AutismKB 2.0

Evidence Details for HSPA13


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Basic Information Top
Gene Symbol:HSPA13 ( STCH )
Gene Full Name: heat shock protein 70kDa family, member 13
Band: 21q11.2
Quick LinksEntrez ID:6782; OMIM: 601100; Uniprot ID:HSP13_HUMAN; ENSEMBL ID: ENSG00000155304; HGNC ID: 11375
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSPA13|6782|nucleotide
ATGGCCAGAGAGATGACGATCTTAGGATCGGCTGTTTTGACTCTCCTGTTGGCCGGCTATTTGGCACAACAGTATTTACCATTGCCTACTCCTAAAGTGATTGGT
ATTGATCTTGGCACCACCTATTGTTCTGTTGGGGTGTTTTTTCCTGGCACAGGAAAAGTAAAGGTGATTCCAGATGAAAATGGGCATATCAGCATACCCAGCATG
GTGTCTTTTACTGACAATGATGTATATGTGGGATATGAAAGCGTAGAGCTGGCAGATTCAAATCCTCAAAACACAATATATGATGCCAAAAGATTCATAGGCAAG
ATTTTTACCGCAGAAGAGTTGGAGGCTGAAATTGGCAGATACCCATTTAAGGTTTTAAACAAAAATGGAATGGTTGAGTTTTCTGTGACAAGTAATGAGACCATC
ACAGTGTCCCCAGAATATGTTGGCTCTCGACTATTGTTGAAGTTAAAGGAAATGGCAGAGGCATATCTTGGAATGCCAGTTGCCAATGCTGTCATTTCTGTACCA
GCAGAATTTGATCTAAAACAGAGAAATTCAACAATTGAAGCTGCTAACCTTGCAGGACTGAAGATTTTGAGGGTAATAAATGAACCCACAGCAGCAGCTATGGCC
TATGGTCTCCACAAGGCTGACGTCTTCCACGTCTTGGTGATAGACTTGGGCGGAGGAACTCTAGATGTGTCTTTACTGAATAAACAAGGAGGGATGTTTCTAACC
CGAGCAATGTCTGGAAACAATAAACTTGGAGGACAGGACTTCAATCAGAGATTGCTTCAGTACTTATATAAACAGATCTATCAAACATATGGCTTCGTGCCCTCT
AGGAAAGAGGAAATCCACAGATTGAGACAAGCTGTGGAAATGGTCAAATTAAATCTGACTCTTCATCAATCTGCTCAGTTGTCAGTATTACTAACGGTGGAGGAG
CAGGACAGGAAGGAACCTCACAGTAGTGACACTGAACTGCCAAAAGACAAACTTTCCTCAGCAGATGACCATCGCGTGAACAGTGGGTTTGGACGTGGCCTTTCT
GATAAGAAAAGTGGAGAAAGTCAGGTTTTATTTGAAACAGAAATATCACGGAAACTCTTTGATACCCTTAATGAAGACCTCTTTCAGAAAATACTGGTACCCATT
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>HSPA13|6782|protein
MAREMTILGSAVLTLLLAGYLAQQYLPLPTPKVIGIDLGTTYCSVGVFFPGTGKVKVIPDENGHISIPSMVSFTDNDVYVGYESVELADSNPQNTIYDAKRFIGK
IFTAEELEAEIGRYPFKVLNKNGMVEFSVTSNETITVSPEYVGSRLLLKLKEMAEAYLGMPVANAVISVPAEFDLKQRNSTIEAANLAGLKILRVINEPTAAAMA
YGLHKADVFHVLVIDLGGGTLDVSLLNKQGGMFLTRAMSGNNKLGGQDFNQRLLQYLYKQIYQTYGFVPSRKEEIHRLRQAVEMVKLNLTLHQSAQLSVLLTVEE
QDRKEPHSSDTELPKDKLSSADDHRVNSGFGRGLSDKKSGESQVLFETEISRKLFDTLNEDLFQKILVPIQQVLKEGHLEKTEIDEVVLVGGSTRIPRIRQVIQE
FFGKDPNTSVDPDLAVVTGVAIQAGIDGGSWPLQVSALEIPNKHLQKTNFN
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 0 (0) 0 (0) 0 (1)
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
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