Evidence Details for SHANK1
Basic Information Top
| Gene Symbol: | SHANK1 ( SPANK-1,SSTRIP,synamon ) |
|---|---|
| Gene Full Name: | SH3 and multiple ankyrin repeat domains 1 |
| Band: | 19q13.33 |
| Quick Links | Entrez ID:50944; OMIM: 604999; Uniprot ID:SHAN1_HUMAN; ENSEMBL ID: ENSG00000161681; HGNC ID: 15474 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SHANK1|50944|nucleotide
ATGACCCACAGCCCCGCGACAAGCGAGGACGAGGAACGCCACAGTGCCAGCGAGTGTCCCGAGGGGGGCTCAGAGTCCGACAGCTCCCCAGACGGGCCAGGTCGA
GGCCCCCGGGGGACCCGGGGCCAGGGCAGTGGGGCACCTGGTAGCCTGGCCTCTGTTAGAGGCCTCCAGGGCCGCTCAATGTCCGTCCCAGACGACGCCCACTTC
AGCATGATGGTCTTCAGGATTGGCATCCCGGACCTGCACCAGACAAAATGCCTTCGCTTCAACCCCGATGCCACCATCTGGACGGCCAAGCAGCAGGTGCTCTGT
GCCCTGAGCGAGAGCCTGCAGGATGTGCTCAACTATGGCCTGTTCCAACCGGCCACCTCCGGCCGCGATGCCAACTTCCTGGAGGAGGAGAGGCTGCTGCGGGAG
TACCCCCAGTCCTTTGAGAAGGGGGTCCCCTACCTGGAGTTCCGATACAAGACCCGAGTTTACAAACAGACCAACCTGGATGAGAAGCAGCTGGCCAAGTTGCAC
ACGAAGACGGGGTTGAAGAAGTTCCTGGAGTATGTGCAGCTCGGGACATCTGACAAGGTGGCGCGGCTGCTGGACAAGGGGCTGGACCCCAATTACCATGACTCG
GATTCGGGAGAGACCCCCTTGACACTGGCGGCCCAGACCGAAGGCTCTGTAGAGGTGATTCGAACCCTGTGCCTGGGCGGGGCCCACATTGACTTCCGGGCCCGG
GATGGCATGACCGCACTGCATAAGGCCGCATGCGCCCGACACTGCCTGGCACTCACGGCGCTCCTGGACCTTGGGGGTTCCCCCAACTACAAGGACCGTCGGGGG
CTGACCCCTCTGTTCCACACGGCCATGGTGGGTGGTGACCCCCGATGCTGCGAGCTGCTCCTGTTCAACAGGGCCCAGCTGGGCATAGCTGATGAGAACGGCTGG
CAGGAAATCCACCAGGCCTGCCAGCGGGGTCACTCTCAGCACCTGGAGCATCTGCTTTTCTACGGGGCTGAGCCTGGAGCCCAGAACGCCTCGGGGAACACGGCT
CTGCACATCTGCGCCCTCTACAACAAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAG
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ATGACCCACAGCCCCGCGACAAGCGAGGACGAGGAACGCCACAGTGCCAGCGAGTGTCCCGAGGGGGGCTCAGAGTCCGACAGCTCCCCAGACGGGCCAGGTCGA
GGCCCCCGGGGGACCCGGGGCCAGGGCAGTGGGGCACCTGGTAGCCTGGCCTCTGTTAGAGGCCTCCAGGGCCGCTCAATGTCCGTCCCAGACGACGCCCACTTC
AGCATGATGGTCTTCAGGATTGGCATCCCGGACCTGCACCAGACAAAATGCCTTCGCTTCAACCCCGATGCCACCATCTGGACGGCCAAGCAGCAGGTGCTCTGT
GCCCTGAGCGAGAGCCTGCAGGATGTGCTCAACTATGGCCTGTTCCAACCGGCCACCTCCGGCCGCGATGCCAACTTCCTGGAGGAGGAGAGGCTGCTGCGGGAG
TACCCCCAGTCCTTTGAGAAGGGGGTCCCCTACCTGGAGTTCCGATACAAGACCCGAGTTTACAAACAGACCAACCTGGATGAGAAGCAGCTGGCCAAGTTGCAC
ACGAAGACGGGGTTGAAGAAGTTCCTGGAGTATGTGCAGCTCGGGACATCTGACAAGGTGGCGCGGCTGCTGGACAAGGGGCTGGACCCCAATTACCATGACTCG
GATTCGGGAGAGACCCCCTTGACACTGGCGGCCCAGACCGAAGGCTCTGTAGAGGTGATTCGAACCCTGTGCCTGGGCGGGGCCCACATTGACTTCCGGGCCCGG
GATGGCATGACCGCACTGCATAAGGCCGCATGCGCCCGACACTGCCTGGCACTCACGGCGCTCCTGGACCTTGGGGGTTCCCCCAACTACAAGGACCGTCGGGGG
CTGACCCCTCTGTTCCACACGGCCATGGTGGGTGGTGACCCCCGATGCTGCGAGCTGCTCCTGTTCAACAGGGCCCAGCTGGGCATAGCTGATGAGAACGGCTGG
CAGGAAATCCACCAGGCCTGCCAGCGGGGTCACTCTCAGCACCTGGAGCATCTGCTTTTCTACGGGGCTGAGCCTGGAGCCCAGAACGCCTCGGGGAACACGGCT
CTGCACATCTGCGCCCTCTACAACAAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAG
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>SHANK1|50944|protein
MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLC
ALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGLKKFLEYVQLGTSDKVARLLDKGLDPNYHDS
DSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGW
QEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKETCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARR
RGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPRE
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MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLC
ALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGLKKFLEYVQLGTSDKVARLLDKGLDPNYHDS
DSGETPLTLAAQTEGSVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELLLFNRAQLGIADENGW
QEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKETCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARR
RGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPRE
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Evidence summary TopClick 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) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 1 (1) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| C Yuen RK, 2017 | - | WGS |  | | ASD | - | - | - | - | 1745 | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Spence, 2006 | USA | microsatellite-based genomic screen | | | ASD | 133 | - | 133 | - | 280 | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Krumm N, 2015 | 2377 | 1373 | 77 | Excess of rare, inherited truncating mutations in autism |
| Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Wang T, 2016 | China | Illumina HiSeq 2000 |  | | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.