AutismKB 2.0

Evidence Details for HSPA1L


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Basic Information Top
Gene Symbol:HSPA1L ( HSP70-1L,HSP70-HOM,HSP70T,hum70t )
Gene Full Name: heat shock 70kDa protein 1-like
Band: 6p21.33
Quick LinksEntrez ID:3305; OMIM: 140559; Uniprot ID:HS71L_HUMAN; ENSEMBL ID: ENSG00000204390; HGNC ID: 5234
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSPA1L|3305|nucleotide
ATGGCTACTGCCAAGGGAATCGCCATAGGCATCGACCTGGGCACCACCTACTCCTGTGTGGGGGTGTTCCAGCACGGCAAGGTGGAGATCATCGCCAACGACCAG
GGCAACCGCACCACCCCCAGCTACGTGGCCTTCACAGACACCGAGCGGCTCATTGGGGATGCGGCCAAGAACCAGGTAGCAATGAATCCCCAGAACACTGTTTTT
GATGCTAAACGTCTGATCGGCAGGAAATTTAATGATCCTGTTGTACAAGCAGATATGAAACTTTGGCCTTTTCAAGTGATTAATGAAGGAGGCAAGCCCAAAGTC
CTTGTGTCCTACAAAGGGGAGAATAAAGCTTTCTACCCTGAGGAAATCTCTTCGATGGTATTGACTAAGTTGAAGGAGACTGCTGAGGCCTTTTTGGGCCACCCT
GTCACCAATGCAGTGATTACCGTGCCAGCCTATTTCAATGACTCTCAACGTCAGGCTACTAAGGATGCAGGTGTGATTGCTGGACTTAATGTGCTAAGAATCATC
AATGAGCCCACGGCTGCTGCCATTGCCTATGGTTTAGATAAAGGAGGTCAAGGAGAACGACATGTCCTGATTTTTGATCTGGGTGGAGGCACATTTGATGTGTCA
ATTCTGACCATAGATGATGGGATTTTTGAGGTAAAGGCCACTGCTGGGGACACTCACCTGGGTGGGGAGGACTTTGACAACAGGCTTGTGAGCCACTTCGTGGAG
GAGTTCAAGAGGAAACACAAAAAGGACATCAGCCAGAACAAGCGAGCCGTGAGGCGGCTGCGCACCGCCTGCGAGAGGGCCAAGAGGACCCTGTCGTCCAGCACC
CAGGCCAACCTAGAAATTGATTCACTTTATGAAGGCATTGACTTCTATACATCCATCACCAGAGCTCGATTTGAAGAGTTGTGTGCAGACCTGTTTAGGGGTACC
CTGGAGCCTGTAGAAAAAGCGCTTCGGGATGCCAAGATGGATAAGGCTAAAATCCATGACATTGTTTTAGTAGGGGGCTCCACCCGCATCCCCAAGGTGCAGCGG
CTGCTTCAGGACTACTTCAATGGACGTGATCTCAACAAGAGCATCAACCCTGATGAGGCCGTAGCATATGGGGCTGCGGTACAAGCAGCCATCCTGATGGGGGAC
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>HSPA1L|3305|protein
MATAKGIAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQVAMNPQNTVFDAKRLIGRKFNDPVVQADMKLWPFQVINEGGKPKV
LVSYKGENKAFYPEEISSMVLTKLKETAEAFLGHPVTNAVITVPAYFNDSQRQATKDAGVIAGLNVLRIINEPTAAAIAYGLDKGGQGERHVLIFDLGGGTFDVS
ILTIDDGIFEVKATAGDTHLGGEDFDNRLVSHFVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQANLEIDSLYEGIDFYTSITRARFEELCADLFRGT
LEPVEKALRDAKMDKAKIHDIVLVGGSTRIPKVQRLLQDYFNGRDLNKSINPDEAVAYGAAVQAAILMGDKSEKVQDLLLLDVAPLSLGLETAGGVMTALIKRNS
TIPTKQTQIFTTYSDNQPGVLIQVYEGERAMTKDNNLLGRFDLTGIPPAPRGVPQIEVTFDIDANGILNVTATDKSTGKVNKITITNDKGRLSKEEIERMVLDAE
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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) 1 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top