AutismKB 2.0

Evidence Details for HSF5


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Basic Information Top
Gene Symbol:HSF5 ( FLJ40311,HSF 5,HSTF 5,MGC134827 )
Gene Full Name: heat shock transcription factor family member 5
Band: 17q22
Quick LinksEntrez ID:124535; OMIM: NA; Uniprot ID:HSF5_HUMAN; ENSEMBL ID: ENSG00000176160; HGNC ID: 26862
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSF5|124535|nucleotide
ATGGAGGCGCTGCTCTCCACCCCCATCAACCCCAACAACTTCCCCGCCAAGCTGTGGCGCCTGGTGAACAGCCCGCGCTACCGCTCCATCCGCTGGGACGGCCGC
GGCGAGGGGCTGCTTATCGATCAGCCGCTCTTCGAGGCCGAGCTGCTCAGCCCGCCCGGGCCGGGGGGCGGTGGCGGGACTGCGGGGGCCGGGGCCGAGCCCGAG
CTCTTCAAAACCACCAGCTTCACCAGCTTCATCCGCCAGCTCAACCTCTACGGCTTCCGCAAGGTGGTGCTGGGCGGGCCGGGGGGCGGCAAACCGGCAGGCAAT
GGGCCGCTCCATCACTTCCACAACCCGCACTTCCGCCGCGACCAGCCACAGCTGCTCGTGCACCTCAAGCGCCTCACCAGCGCCAACAAGGCCAAGCTGGCGGCC
GGCCTGGAGGTGCCCTGCCGCCCGCCCAACCGCTTCCAGCGGCTGCTCATCACCTCGGCCTCCGCCGCCACCGCGCCACTGCAGCACCAGCAGCCGCCGCCGCCC
GCGGGGCCCCGGCCCGAGCCGCACGGACCAGTGGCTGTAGGACAATTTCACCGGTCATTTCGTCGAGATAGTTTGTCTCCTTACTCCTGTGTATCAACTCCATCC
CACGACCACAGTACTTACCCTCTGAAAGGTTTAGATCGGACCCCAGTTCCTCATAGAATATGGCAGAACTCCCTTGGAATGCATCCTGGACAAGTGGAGACATCT
CCCACATTTTCAGATAAAGGGGTTCCGTTTCCTGTACTCCAGAGGTTTCCAACTGAGGTTACCTATACACTGCAGCCCAGCACCACATCTGTACATGTTCAACAA
GGTCCTCAAACAATGGTCAGCTCCTCCCAAAAATACAGTAACTACACACCCTCAGCACAGTACTCGCAAGCCTACTATCCAACAGCTGTGCTACAGTGCTGTTCT
CCTACCCACATGGATGCTCTAAGTAGTTGTGTCACTCCCAATGCCTCTTCCTATGCACACTGCAACTACTTCCAGAATCCTTCAATGCAGTCCTCCTATCCAGTT
GAATTTTTGCCTTCCAATTGGCCCTGCAGTACTACTGATGAAAATACAAAGACAGAAGTAAACCTAGAGGCTGTCTTTCAGATAGTTGATGAGTTGCATTCCTCC
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>HSF5|124535|protein
MEALLSTPINPNNFPAKLWRLVNSPRYRSIRWDGRGEGLLIDQPLFEAELLSPPGPGGGGGTAGAGAEPELFKTTSFTSFIRQLNLYGFRKVVLGGPGGGKPAGN
GPLHHFHNPHFRRDQPQLLVHLKRLTSANKAKLAAGLEVPCRPPNRFQRLLITSASAATAPLQHQQPPPPAGPRPEPHGPVAVGQFHRSFRRDSLSPYSCVSTPS
HDHSTYPLKGLDRTPVPHRIWQNSLGMHPGQVETSPTFSDKGVPFPVLQRFPTEVTYTLQPSTTSVHVQQGPQTMVSSSQKYSNYTPSAQYSQAYYPTAVLQCCS
PTHMDALSSCVTPNASSYAHCNYFQNPSMQSSYPVEFLPSNWPCSTTDENTKTEVNLEAVFQIVDELHSSPKLEMVKVEPVENQCPTSPSYRGQHILANSNNSNP
CSASQASQLEPLTPVGSDIMSFVVGTEQAVACSLPQSPEYIYTIHTAQPVENSTIQESAAIQQAHVKLKEHLNHNPSPSSVVFVQEGPPFSTHQVDANIKCQTSS
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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 (1) 0 (0) 0 (0) 0 (2)
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
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