AutismKB 2.0

Evidence Details for SORCS3


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Basic Information Top
Gene Symbol:SORCS3 ( SORCS )
Gene Full Name: sortilin-related VPS10 domain containing receptor 3
Band: 10q25.1
Quick LinksEntrez ID:22986; OMIM: 606285; Uniprot ID:SORC3_HUMAN; ENSEMBL ID: ENSG00000156395; HGNC ID: 16699
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SORCS3|22986|nucleotide
ATGGAGGCGGCGCGCACGGAGCGCCCCGCAGGCAGGCCGGGGGCGCCGCTTGTCCGGACGGGGCTCCTACTCTTGTCGACGTGGGTCCTGGCCGGCGCCGAGATC
ACTTGGGACGCGACAGGCGGTCCCGGACGCCCGGCGGCCCCGGCTTCGCGGCCACCGGCGTTGTCTCCACTCTCGCCGCGGGCAGTGGCCAGCCAGTGGCCGGAG
GAGCTGGCGTCGGCGCGGAGAGCCGCCGTGCTGGGGCGCCGGGCCGGACCAGAGCTGCTGCCCCAGCAGGGCGGCGGCAGAGGCGGTGAGATGCAGGTGGAAGCC
GGAGGGACATCACCGGCAGGCGAGCGGCGGGGCCGGGGCATCCCAGCTCCTGCCAAGCTTGGCGGCGCGAGGAGGAGTCGCCGGGCGCAGCCCCCAATCACCCAG
GAACGCGGGGACGCCTGGGCCACTGCTCCGGCCGATGGTTCCAGAGGAAGCCGTCCCCTTGCTAAGGGTTCCCGGGAGGAGGTGAAGGCGCCGCGGGCTGGGGGG
TCGGCGGCTGAAGACCTCCGGCTGCCCAGCACCTCCTTCGCGCTGACCGGGGACTCGGCCCACAACCAAGCCATGGTGCACTGGTCGGGACACAACAGCAGCGTC
ATACTTATCCTGACGAAGCTGTATGACTTCAACCTGGGCAGCGTGACTGAGAGTTCACTATGGAGGTCGACAGATTATGGCACCACCTATGAAAAGCTGAATGAC
AAAGTGGGTTTGAAGACTGTCCTCAGTTACCTCTATGTCAATCCAACCAACAAAAGGAAGATTATGCTTCTCAGTGATCCTGAGATGGAGAGCAGCATATTGATC
AGCTCAGACGAAGGGGCGACCTATCAGAAGTATCGGCTCACCTTCTATATCCAGAGCCTGCTCTTTCATCCCAAGCAAGAGGACTGGGTGCTGGCCTACAGTTTG
GATCAAAAGCTCTACAGCTCCATGGACTTTGGAAGACGGTGGCAACTCATGCATGAACGCATCACACCCAACAGGTTTTATTGGTCGGTGGCCGGATTGGATAAG
GAGGCGGACCTGGTGCACATGGAGGTGCGGACCACGGATGGATATGCTCACTACCTCACCTGCAGGATCCAGGAATGTGCCGAGACAACTAGAAGTGGGCCTTTT
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>SORCS3|22986|protein
MEAARTERPAGRPGAPLVRTGLLLLSTWVLAGAEITWDATGGPGRPAAPASRPPALSPLSPRAVASQWPEELASARRAAVLGRRAGPELLPQQGGGRGGEMQVEA
GGTSPAGERRGRGIPAPAKLGGARRSRRAQPPITQERGDAWATAPADGSRGSRPLAKGSREEVKAPRAGGSAAEDLRLPSTSFALTGDSAHNQAMVHWSGHNSSV
ILILTKLYDFNLGSVTESSLWRSTDYGTTYEKLNDKVGLKTVLSYLYVNPTNKRKIMLLSDPEMESSILISSDEGATYQKYRLTFYIQSLLFHPKQEDWVLAYSL
DQKLYSSMDFGRRWQLMHERITPNRFYWSVAGLDKEADLVHMEVRTTDGYAHYLTCRIQECAETTRSGPFARSIDISSLVVQDEYIFIQVTTSGRASYYVSYRRE
AFAQIKLPKYSLPKDMHIISTDENQVFAAVQEWNQNDTYNLYISDTRGIYFTLAMENIKSSRGLMGNIIIELYEVAGIKGIFLANKKVDDQVKTYITYNKGRDWR
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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) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Alvarez-Mora MI, 2016 - MicroarrayASD - - - - 44 - -
Linkage Studies Top