AutismKB 2.0

Evidence Details for SPTBN1


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Basic Information Top
Gene Symbol:SPTBN1 ( ELF,SPTB2,betaSpII )
Gene Full Name: spectrin, beta, non-erythrocytic 1
Band: 2p16.2
Quick LinksEntrez ID:6711; OMIM: 182790; Uniprot ID:SPTB2_HUMAN; ENSEMBL ID: ENSG00000115306; HGNC ID: 11275
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPTBN1|6711|nucleotide
ATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGATGTCAACAACCGCTGGGATGTCGACGACTGGGACAATGAGAACAGC
TCTGCGCGGCTTTTTGAGCGGTCCCGCATCAAGGCTCTGGCAGATGAGCGTGAAGCCGTGCAGAAGAAGACCTTCACCAAGTGGGTCAATTCCCACCTTGCCCGT
GTGTCCTGCCGGATCACAGACCTGTACACTGACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTGCCTAAACCCACCAAG
GGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTTCAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGAT
GGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAGATCCAGGATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCC
AAGGATGCATTGCTGTTGTGGTGCCAGATGAAGACAGCTGGGTACCCCAATGTCAACATTCACAATTTCACCACTAGCTGGAGGGACGGCATGGCCTTCAATGCA
CTGATACACAAACACCGGCCTGACCTGATAGATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTGGCAGAACAGCACCTC
GGCCTCACTAAACTGTTGGACCCCGAAGACATCAGCGTGGACCATCCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATG
AAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAGGTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTG
GAATGGATTGAACAAACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACCGCACTGTG
GAGAAACCACCCAAATTTACTGAGAAGGGGAACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTCTACATGCCCCGGGAG
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>SPTBN1|6711|protein
MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTK
GRMRIHCLENVDKALQFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNIHNFTTSWRDGMAFNA
LIHKHRPDLIDFDKLKKSNAHYNLQNAFNLAEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIETEKMIEKYESLASDLL
EWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKGNLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQAVVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLE
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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) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 1 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top