AutismKB 2.0

Evidence Details for SPTBN2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SPTBN2 ( GTRAP41,SCA5 )
Gene Full Name: spectrin, beta, non-erythrocytic 2
Band: 11q13.2
Quick LinksEntrez ID:6712; OMIM: 604985; Uniprot ID:SPTN2_HUMAN; ENSEMBL ID: ENSG00000173898; HGNC ID: 11276
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPTBN2|6712|nucleotide
ATGAGCAGCACGCTGTCACCCACAGACTTTGACAGCTTGGAAATCCAGGGCCAGTACAGTGACATCAACAACCGCTGGGACCTTCCTGACTCGGACTGGGACAAT
GACAGCAGCTCGGCCCGCCTCTTTGAGAGGTCTCGCATTAAGGCTCTGGCAGATGAACGAGAAGCTGTGCAGAAGAAAACCTTCACCAAGTGGGTAAACTCGCAC
CTGGCCCGGGTCACGTGCCGGGTGGGGGACCTGTACAGCGACCTCCGGGACGGACGCAACCTGCTGAGGCTCCTCGAGGTGCTCTCGGGAGAGATACTGCCAAAG
CCTACAAAGGGCCGCATGCGGATCCACTGCCTGGAGAACGTGGACAAGGCACTGCAGTTCCTCAAGGAGCAGAAAGTGCACTTGGAAAACATGGGCTCCCATGAC
ATTGTGGACGGAAACCACCGACTGACCCTTGGGCTGGTCTGGACCATCATCCTTCGATTCCAGATCCAAGACATCAGTGTGGAGACAGAAGACAACAAGGAGAAG
AAGTCAGCCAAGGATGCCCTGCTTCTGTGGTGCCAGATGAAGACTGCAGGTTATCCCAACGTCAATGTACACAACTTCACCACCAGCTGGAGAGATGGACTAGCT
TTCAACGCCATCGTGCATAAACACCGGCCAGACCTGCTGGATTTTGAGTCTCTGAAGAAGTGTAATGCACACTATAATCTGCAGAATGCATTCAATCTGGCTGAA
AAGGAACTGGGACTTACCAAGCTGCTGGATCCCGAAGACGTGAATGTGGACCAGCCAGATGAGAAGTCAATCATTACCTATGTGGCTACTTACTACCATTACTTC
TCCAAGATGAAGGCCCTGGCCGTGGAAGGCAAGAGAATTGGCAAGGTGCTGGACCATGCCATGGAGGCAGAGCGCCTGGTGGAGAAATACGAGTCCCTGGCCTCG
GAGCTGCTGCAGTGGATCGAGCAAACGATCGTGACCCTCAATGACCGGCAGTTGGCCAACTCCCTTAGCGGGGTCCAGAACCAGCTGCAGTCCTTCAACTCCTAC
CGCACCGTGGAGAAGCCGCCCAAGTTTACCGAGAAAGGGAACTTGGAAGTGCTGCTCTTCACCATCCAGAGCAAGCTTCGGGCCAACAACCAGAAGGTCTACACG
Show »

>SPTBN2|6712|protein
MSSTLSPTDFDSLEIQGQYSDINNRWDLPDSDWDNDSSSARLFERSRIKALADEREAVQKKTFTKWVNSHLARVTCRVGDLYSDLRDGRNLLRLLEVLSGEILPK
PTKGRMRIHCLENVDKALQFLKEQKVHLENMGSHDIVDGNHRLTLGLVWTIILRFQIQDISVETEDNKEKKSAKDALLLWCQMKTAGYPNVNVHNFTTSWRDGLA
FNAIVHKHRPDLLDFESLKKCNAHYNLQNAFNLAEKELGLTKLLDPEDVNVDQPDEKSIITYVATYYHYFSKMKALAVEGKRIGKVLDHAMEAERLVEKYESLAS
ELLQWIEQTIVTLNDRQLANSLSGVQNQLQSFNSYRTVEKPPKFTEKGNLEVLLFTIQSKLRANNQKVYTPREGRLISDINKAWERLEKAEHERELALRTELIRQ
EKLEQLAARFDRKAAMRETWLSENQRLVSQDNFGLELAAVEAAVRKHEAIETDIVAYSGRVQAVDAVAAELAAERYHDIKRIAARQHNVARLWDFLRQMVAARRE
Show »

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 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top