Evidence Details for SMOC2
Basic Information Top
| Gene Symbol: | SMOC2 ( MST117,MSTP117,MSTP140,SMAP2,bA270C4A.1,bA37D8.1,dJ421D16.1 ) |
|---|---|
| Gene Full Name: | SPARC related modular calcium binding 2 |
| Band: | 6q27 |
| Quick Links | Entrez ID:64094; OMIM: 607223; Uniprot ID:SMOC2_HUMAN; ENSEMBL ID: ENSG00000112562; HGNC ID: 20323 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SMOC2|64094|nucleotide
ATGCTGCTCCCCCAGCTCTGCTGGCTGCCGCTGCTCGCTGGGCTGCTCCCGCCGGTGCCCGCTCAGAAGTTCTCGGCGCTCACGTTTTTGAGAGTGGATCAAGAT
AAAGACAAGGATTGTAGCTTGGACTGTGCGGGTTCGCCCCAGAAACCTCTCTGCGCATCTGACGGAAGGACCTTCCTTTCCCGTTGTGAATTTCAACGTGCCAAG
TGCAAAGATCCCCAGCTAGAGATTGCATATCGAGGAAACTGCAAAGACGTGTCCAGGTGTGTGGCCGAAAGGAAGTATACCCAGGAGCAAGCCCGGAAGGAGTTT
CAGCAAGTGTTCATTCCTGAGTGCAATGACGACGGCACCTACAGTCAGGTCCAGTGTCACAGCTACACGGGATACTGCTGGTGCGTCACGCCCAACGGGAGGCCC
ATCAGCGGCACTGCCGTGGCCCACAAGACGCCCCGGTGCCCGGGTTCCGTAAATGAAAAGTTACCCCAACGCGAAGGCACAGGAAAAACAGATGATGCCGCAGCT
CCAGCGTTGGAGACTCAGCCTCAAGGAGATGAAGAAGATATTGCATCACGTTACCCTACCCTTTGGACTGAACAGGTTAAAAGTCGGCAGAACAAAACCAATAAG
AATTCAGTGTCATCCTGTGACCAAGAGCACCAGTCTGCCCTGGAGGAAGCCAAGCAGCCCAAGAACGACAATGTGGTGATCCCTGAGTGTGCGCACGGCGGCCTC
TACAAGCCAGTGCAGTGCCACCCCTCCACGGGGTACTGCTGGTGCGTCCTGGTGGACACGGGGCGCCCCATTCCCGGCACATCCACAAGGTACGAGCAGCCGAAA
TGTGACAACACGGCCAGGGCCCACCCAGCCAAAGCCCGGGACCTGTACAAGGGCCGCCAGCTACAAGGTTGTCCGGGTGCCAAAAAGCATGAGTTTCTGACCAGC
GTTCTGGACGCGCTGTCCACGGACATGGTCCACGCCGCCTCCGACCCCTCCTCCTCGTCAGGCAGGCTCTCAGAACCCGACCCCAGCCATACCCTAGAGGAGCGG
GTGGTGCACTGGTACTTCAAACTACTGGATAAAAACTCCAGTGGAGACATCGGCAAAAAGGAAATCAAACCCTTCAAGAGGTTCCTTCGCAAAAAATCAAAGCCC
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ATGCTGCTCCCCCAGCTCTGCTGGCTGCCGCTGCTCGCTGGGCTGCTCCCGCCGGTGCCCGCTCAGAAGTTCTCGGCGCTCACGTTTTTGAGAGTGGATCAAGAT
AAAGACAAGGATTGTAGCTTGGACTGTGCGGGTTCGCCCCAGAAACCTCTCTGCGCATCTGACGGAAGGACCTTCCTTTCCCGTTGTGAATTTCAACGTGCCAAG
TGCAAAGATCCCCAGCTAGAGATTGCATATCGAGGAAACTGCAAAGACGTGTCCAGGTGTGTGGCCGAAAGGAAGTATACCCAGGAGCAAGCCCGGAAGGAGTTT
CAGCAAGTGTTCATTCCTGAGTGCAATGACGACGGCACCTACAGTCAGGTCCAGTGTCACAGCTACACGGGATACTGCTGGTGCGTCACGCCCAACGGGAGGCCC
ATCAGCGGCACTGCCGTGGCCCACAAGACGCCCCGGTGCCCGGGTTCCGTAAATGAAAAGTTACCCCAACGCGAAGGCACAGGAAAAACAGATGATGCCGCAGCT
CCAGCGTTGGAGACTCAGCCTCAAGGAGATGAAGAAGATATTGCATCACGTTACCCTACCCTTTGGACTGAACAGGTTAAAAGTCGGCAGAACAAAACCAATAAG
AATTCAGTGTCATCCTGTGACCAAGAGCACCAGTCTGCCCTGGAGGAAGCCAAGCAGCCCAAGAACGACAATGTGGTGATCCCTGAGTGTGCGCACGGCGGCCTC
TACAAGCCAGTGCAGTGCCACCCCTCCACGGGGTACTGCTGGTGCGTCCTGGTGGACACGGGGCGCCCCATTCCCGGCACATCCACAAGGTACGAGCAGCCGAAA
TGTGACAACACGGCCAGGGCCCACCCAGCCAAAGCCCGGGACCTGTACAAGGGCCGCCAGCTACAAGGTTGTCCGGGTGCCAAAAAGCATGAGTTTCTGACCAGC
GTTCTGGACGCGCTGTCCACGGACATGGTCCACGCCGCCTCCGACCCCTCCTCCTCGTCAGGCAGGCTCTCAGAACCCGACCCCAGCCATACCCTAGAGGAGCGG
GTGGTGCACTGGTACTTCAAACTACTGGATAAAAACTCCAGTGGAGACATCGGCAAAAAGGAAATCAAACCCTTCAAGAGGTTCCTTCGCAAAAAATCAAAGCCC
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>SMOC2|64094|protein
MLLPQLCWLPLLAGLLPPVPAQKFSALTFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAERKYTQEQARKEF
QQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEKLPQREGTGKTDDAAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNKTNK
NSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDTGRPIPGTSTRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTS
VLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVVHWYFKLLDKNSSGDIGKKEIKPFKRFLRKKSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDG
KADTKKRHTPRGHAESTSNRQPRKQG
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MLLPQLCWLPLLAGLLPPVPAQKFSALTFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAERKYTQEQARKEF
QQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEKLPQREGTGKTDDAAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNKTNK
NSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDTGRPIPGTSTRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTS
VLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVVHWYFKLLDKNSSGDIGKKEIKPFKRFLRKKSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDG
KADTKKRHTPRGHAESTSNRQPRKQG
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Berkel, 2010 | Canada | SNP microarray | ![]() | ![]() | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top



