AutismKB 2.0

Evidence Details for SGCZ


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Basic Information Top
Gene Symbol:SGCZ ( MGC149397,ZSG1 )
Gene Full Name: sarcoglycan, zeta
Band: 8p22
Quick LinksEntrez ID:137868; OMIM: 608113; Uniprot ID:SGCZ_HUMAN; ENSEMBL ID: ENSG00000185053; HGNC ID: 14075
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SGCZ|137868|nucleotide
ATGGACAGATCAACGAACCTGGACATTGAGGAGCTCAAGATGACACGAGAACAATACATACTAGCAACCCAACAGAATAACCTGCCAAGGACTGAGAATGCACAA
CTTTACCCAGTGGGAATTTATGGATGGCGAAAGAGGTGCTTATACTTCTTTGTCCTTCTGCTGTTGGTTACCATGATAGTTAACTTAGCCATGACAATATGGATA
TTGAAAGTTATGAATTTCACTGTGGATGGTATGGGAAATCTGAGAGTCACCAAGAAGGGAATCCGACTTGAAGGTATATCTGAGTTTCTACTTCCATTGTATGTG
AAAGAAATTCATTCTCGAAAGGATAGTCCGCTGGTCTTACAGTCTGACAGGAATGTCACAGTGAATGCAAGAAATCACATGGGGCAGTTAACCGGACAGCTGACC
ATAGGAGCTGATGCTGTGGAAGCTCAGTGTAAAAGATTTGAAGTGAGAGCCAGTGAAGATGGCAGGGTGCTGTTTTCTGCAGATGAAGATGAGATTACCATTGGG
GCTGAAAAGCTGAAAGTTACAGGCACTGAAGGAGCCGTATTTGGGCACTCTGTGGAGACGCCGCACATCAGAGCAGAGCCATCCCAAGATCTCAGGCTTGAATCA
CCCACCAGATCCTTGATCATGGAAGCTCCCCGTGGGGTCCAGGTGAGTGCTGCTGCAGGAGACTTCAAGGCCACCTGCAGGAAGGAGCTCCATCTGCAATCTACA
GAAGGGGAGATATTTTTAAATGCAGAGACAATCAAGCTGGGAAATCTACCAACTGGCTCCTTCTCATCTTCTTCACCCAGCTCCTCAAGTTCTCGACAGACAGTG
TATGAACTCTGCGTCTGCCCCAATGGCAAACTTTACCTTTCTCCAGCAGGAGTAGGTTCCACTTGTCAGTCCAGTAGCAACATCTGCCTGTGGAGCTGA


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>SGCZ|137868|protein
MDRSTNLDIEELKMTREQYILATQQNNLPRTENAQLYPVGIYGWRKRCLYFFVLLLLVTMIVNLAMTIWILKVMNFTVDGMGNLRVTKKGIRLEGISEFLLPLYV
KEIHSRKDSPLVLQSDRNVTVNARNHMGQLTGQLTIGADAVEAQCKRFEVRASEDGRVLFSADEDEITIGAEKLKVTGTEGAVFGHSVETPHIRAEPSQDLRLES
PTRSLIMEAPRGVQVSAAAGDFKATCRKELHLQSTEGEIFLNAETIKLGNLPTGSFSSSSPSSSSSRQTVYELCVCPNGKLYLSPAGVGSTCQSSSNICLWS


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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 (1) 1 (4) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 5 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top