AutismKB 2.0

Evidence Details for F11


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Basic Information Top
Gene Symbol:F11 ( FXI,MGC141891 )
Gene Full Name: coagulation factor XI
Band: 4q35.2
Quick LinksEntrez ID:2160; OMIM: 264900; Uniprot ID:FA11_HUMAN; ENSEMBL ID: ENSG00000088926; HGNC ID: 3529
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>F11|2160|nucleotide
ATGATTTTCTTATATCAAGTGGTACATTTCATTTTATTTACTTCAGTTTCTGGTGAATGTGTGACTCAGTTGTTGAAGGACACCTGCTTTGAAGGAGGGGACATT
ACTACGGTCTTCACACCAAGCGCCAAGTACTGCCAGGTAGTCTGCACTTACCACCCAAGATGTTTACTCTTCACTTTCACGGCGGAATCACCATCTGAGGATCCC
ACCCGATGGTTTACTTGTGTCCTGAAAGACAGTGTTACAGAAACACTGCCAAGAGTGAATAGGACAGCAGCGATTTCTGGGTATTCTTTCAAGCAATGCTCACAC
CAAATAAGCGCTTGCAACAAAGACATTTATGTGGACCTAGACATGAAGGGCATAAACTATAACAGCTCAGTTGCCAAGAGTGCTCAAGAATGCCAAGAAAGATGC
ACGGATGACGTCCACTGCCACTTTTTCACGTACGCCACAAGGCAGTTTCCCAGCCTGGAGCATCGTAACATTTGTCTACTGAAGCACACCCAAACAGGGACACCA
ACCAGAATAACGAAGCTCGATAAAGTGGTGTCTGGATTTTCACTGAAATCCTGTGCACTTTCTAATCTGGCTTGTATTAGGGACATTTTCCCTAATACGGTGTTT
GCAGACAGCAACATCGACAGTGTCATGGCTCCCGATGCTTTTGTCTGTGGCCGAATCTGCACTCATCATCCCGGTTGCTTGTTTTTTACCTTCTTTTCCCAGGAA
TGGCCCAAAGAATCTCAAAGAAATCTTTGTCTCCTTAAAACATCTGAGAGTGGATTGCCCAGTACACGCATTAAAAAGAGCAAAGCTCTTTCTGGTTTCAGTCTA
CAAAGCTGCAGGCACAGCATCCCAGTGTTCTGCCATTCTTCATTTTACCATGACACTGATTTCTTGGGAGAAGAACTGGATATTGTTGCTGCAAAAAGTCACGAG
GCCTGCCAGAAACTGTGCACCAATGCCGTCCGCTGCCAGTTTTTTACCTATACCCCAGCCCAAGCATCCTGCAACGAAGGGAAGGGCAAGTGTTACTTAAAGCTT
TCTTCAAACGGATCTCCAACTAAAATACTTCACGGGAGAGGAGGCATCTCTGGATACACATTAAGGTTGTGTAAAATGGATAATGAGTGTACCACCAAAATCAAG
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>F11|2160|protein
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSH
QISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVF
ADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHE
ACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSI
IGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLR
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
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

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Simple Query:


  (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