AutismKB 2.0

Evidence Details for KLF13


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Basic Information Top
Gene Symbol:KLF13 ( BTEB3,FKLF2,NSLP1,RFLAT-1,RFLAT1 )
Gene Full Name: Kruppel-like factor 13
Band: 15q13.3
Quick LinksEntrez ID:51621; OMIM: 605328; Uniprot ID:KLF13_HUMAN; ENSEMBL ID: ENSG00000169926; HGNC ID: 13672
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KLF13|51621|nucleotide
ATGGCAGCCGCCGCCTATGTGGACCACTTCGCCGCCGAGTGCCTCGTGTCCATGTCGAGCCGCGCGGTCGTGCACGGGCCGCGGGAGGGGCCGGAGTCCCGGCCC
GAGGGCGCGGCCGTGGCCGCCACCCCCACGCTGCCCCGCGTCGAGGAGCGCCGCGACGGTAAGGACAGCGCCTCGCTCTTCGTGGTGGCGCGGATCCTAGCGGAC
CTCAACCAGCAAGCGCCGGCGCCCGCCCCGGCGGAGCGCAGGGAGGGCGCCGCGGCCCGGAAGGCGAGGACCCCCTGCCGCCTGCCGCCGCCCGCCCCCGAGCCC
ACCTCCCCCGGCGCCGAAGGCGCGGCGGCCGCGCCCCCCAGCCCGGCGTGGAGCGAGCCGGAGCCCGAGGCGGGGCTGGAGCCCGAGCGGGAGCCGGGGCCCGCG
GGGAGCGGCGAGCCCGGCCTCAGACAAAGGGTCCGGCGGGGCCGAAGTCGCGCCGACCTCGAGTCCCCGCAGAGGAAGCACAAGTGCCACTACGCGGGCTGCGAG
AAAGTTTACGGGAAATCTTCGCACCTCAAGGCGCACCTGAGAACTCACACAGGTGAGAGGCCCTTCGCCTGCAGCTGGCAGGACTGCAACAAGAAGTTCGCGCGC
TCCGACGAGCTGGCGCGGCACTACCGCACACACACGGGCGAGAAGAAGTTCAGCTGCCCCATCTGCGAGAAGCGCTTCATGCGCAGCGACCACCTGACCAAGCAC
GCGCGCCGCCACGCCAACTTCCACCCGGGAATGCTGCAGCGGCGCGGCGGGGGCTCGCGGACCGGCTCCCTCAGCGACTACAGCCGCTCCGACGCCAGCAGCCCC
ACCATCAGCCCGGCCAGCTCGCCCTGA


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>KLF13|51621|protein
MAAAAYVDHFAAECLVSMSSRAVVHGPREGPESRPEGAAVAATPTLPRVEERRDGKDSASLFVVARILADLNQQAPAPAPAERREGAAARKARTPCRLPPPAPEP
TSPGAEGAAAAPPSPAWSEPEPEAGLEPEREPGPAGSGEPGLRQRVRRGRSRADLESPQRKHKCHYAGCEKVYGKSSHLKAHLRTHTGERPFACSWQDCNKKFAR
SDELARHYRTHTGEKKFSCPICEKRFMRSDHLTKHARRHANFHPGMLQRRGGGSRTGSLSDYSRSDASSPTISPASSP


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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) 2 (21) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 6 (23)
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
Wolpert, 2000 - STS mappingautism 3 - 3 - 3 - 3
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Silva, 2002 - FISHautism - - - - 1 - 1
Keller, 2003 USA FISHASD - - - - 2 - 2
Sahoo, 2005 USA aCGHautism - - - - 9 - 9
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Kwasnicka-Crawford, 2007 - STS mappingautism - - - - 1 - 1
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Wassink, 2007 USA FISHPDD - - - - 104 - 104
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Miller, 2009 USA aCGHASD 751 - 751 - 1441 1552 2993
Pagnamenta, 2009 - SNP microarrayautism, ASD - - - - 3 - 3
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2009 - aCGHASD - - - - 148 - 148
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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