Evidence Details for SBSN
Basic Information Top
Gene Symbol: | SBSN ( MGC75533,UNQ698 ) |
---|---|
Gene Full Name: | suprabasin |
Band: | 19q13.13 |
Quick Links | Entrez ID:374897; OMIM: 609969; Uniprot ID:SBSN_HUMAN; ENSEMBL ID: ENSG00000189001; HGNC ID: 24950 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SBSN|374897|nucleotide
ATGCATCTTGCACGTCTGGTCGGCTCCTGCTCCCTCCTTCTGCTACTGGGGGCCCTGTCTGGATGGGCGGCCAGCGATGACCCCATTGAGAAGGTCATTGAAGGG
ATCAACCGAGGGCTGAGCAATGCAGAGAGAGAGGTGGGCAAGGCCCTGGATGGCATCAACAGTGGAATCACGCATGCCGGAAGGGAAGTGGAGAAGGTTTTCAAC
GGACTTAGCAACATGGGGAGCCACACCGGCAAGGAGTTGGACAAAGGCGTCCAGGGGCTCAACCACGGCATGGACAAGGTTGCCCATGAGATCAACCATGGTATT
GGACAAGCAGGAAAGGAAGCAGAGAAGCTTGGCCATGGGGTCAACAACGCTGCTGGACAGGTTGGGAAGGAGGCAGACAAACTGATCCATCATGGGGTCCATCAC
GGGGCCAACCAGGCGGGAAGTGAGGCAGGGAAGTTTGGCCAGGGAGTCGACAATGCTGCAGGGCAGGCTGGAAATGAGGCTGGGAGGTTTGGCCAGGGAGTCCAC
CATGCTGCAGGGCAGGCCGGAAATGAGGCTGGGAGGTTTGGCCAGGGAGTCCACCATGCTGCAGGGCAGGCCGGAAATGAGGCTGGGAGATTTGGCCAGGGGGCC
CACCATGGTCTCAGTGAGGGCTGGAAGGAGACAGAGAAGTTTGGCCAGGGGATCCACCATGCTGCCGGTCAGGTTGGGAAGGAGGCAGAGAAGTTTGGCCAGGGG
GCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCAGGGAGATTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGCTGGAAGGAGACAGAGAAGTTTGGCCAG
GGGGTCCACCATACTGCTGGTCAGGTTGGGAAGGAGGCAGAGAAGTTTGGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCAGGGAGATTTGGC
CAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCTGGGAGGTTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGCTGGAAGGAGACAGAGAAGTTT
GGCCAGGGGGTCCACCATGCTGCCAGTCAGTTTGGGAAGGAAACAGAGAAGCTCGGCCATGGGGTCCACCATGGGGTTAATGAGGCCTGGAAGGAAGCAGAGAAG
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ATGCATCTTGCACGTCTGGTCGGCTCCTGCTCCCTCCTTCTGCTACTGGGGGCCCTGTCTGGATGGGCGGCCAGCGATGACCCCATTGAGAAGGTCATTGAAGGG
ATCAACCGAGGGCTGAGCAATGCAGAGAGAGAGGTGGGCAAGGCCCTGGATGGCATCAACAGTGGAATCACGCATGCCGGAAGGGAAGTGGAGAAGGTTTTCAAC
GGACTTAGCAACATGGGGAGCCACACCGGCAAGGAGTTGGACAAAGGCGTCCAGGGGCTCAACCACGGCATGGACAAGGTTGCCCATGAGATCAACCATGGTATT
GGACAAGCAGGAAAGGAAGCAGAGAAGCTTGGCCATGGGGTCAACAACGCTGCTGGACAGGTTGGGAAGGAGGCAGACAAACTGATCCATCATGGGGTCCATCAC
GGGGCCAACCAGGCGGGAAGTGAGGCAGGGAAGTTTGGCCAGGGAGTCGACAATGCTGCAGGGCAGGCTGGAAATGAGGCTGGGAGGTTTGGCCAGGGAGTCCAC
CATGCTGCAGGGCAGGCCGGAAATGAGGCTGGGAGGTTTGGCCAGGGAGTCCACCATGCTGCAGGGCAGGCCGGAAATGAGGCTGGGAGATTTGGCCAGGGGGCC
CACCATGGTCTCAGTGAGGGCTGGAAGGAGACAGAGAAGTTTGGCCAGGGGATCCACCATGCTGCCGGTCAGGTTGGGAAGGAGGCAGAGAAGTTTGGCCAGGGG
GCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCAGGGAGATTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGCTGGAAGGAGACAGAGAAGTTTGGCCAG
GGGGTCCACCATACTGCTGGTCAGGTTGGGAAGGAGGCAGAGAAGTTTGGCCAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCAGGGAGATTTGGC
CAGGGGGCCCACCATGCTGCGGGGCAGGCCGGAAATGAGGCTGGGAGGTTTGGCCAGGGGGTCCACCATGGTCTCAGTGAGGGCTGGAAGGAGACAGAGAAGTTT
GGCCAGGGGGTCCACCATGCTGCCAGTCAGTTTGGGAAGGAAACAGAGAAGCTCGGCCATGGGGTCCACCATGGGGTTAATGAGGCCTGGAAGGAAGCAGAGAAG
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>SBSN|374897|protein
MHLARLVGSCSLLLLLGALSGWAASDDPIEKVIEGINRGLSNAEREVGKALDGINSGITHAGREVEKVFNGLSNMGSHTGKELDKGVQGLNHGMDKVAHEINHGI
GQAGKEAEKLGHGVNNAAGQVGKEADKLIHHGVHHGANQAGSEAGKFGQGVDNAAGQAGNEAGRFGQGVHHAAGQAGNEAGRFGQGVHHAAGQAGNEAGRFGQGA
HHGLSEGWKETEKFGQGIHHAAGQVGKEAEKFGQGAHHAAGQAGNEAGRFGQGVHHGLSEGWKETEKFGQGVHHTAGQVGKEAEKFGQGAHHAAGQAGNEAGRFG
QGAHHAAGQAGNEAGRFGQGVHHGLSEGWKETEKFGQGVHHAASQFGKETEKLGHGVHHGVNEAWKEAEKFGQGVHHAASQVGKEEDRVVQGLHHGVSQAGREAG
QFGHDIHHTAGQAGKEGDIAVHGVQPGVHEAGKEAGQFGQGVHHTLEQAGKEADKAVQGFHTGVHQAGKEAEKLGQGVNHAADQAGKEVEKLGQGAHHAAGQAGK
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MHLARLVGSCSLLLLLGALSGWAASDDPIEKVIEGINRGLSNAEREVGKALDGINSGITHAGREVEKVFNGLSNMGSHTGKELDKGVQGLNHGMDKVAHEINHGI
GQAGKEAEKLGHGVNNAAGQVGKEADKLIHHGVHHGANQAGSEAGKFGQGVDNAAGQAGNEAGRFGQGVHHAAGQAGNEAGRFGQGVHHAAGQAGNEAGRFGQGA
HHGLSEGWKETEKFGQGIHHAAGQVGKEAEKFGQGAHHAAGQAGNEAGRFGQGVHHGLSEGWKETEKFGQGVHHTAGQVGKEAEKFGQGAHHAAGQAGNEAGRFG
QGAHHAAGQAGNEAGRFGQGVHHGLSEGWKETEKFGQGVHHAASQFGKETEKLGHGVHHGVNEAWKEAEKFGQGVHHAASQVGKEEDRVVQGLHHGVSQAGREAG
QFGHDIHHTAGQAGKEGDIAVHGVQPGVHEAGKEAGQFGQGVHHTLEQAGKEADKAVQGFHTGVHQAGKEAEKLGQGVNHAADQAGKEVEKLGQGAHHAAGQAGK
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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 (0) | 0 (1) | 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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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