AutismKB 2.0

Evidence Details for SPARCL1


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Basic Information Top
Gene Symbol:SPARCL1 ( PIG33,SC1 )
Gene Full Name: SPARC-like 1 (hevin)
Band: 4q22.1
Quick LinksEntrez ID:8404; OMIM: 606041; Uniprot ID:SPRL1_HUMAN; ENSEMBL ID: ENSG00000152583; HGNC ID: 11220
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPARCL1|8404|nucleotide
ATGAAGACTGGGCTTTTTTTCCTATGTCTCTTGGGAACTGCAGCTGCAATCCCGACAAATGCAAGATTATTATCTGATCATTCCAAACCAACTGCTGAAACGGTA
GCACCTGACAACACTGCAATCCCCAGTTTAAGGGCTGAAGCTGAAGAAAATGAAAAAGAAACAGCAGTATCCACAGAAGACGATTCCCACCATAAGGCTGAAAAA
TCATCAGTACTAAAGTCAAAAGAGGAAAGCCATGAACAGTCAGCAGAACAGGGCAAGAGTTCTAGCCAAGAGCTGGGATTGAAGGATCAAGAGGACAGTGATGGT
CACTTAAGTGTGAATTTGGAGTATGCACCAACTGAAGGTACATTGGACATAAAAGAAGATATGAGTGAGCCTCAGGAGAAAAAACTCTCAGAGAACACTGATTTT
TTGGCTCCTGGTGTTAGTTCCTTCACAGATTCTAACCAACAAGAAAGTATCACAAAGAGAGAGGAAAACCAAGAACAACCTAGAAATTATTCACATCATCAGTTG
AACAGGAGCAGTAAACATAGCCAAGGCCTAAGGGATCAAGGAAACCAAGAGCAGGATCCAAATATTTCCAATGGAGAAGAGGAAGAAGAAAAAGAGCCAGGTGAA
GTTGGTACCCACAATGATAACCAAGAAAGAAAGACAGAATTGCCCAGGGAGCATGCTAACAGCAAGCAGGAGGAAGACAATACCCAATCTGATGATATTTTGGAA
GAGTCTGATCAACCAACTCAAGTAAGCAAGATGCAGGAGGATGAATTTGATCAGGGTAACCAAGAACAAGAAGATAACTCCAATGCAGAAATGGAAGAGGAAAAT
GCATCGAACGTCAATAAGCACATTCAAGAAACTGAATGGCAGAGTCAAGAGGGTAAAACTGGCCTAGAAGCTATCAGCAACCACAAAGAGACAGAAGAAAAGACT
GTTTCTGAGGCTCTGCTCATGGAACCTACTGATGATGGTAATACCACGCCCAGAAATCATGGAGTTGATGATGATGGCGATGATGATGGCGATGATGGCGGCACT
GATGGCCCCAGGCACAGTGCAAGTGATGACTACTTCATCCCAAGCCAGGCCTTTCTGGAGGCCGAGAGAGCTCAATCCATTGCCTATCACCTCAAAATTGAGGAG
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>SPARCL1|8404|protein
MKTGLFFLCLLGTAAAIPTNARLLSDHSKPTAETVAPDNTAIPSLRAEAEENEKETAVSTEDDSHHKAEKSSVLKSKEESHEQSAEQGKSSSQELGLKDQEDSDG
HLSVNLEYAPTEGTLDIKEDMSEPQEKKLSENTDFLAPGVSSFTDSNQQESITKREENQEQPRNYSHHQLNRSSKHSQGLRDQGNQEQDPNISNGEEEEEKEPGE
VGTHNDNQERKTELPREHANSKQEEDNTQSDDILEESDQPTQVSKMQEDEFDQGNQEQEDNSNAEMEEENASNVNKHIQETEWQSQEGKTGLEAISNHKETEEKT
VSEALLMEPTDDGNTTPRNHGVDDDGDDDGDDGGTDGPRHSASDDYFIPSQAFLEAERAQSIAYHLKIEEQREKVHENENIGTTEPGEHQEAKKAENSSNEEETS
SEGNMRVHAVDSCMSFQCKRGHICKADQQGKPHCVCQDPVTCPPTKPLDQVCGTDNQTYASSCHLFATKCRLEGTKKGHQLQLDYFGACKSIPTCTDFEVIQFPL
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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 (1) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top