Evidence Details for SMC3
Basic Information Top
Gene Symbol: | SMC3 ( BAM,BMH,CDLS3,CSPG6,HCAP,SMC3L1 ) |
---|---|
Gene Full Name: | structural maintenance of chromosomes 3 |
Band: | 10q25.2 |
Quick Links | Entrez ID:9126; OMIM: 606062; Uniprot ID:SMC3_HUMAN; ENSEMBL ID: ENSG00000108055; HGNC ID: 2468 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SMC3|9126|nucleotide
ATGTACATAAAGCAGGTGATTATCCAGGGTTTTCGAAGTTACAGAGATCAAACAATTGTAGATCCCTTCAGTTCAAAACATAATGTGATTGTGGGCAGAAATGGA
TCTGGAAAAAGTAACTTTTTTTATGCAATTCAGTTTGTTCTCAGTGATGAGTTTAGTCATCTTCGTCCAGAACAGCGGTTGGCTTTATTGCATGAAGGTACTGGT
CCTCGTGTTATTTCTGCTTTTGTGGAGATTATTTTTGATAATTCAGACAACCGGTTACCAATCGATAAAGAGGAAGTTTCACTTCGAAGAGTTATTGGTGCCAAA
AAGGATCAGTATTTCTTAGACAAGAAGATGGTCACGAAAAATGATGTGATGAACCTCCTTGAAAGCGCTGGTTTTTCTCGAAGCAATCCTTATTATATTGTTAAA
CAAGGAAAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGC
ATCTCCTTAATGAAAGAAACAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTACATACTCTAGAGGAAGAAAAGGAAGAACTA
GCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGCTTTCTGCTAAG
CGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAGCAGGATGCAAGAGATAAAATGGAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAA
ATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAA
CTAGCAGGCAATAGTGAACAAAGGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAACCCAAA
TTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCTAGATTGGCTCAAGCTACCCAGGAAAGAACGGATCTTTATGCAAAGCAGGGTCGAGGAAGCCAGTTT
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ATGTACATAAAGCAGGTGATTATCCAGGGTTTTCGAAGTTACAGAGATCAAACAATTGTAGATCCCTTCAGTTCAAAACATAATGTGATTGTGGGCAGAAATGGA
TCTGGAAAAAGTAACTTTTTTTATGCAATTCAGTTTGTTCTCAGTGATGAGTTTAGTCATCTTCGTCCAGAACAGCGGTTGGCTTTATTGCATGAAGGTACTGGT
CCTCGTGTTATTTCTGCTTTTGTGGAGATTATTTTTGATAATTCAGACAACCGGTTACCAATCGATAAAGAGGAAGTTTCACTTCGAAGAGTTATTGGTGCCAAA
AAGGATCAGTATTTCTTAGACAAGAAGATGGTCACGAAAAATGATGTGATGAACCTCCTTGAAAGCGCTGGTTTTTCTCGAAGCAATCCTTATTATATTGTTAAA
CAAGGAAAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGC
ATCTCCTTAATGAAAGAAACAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTACATACTCTAGAGGAAGAAAAGGAAGAACTA
GCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGCTTTCTGCTAAG
CGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAGCAGGATGCAAGAGATAAAATGGAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAA
ATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAA
CTAGCAGGCAATAGTGAACAAAGGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAACCCAAA
TTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCTAGATTGGCTCAAGCTACCCAGGAAAGAACGGATCTTTATGCAAAGCAGGGTCGAGGAAGCCAGTTT
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>SMC3|9126|protein
MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEGTGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAK
KDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEEL
AQYQKWDKMRRALEYTIYNQELNETRAKLDELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIKQRTKLELKAKDLQDE
LAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEERGIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL
EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQQALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGIN
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MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEGTGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAK
KDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEEL
AQYQKWDKMRRALEYTIYNQELNETRAKLDELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIKQRTKLELKAKDLQDE
LAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEERGIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL
EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQQALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGIN
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
Stessman HA, 2017 | 6342 | - | 74 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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