAGAGGAGAATAATTCTACAAAGGAA
ACCAGTAAAATTCAACATAAACCCAAATCTGTACTTCTCCAGAGGAGCAGCTCTGAGGTAGAAATTACAACGATGAAAAGAGCACAACGTACAAAACCAAGAAAG
AGTCTGTTGTGTGAAGGGTCATTCGATGAAGAAGCTTCTGCACAGTCCTTTCAGGAAGTGTTAAGTCAATGGAGAACCGGAAATCATGATGACAACAAGAAACAG
AATTTACATGCAGCAGTAAAAGACTCATTGGAAGAATGCGAAGTACAGACTAATCTGAAAATTTGGAGAGAACCACTTAATATTGAACTTAAAGAAGACATTCTA
TCCTATATGGAAAAATTATGGCTTAAAAAACACAGGAGAACTCCACAAGAGCAACTTTTTAAAATGCTACCAGATACGTTCCCACATCCACATGAAACCACTGGT
GATGCACAGTGTTCTCAAAATGAAAACGATGAAGATAGTGATGGTGAGGAGACCAAAGTACAACACACAGCTCTTTTATTGCCAGTAGAAACATTAAACATAGAG
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>ZBBX|79740|protein
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSYMMSQNKGNVVKFSAGKVKLKLLKEQ
IQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAKVHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKE
TSKIQHKPKSVLLQRSSSEVEITTMKRAQRTKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQNLHAAVKDSLEECEVQTNLKIWREPLNIELKEDIL
SYMEKLWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTYEEEFEEAENIVPYKVKLADA
DSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDFDNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVS
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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