AutismKB 2.0

Evidence Details for SPTBN5


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Basic Information Top
Gene Symbol:SPTBN5 ( BSPECV,HUBSPECV,HUSPECV )
Gene Full Name: spectrin, beta, non-erythrocytic 5
Band: 15q21
Quick LinksEntrez ID:51332; OMIM: 605916; Uniprot ID:SPTN5_HUMAN; ENSEMBL ID: ENSG00000137877; HGNC ID: 15680
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPTBN5|51332|nucleotide
ATGGACTCTCAGTACGAGACGGGCCACATTCGCAAGCTACAGGCCCGGCACATGCAGATGCAGGAGAAGACTTTCACCAAGTGGATCAATAACGTCTTCCAGTGC
GGCCAGGCGGGCATCAAGATCCGGAACCTGTACACAGAGCTGGCTGACGGCATCCACCTCCTGCGGCTGCTGGAGCTCATCTCAGGGGAGGCCCTGCCACCCCCG
AGCCGGGGCCGCCTGCGTGTGCACTTCCTGGAGAACAGCAGCCGAGCTCTGGCCTTCCTCAGGGCCAAGGTGCCAGTACCACTCATCGGGCCAGAGAACATCGTG
GACGGAGACCAGACACTCATCCTGGGACTCATCTGGGTCATCATTCTGCGTTTCCAGATCTCCCACATCTCCTTGGACAAGGAGGAGTTTGGGGCCAGCGCAGCC
CTGCTGTCCACCAAGGAAGCCCTGCTGGTCTGGTGCCAGCGGAAGACAGCCAGCTACACCAACGTGAACATTACAGATTTCTCCCGAAGCTGGAGCGATGGGCTG
GGCTTCAATGCCCTCATCCATGCCCACAGGCCAGACCTGTTGGACTACGGCTCCCTGCGTCCAGACCGCCCACTGCACAACCTTGCTTTTGCTTTCCTGGTGGCT
GAGCAGGAGCTGGGCATTGCTCAGCTGCTGGACCCCGAGGACGTGGCAGCCGCACAGCCAGATGAGCGCTCTATCATGACCTACGTCTCCCTCTACTACCACTAC
TGCTCCCGCCTGCATCAGGGGCAGACTGTCCAGAGGAGACTCACTAAGATCCTGCTTCAGCTCCAGGAGACAGAGCTGCTGCAGACCCAGTACGAGCAGCTGGTG
GCTGACCTTCTACGCTGGATTGCAGAGAAGCAGATGCAGCTGGAGGCGCGGGATTTTCCAGACTCGCTGCCCGCCATGCGGCAGCTACTGGCAGCATTCACCATC
TTCCGCACCCAGGAGAAGCCACCCCGGCTACAGCAGCGAGGGGCCGCAGAGGCCCTGCTCTTCCGGCTACAGACAGCACTCCAAGCCCAGAACCGCAGGCCCTTC
CTGCCTCATGAGGGCCTGGGCCTTGCAGAGCTGTCCCAGTGCTGGGCAGGGCTGGAGTGGGCAGAGGCTGCAAGGAGCCAGGCCCTGCAGCAGAGGCTACTGCAG
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>SPTBN5|51332|protein
MDSQYETGHIRKLQARHMQMQEKTFTKWINNVFQCGQAGIKIRNLYTELADGIHLLRLLELISGEALPPPSRGRLRVHFLENSSRALAFLRAKVPVPLIGPENIV
DGDQTLILGLIWVIILRFQISHISLDKEEFGASAALLSTKEALLVWCQRKTASYTNVNITDFSRSWSDGLGFNALIHAHRPDLLDYGSLRPDRPLHNLAFAFLVA
EQELGIAQLLDPEDVAAAQPDERSIMTYVSLYYHYCSRLHQGQTVQRRLTKILLQLQETELLQTQYEQLVADLLRWIAEKQMQLEARDFPDSLPAMRQLLAAFTI
FRTQEKPPRLQQRGAAEALLFRLQTALQAQNRRPFLPHEGLGLAELSQCWAGLEWAEAARSQALQQRLLQLQRLETLARRFQHKAALRESFLKDAEQVLDQARAP
PASLATVEAAVQRLGMLEAGILPQEGRFQALAEIADILRQEQYHSWADVARRQEEVTVRWQRLLQHLQGQRKQVADMQAVLSLLQEVEAASHQLEELQEPARSTA
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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 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 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
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018