Evidence Details for STRN3
Basic Information Top
Gene Symbol: | STRN3 ( SG2NA ) |
---|---|
Gene Full Name: | striatin, calmodulin binding protein 3 |
Band: | 14q12 |
Quick Links | Entrez ID:29966; OMIM: NA; Uniprot ID:STRN3_HUMAN; ENSEMBL ID: ENSG00000196792; HGNC ID: 15720 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>STRN3|29966|nucleotide
ATGGACGAGCTTGCCGGAGGCGGTGGTGGCGGCCCGGGGATGGCGGCCCCTCCCCGGCAGCAGCAGGGACCTGGGGGGAACCTGGGCCTTTCGCCCGGGGGGAAC
GGAGCGGCGGGCGGCGGGGGTCCTCCGGCCTCCGAGGGAGCGGGTCCCGCGGCAGGCCCCGAGCTGTCCCGGCCGCAGCAGTACACTATCCCGGGGATACTGCAC
TACATCCAGCACGAGTGGGCTCGGTTCGAGATGGAGCGGGCGCACTGGGAGGTGGAACGGGCCGAACTGCAGGCCCGGATTGCATTTCTACAAGGCGAAAGAAAA
GGTCAAGAGAACCTGAAGAAGGACTTAGTAAGAAGAATAAAGATGTTAGAGTATGCATTAAAACAAGAAAGGGCAAAATATCACAAATTAAAATATGGCACGGAA
CTGAACCAAGGTGACTTGAAAATGCCAACCTTTGAGTCAGAAGAAACCAAAGACACAGAGGCTCCCACAGCACCTCAGAATAGCCAGTTAACGTGGAAGCAAGGC
AGACAGCTTTTAAGACAGTATCTTCAGGAAGTAGGTTATACAGATACAATATTAGATGTACGGTCTCAGCGGGTAAGGTCATTACTTGGACTATCTAATTCAGAA
CCAAATGGATCAGTAGAAACAAAGAATTTAGAACAGATCCTGAATGGAGGTGAATCTCCTAAGCAAAAGGGACAAGAAATAAAAAGGTCCTCTGGTGATGTTCTT
GAGACGTTCAATTTCTTAGAAAATGCCGATGACAGTGATGAAGATGAGGAAAATGACATGATCGAAGGCATCCCAGAAGGAAAAGACAAACATCGGATGAATAAA
CATAAAATAGGTAATGAAGGTTTAGCTGCTGACCTAACTGACGATCCTGATACTGAGGAAGCACTGAAAGAATTTGATTTTTTAGTGACTGCTGAAGATGGTGAA
GGAGCTGGAGAAGCACGGAGTTCGGGGGATGGCACAGAATGGGATAAAGATGACCTCTCCCCAACTGCTGAGGTTTGGGATGTAGACCAGGGACTAATAAGTAAA
CTGAAGGAACAGTACAAGAAGGAACGAAAGGGGAAGAAAGGGGTGAAGAGGGCCAACAGGACAAAACTCTACGACATGATAGCTGATCTGGGAGATGATGAGCTG
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ATGGACGAGCTTGCCGGAGGCGGTGGTGGCGGCCCGGGGATGGCGGCCCCTCCCCGGCAGCAGCAGGGACCTGGGGGGAACCTGGGCCTTTCGCCCGGGGGGAAC
GGAGCGGCGGGCGGCGGGGGTCCTCCGGCCTCCGAGGGAGCGGGTCCCGCGGCAGGCCCCGAGCTGTCCCGGCCGCAGCAGTACACTATCCCGGGGATACTGCAC
TACATCCAGCACGAGTGGGCTCGGTTCGAGATGGAGCGGGCGCACTGGGAGGTGGAACGGGCCGAACTGCAGGCCCGGATTGCATTTCTACAAGGCGAAAGAAAA
GGTCAAGAGAACCTGAAGAAGGACTTAGTAAGAAGAATAAAGATGTTAGAGTATGCATTAAAACAAGAAAGGGCAAAATATCACAAATTAAAATATGGCACGGAA
CTGAACCAAGGTGACTTGAAAATGCCAACCTTTGAGTCAGAAGAAACCAAAGACACAGAGGCTCCCACAGCACCTCAGAATAGCCAGTTAACGTGGAAGCAAGGC
AGACAGCTTTTAAGACAGTATCTTCAGGAAGTAGGTTATACAGATACAATATTAGATGTACGGTCTCAGCGGGTAAGGTCATTACTTGGACTATCTAATTCAGAA
CCAAATGGATCAGTAGAAACAAAGAATTTAGAACAGATCCTGAATGGAGGTGAATCTCCTAAGCAAAAGGGACAAGAAATAAAAAGGTCCTCTGGTGATGTTCTT
GAGACGTTCAATTTCTTAGAAAATGCCGATGACAGTGATGAAGATGAGGAAAATGACATGATCGAAGGCATCCCAGAAGGAAAAGACAAACATCGGATGAATAAA
CATAAAATAGGTAATGAAGGTTTAGCTGCTGACCTAACTGACGATCCTGATACTGAGGAAGCACTGAAAGAATTTGATTTTTTAGTGACTGCTGAAGATGGTGAA
GGAGCTGGAGAAGCACGGAGTTCGGGGGATGGCACAGAATGGGATAAAGATGACCTCTCCCCAACTGCTGAGGTTTGGGATGTAGACCAGGGACTAATAAGTAAA
CTGAAGGAACAGTACAAGAAGGAACGAAAGGGGAAGAAAGGGGTGAAGAGGGCCAACAGGACAAAACTCTACGACATGATAGCTGATCTGGGAGATGATGAGCTG
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>STRN3|29966|protein
MDELAGGGGGGPGMAAPPRQQQGPGGNLGLSPGGNGAAGGGGPPASEGAGPAAGPELSRPQQYTIPGILHYIQHEWARFEMERAHWEVERAELQARIAFLQGERK
GQENLKKDLVRRIKMLEYALKQERAKYHKLKYGTELNQGDLKMPTFESEETKDTEAPTAPQNSQLTWKQGRQLLRQYLQEVGYTDTILDVRSQRVRSLLGLSNSE
PNGSVETKNLEQILNGGESPKQKGQEIKRSSGDVLETFNFLENADDSDEDEENDMIEGIPEGKDKHRMNKHKIGNEGLAADLTDDPDTEEALKEFDFLVTAEDGE
GAGEARSSGDGTEWDKDDLSPTAEVWDVDQGLISKLKEQYKKERKGKKGVKRANRTKLYDMIADLGDDELPHIPSGIINQSRSASTRMTDHEGARAEEAEPITFP
SGGGKSFIMGSDDVLLSVLGLGDLADLTVTNDADYSYDLPANKDAFRKTWNPKYTLRSHFDGVRALAFHPVEPVLVTASEDHTLKLWNLQKTVPAKKSASLDVEP
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MDELAGGGGGGPGMAAPPRQQQGPGGNLGLSPGGNGAAGGGGPPASEGAGPAAGPELSRPQQYTIPGILHYIQHEWARFEMERAHWEVERAELQARIAFLQGERK
GQENLKKDLVRRIKMLEYALKQERAKYHKLKYGTELNQGDLKMPTFESEETKDTEAPTAPQNSQLTWKQGRQLLRQYLQEVGYTDTILDVRSQRVRSLLGLSNSE
PNGSVETKNLEQILNGGESPKQKGQEIKRSSGDVLETFNFLENADDSDEDEENDMIEGIPEGKDKHRMNKHKIGNEGLAADLTDDPDTEEALKEFDFLVTAEDGE
GAGEARSSGDGTEWDKDDLSPTAEVWDVDQGLISKLKEQYKKERKGKKGVKRANRTKLYDMIADLGDDELPHIPSGIINQSRSASTRMTDHEGARAEEAEPITFP
SGGGKSFIMGSDDVLLSVLGLGDLADLTVTNDADYSYDLPANKDAFRKTWNPKYTLRSHFDGVRALAFHPVEPVLVTASEDHTLKLWNLQKTVPAKKSASLDVEP
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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 (0) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bailey, 1998 | - | microsatellite-based genomic screen | PDD | 99 | - | 99 | - | - | - | - | ||
Auranen, 2002 | Finland | microsatellite-based genomic screen | autism | 19 | - | 19 | - | 54 | - | - | ||
Ma, 2007 | USA | SNP-based genomic screen | autism | 26 | - | 26 | - | - | - | - |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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