Evidence Details for SGCZ
Basic Information Top
| Gene Symbol: | SGCZ ( MGC149397,ZSG1 ) |
|---|---|
| Gene Full Name: | sarcoglycan, zeta |
| Band: | 8p22 |
| Quick Links | Entrez 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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ATGGACAGATCAACGAACCTGGACATTGAGGAGCTCAAGATGACACGAGAACAATACATACTAGCAACCCAACAGAATAACCTGCCAAGGACTGAGAATGCACAA
CTTTACCCAGTGGGAATTTATGGATGGCGAAAGAGGTGCTTATACTTCTTTGTCCTTCTGCTGTTGGTTACCATGATAGTTAACTTAGCCATGACAATATGGATA
TTGAAAGTTATGAATTTCACTGTGGATGGTATGGGAAATCTGAGAGTCACCAAGAAGGGAATCCGACTTGAAGGTATATCTGAGTTTCTACTTCCATTGTATGTG
AAAGAAATTCATTCTCGAAAGGATAGTCCGCTGGTCTTACAGTCTGACAGGAATGTCACAGTGAATGCAAGAAATCACATGGGGCAGTTAACCGGACAGCTGACC
ATAGGAGCTGATGCTGTGGAAGCTCAGTGTAAAAGATTTGAAGTGAGAGCCAGTGAAGATGGCAGGGTGCTGTTTTCTGCAGATGAAGATGAGATTACCATTGGG
GCTGAAAAGCTGAAAGTTACAGGCACTGAAGGAGCCGTATTTGGGCACTCTGTGGAGACGCCGCACATCAGAGCAGAGCCATCCCAAGATCTCAGGCTTGAATCA
CCCACCAGATCCTTGATCATGGAAGCTCCCCGTGGGGTCCAGGTGAGTGCTGCTGCAGGAGACTTCAAGGCCACCTGCAGGAAGGAGCTCCATCTGCAATCTACA
GAAGGGGAGATATTTTTAAATGCAGAGACAATCAAGCTGGGAAATCTACCAACTGGCTCCTTCTCATCTTCTTCACCCAGCTCCTCAAGTTCTCGACAGACAGTG
TATGAACTCTGCGTCTGCCCCAATGGCAAACTTTACCTTTCTCCAGCAGGAGTAGGTTCCACTTGTCAGTCCAGTAGCAACATCTGCCTGTGGAGCTGA
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>SGCZ|137868|protein
MDRSTNLDIEELKMTREQYILATQQNNLPRTENAQLYPVGIYGWRKRCLYFFVLLLLVTMIVNLAMTIWILKVMNFTVDGMGNLRVTKKGIRLEGISEFLLPLYV
KEIHSRKDSPLVLQSDRNVTVNARNHMGQLTGQLTIGADAVEAQCKRFEVRASEDGRVLFSADEDEITIGAEKLKVTGTEGAVFGHSVETPHIRAEPSQDLRLES
PTRSLIMEAPRGVQVSAAAGDFKATCRKELHLQSTEGEIFLNAETIKLGNLPTGSFSSSSPSSSSSRQTVYELCVCPNGKLYLSPAGVGSTCQSSSNICLWS
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MDRSTNLDIEELKMTREQYILATQQNNLPRTENAQLYPVGIYGWRKRCLYFFVLLLLVTMIVNLAMTIWILKVMNFTVDGMGNLRVTKKGIRLEGISEFLLPLYV
KEIHSRKDSPLVLQSDRNVTVNARNHMGQLTGQLTIGADAVEAQCKRFEVRASEDGRVLFSADEDEITIGAEKLKVTGTEGAVFGHSVETPHIRAEPSQDLRLES
PTRSLIMEAPRGVQVSAAAGDFKATCRKELHLQSTEGEIFLNAETIKLGNLPTGSFSSSSPSSSSSRQTVYELCVCPNGKLYLSPAGVGSTCQSSSNICLWS
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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 (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 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Ozgen, 2009 | - | aCGH, SNP microarray | ![]() | ![]() | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | ![]() | ![]() | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top



