AutismKB 2.0

Evidence Details for KRT24


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Basic Information Top
Gene Symbol:KRT24 ( FLJ20261,K24,KA24,MGC138169,MGC138173 )
Gene Full Name: keratin 24
Band: 17q21.2
Quick LinksEntrez ID:192666; OMIM: 607742; Uniprot ID:K1C24_HUMAN; ENSEMBL ID: ENSG00000167916; HGNC ID: 18527
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KRT24|192666|nucleotide
ATGTCTTGCTCGTCTCGCGCCTCCTCCTCCAGGGCTGGAGGCAGCAGCTCAGCCAGGGTGTCTGCTGGTGGAAGCAGCTTCAGCAGTGGAAGCAGATGTGGTCTG
GGGGGCAGCTCGGCCCAGGGCTTCCGAGGAGGAGCCAGCAGCTGCAGCCTGAGTGGGGGGTCTAGCGGTGCTTTTGGGGGCAGCTTTGGAGGGGGCTTTGGTAGC
TGCTCAGTAGGGGGTGGTTTTGGGGGAGCTTCAGGCTCTGGGACAGGATTTGGTGGGGGTTCTAGCTTTGGCGGGGTCTCTGGATTTGGCAGGGGTTCTGGATTC
TGTGGGAGTTCTAGATTCAGCAGTGGTGCTACTGGAGGCTTCTACAGCTATGGTGGTGGTATGGGAGGTGGTGTTGGCGATGGGGGGCTTTTCTCTGGAGGGGAA
AAGCAAACCATGCAGAACCTCAATGACCGCTTGGCCAATTACCTAGACAAGGTCAGAGCCCTGGAGGAGGCTAACACTGATCTGGAGAACAAAATCAAGGAGTGG
TATGACAAATATGGGCCTGGGTCTGGAGACGGTGGATCGGGAAGAGATTATAGCAAATACTATTCAATAATTGAAGATCTCAGAAACCAGATCATTGCTGCCACT
GTTGAAAATGCTGGGATCATTTTGCACATTGACAATGCCAGATTGGCTGCTGATGACTTCAGACTGAAGTATGAGAACGAGCTGTGTCTCCGGCAGAGCGTGGAG
GCTGACATCAATGGCCTGCGGAAAGTCCTGGATGACCTGACTATGACCCGCTCTGACCTGGAGATGCAGATTGAGAGTTTCACCGAGGAGCTAGCCTACCTGAGG
AAGAACCACGAGGAGGAAATGAAGAATATGCAAGGAAGCTCTGGAGGGGAGGTGACCGTAGAAATGAATGCTGCGCCAGGGACCGACCTGACCAAATTACTGAAT
GACATGAGGGCGCAGTACGAGGAGCTGGCTGAGCAAAACCGCCGAGAGGCTGAGGAGCGGTTCAACAAGCAGAGCGCATCACTACAAGCACAAATCTCCACTGAT
GCTGGGGCAGCCACTTCTGCCAAGAATGAGATAACAGAACTAAAACGTACCCTGCAAGCCCTGGAAATTGAGCTTCAGTCCCAACTGGCCATGAAAAGCTCCCTG
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>KRT24|192666|protein
MSCSSRASSSRAGGSSSARVSAGGSSFSSGSRCGLGGSSAQGFRGGASSCSLSGGSSGAFGGSFGGGFGSCSVGGGFGGASGSGTGFGGGSSFGGVSGFGRGSGF
CGSSRFSSGATGGFYSYGGGMGGGVGDGGLFSGGEKQTMQNLNDRLANYLDKVRALEEANTDLENKIKEWYDKYGPGSGDGGSGRDYSKYYSIIEDLRNQIIAAT
VENAGIILHIDNARLAADDFRLKYENELCLRQSVEADINGLRKVLDDLTMTRSDLEMQIESFTEELAYLRKNHEEEMKNMQGSSGGEVTVEMNAAPGTDLTKLLN
DMRAQYEELAEQNRREAEERFNKQSASLQAQISTDAGAATSAKNEITELKRTLQALEIELQSQLAMKSSLEGTLADTEAGYVAQLSEIQTQISALEEEICQIWGE
TKCQNAEYKQLLDIKTRLEVEIETYRRLLDGEGGGSSFAEFGGRNSGSVNMGSRDLVSGDSRSGSCSGQGRDSSKTRVTKTIVEELVDGKVVSSQVSSISEVKVK
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 10 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Yuen RK, 2015 - Complete Genomics ASD 85 - 85 170 Sanger sequencing
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