AutismKB 2.0

Evidence Details for SBSN


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Basic Information Top
Gene Symbol:SBSN ( MGC75533,UNQ698 )
Gene Full Name: suprabasin
Band: 19q13.13
Quick LinksEntrez 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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>SBSN|374897|protein
MHLARLVGSCSLLLLLGALSGWAASDDPIEKVIEGINRGLSNAEREVGKALDGINSGITHAGREVEKVFNGLSNMGSHTGKELDKGVQGLNHGMDKVAHEINHGI
GQAGKEAEKLGHGVNNAAGQVGKEADKLIHHGVHHGANQAGSEAGKFGQGVDNAAGQAGNEAGRFGQGVHHAAGQAGNEAGRFGQGVHHAAGQAGNEAGRFGQGA
HHGLSEGWKETEKFGQGIHHAAGQVGKEAEKFGQGAHHAAGQAGNEAGRFGQGVHHGLSEGWKETEKFGQGVHHTAGQVGKEAEKFGQGAHHAAGQAGNEAGRFG
QGAHHAAGQAGNEAGRFGQGVHHGLSEGWKETEKFGQGVHHAASQFGKETEKLGHGVHHGVNEAWKEAEKFGQGVHHAASQVGKEEDRVVQGLHHGVSQAGREAG
QFGHDIHHTAGQAGKEGDIAVHGVQPGVHEAGKEAGQFGQGVHHTLEQAGKEADKAVQGFHTGVHQAGKEAEKLGQGVNHAADQAGKEVEKLGQGAHHAAGQAGK
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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) 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