AutismKB 2.0

Evidence Details for FBXO16


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Basic Information Top
Gene Symbol:FBXO16 ( FBX16,MGC125923,MGC125924,MGC125925 )
Gene Full Name: F-box protein 16
Band: 8p21.1
Quick LinksEntrez ID:157574; OMIM: 608519; Uniprot ID:FBX16_HUMAN; ENSEMBL ID: ENSG00000214050; HGNC ID: 13618
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBXO16|157574|nucleotide
ATGATGGCATTTGCACCTCCAAAAAACACAGATGGTCCCAAAATGCAGACAAAGATGAGCACCTGGACACCCCTAAACCATCAGCTATTGAATGACCGGGTATTT
GAAGAAAGAAGAGCCCTGCTTGGCAAATGGTTTGACAAATGGACAGACTCTCAAAGAAGAAGAATCCTCACAGGCCTGTTGGAGCGCTGCTCGCTGTCCCAGCAA
AAGTTCTGCTGTCGAAAGCTTCAAGAGAAAATTCCAGCAGAAGCCCTGGACTTTACAACCAAGCTTCCAAGGGTGTTATCTTTATACATCTTTTCTTTCCTGGAC
CCTCGGAGCCTTTGTCGTTGTGCACAGGTGTGCTGGCATTGGAAGAACCTTGCTGAGCTGGACCAGCTCTGGATGCTGAAATGTTTACGGTTTAACTGGTACATC
AATTTCTCTCCAACTCCCTTTGAGCAGGGGATCTGGAAGAAGCACTATATTCAAATGGTGAAAGAACTTCATATTACCAAGCCTAAGACACCCCCAAAGGATGGA
TTTGTAATCGCTGACGTTCAACTAGTTACAAGCAATTCTCCAGAGGAAAAACAGTCCCCTTTATCAGCTTTTCGGTCCTCTTCCTCTTTAAGAAAGAAGAATAAC
TCAGGGGAGAAAGCACTTCCACCCTGGCGATCTTCTGATAAGCACCCAACAGATATCATTCGTTTTAATTACCTAGACAACCGTGACCCCATGGAGACTGTCCAG
CAAGGAAGAAGAAAAAGAAACCAAATGACCCCAGACTTCAGCCGACAGTCACATGATAAGAAAAATAAATTGCAGGACAGAACTAGGCTAAGAAAAGCACAATCA
ATGATGTCGAGGAGAAATCCCTTCCCACTATGTCCCTAA


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>FBXO16|157574|protein
MMAFAPPKNTDGPKMQTKMSTWTPLNHQLLNDRVFEERRALLGKWFDKWTDSQRRRILTGLLERCSLSQQKFCCRKLQEKIPAEALDFTTKLPRVLSLYIFSFLD
PRSLCRCAQVCWHWKNLAELDQLWMLKCLRFNWYINFSPTPFEQGIWKKHYIQMVKELHITKPKTPPKDGFVIADVQLVTSNSPEEKQSPLSAFRSSSSLRKKNN
SGEKALPPWRSSDKHPTDIIRFNYLDNRDPMETVQQGRRKRNQMTPDFSRQSHDKKNKLQDRTRLRKAQSMMSRRNPFPLCP


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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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