AutismKB 2.0

Evidence Details for SUN2


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Basic Information Top
Gene Symbol:SUN2 ( KIAA0668,MGC133055,MGC133056,UNC84B )
Gene Full Name: Sad1 and UNC84 domain containing 2
Band: 22q13.1
Quick LinksEntrez ID:25777; OMIM: 613569; Uniprot ID:SUN2_HUMAN; ENSEMBL ID: ENSG00000100242; HGNC ID: 14210
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SUN2|25777|nucleotide
ATGTCCCGAAGAAGCCAGCGCCTCACGCGCTACTCCCAGGGTGACGATGACGGCAGCAGCAGCAGCGGAGGGAGCTCGGTGGCTGGGAGTCAGAGCACCCTGTTT
AAAGACAGTCCTCTCAGGACCTTGAAGAGGAAATCCAGCAACATGAAGCGCCTGTCCCCAGCGCCACAGCTGGGCCCGTCCTCTGATGCACACACCTCCTACTAC
AGTGAGTCGCTGGTCCACGAGTCCTGGTTCCCACCCAGGAGCTCCCTGGAGGAACTGCATGGTGACGCCAACTGGGGTGAGGACCTGCGGGTGCGGAGGAGGAGA
GGCACGGGTGGCTCAGAGAGCAGCAGGGCCAGCGGGCTTGTGGGGCGCAAGGCCACCGAGGACTTCCTGGGCTCTTCCTCGGGCTACTCCTCTGAGGACGACTAC
GTGGAAGACAGTGAAGGAAGAGGCTCGAAAGTGACAGAGACTGAGCCAGTGTCCTCGTTCCCCGCAGGCTACTCGGATGTGGACCAGCAGAGTTCCAGCTCGCGG
CTCCGAAGCGCCGTCTCACGGGCGGGCTCCTTACTCTGGATGGTGGCCACTTCGCCAGGCCGGCTCTTCAGACTTCTCTACTGGTGGGCTGGCACCACCTGGTAC
CGCCTGACCACAGCTGCCTCCCTCCTTGACGTCTTCGTTTTAACCAGGCGCTTCTCGTCCCTGAAGACGTTCCTCTGGTTCCTGCTGCCGCTGCTCTTGCTGACG
TGCCTGACGTATGGTGCTTGGTATTTCTACCCCTATGGGCTGCAGACATTCCACCCTGCTTTGGTTTCCTGGTGGGCAGCGAAGGACAGCAGGAGGCCGGATGAG
GGCTGGGAAGCCAGAGACTCATCGCCACATTTCCAGGCTGAGCAGCGTGTTATGTCCCGGGTACACTCTCTGGAGCGGCGTCTGGAAGCTCTTGCTGCTGAATTT
TCCTCCAACTGGCAGAAGGAGGCCATGCGGCTGGAACGTCTGGAGCTGCGGCAAGGGGCTCCTGGCCAGGGAGGTGGTGGTGGCCTGAGCCACGAGGACACCCTG
GCGCTGCTGGAGGGGCTAGTGAGCCGCCGTGAAGCTGCCCTGAAGGAGGATTTCCGCAGGGAAACTGCTGCTCGCATCCAGGAAGAACTGTCTGCCCTGAGAGCA
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>SUN2|25777|protein
MSRRSQRLTRYSQGDDDGSSSSGGSSVAGSQSTLFKDSPLRTLKRKSSNMKRLSPAPQLGPSSDAHTSYYSESLVHESWFPPRSSLEELHGDANWGEDLRVRRRR
GTGGSESSRASGLVGRKATEDFLGSSSGYSSEDDYVEDSEGRGSKVTETEPVSSFPAGYSDVDQQSSSSRLRSAVSRAGSLLWMVATSPGRLFRLLYWWAGTTWY
RLTTAASLLDVFVLTRRFSSLKTFLWFLLPLLLLTCLTYGAWYFYPYGLQTFHPALVSWWAAKDSRRPDEGWEARDSSPHFQAEQRVMSRVHSLERRLEALAAEF
SSNWQKEAMRLERLELRQGAPGQGGGGGLSHEDTLALLEGLVSRREAALKEDFRRETAARIQEELSALRAEHQQDSEDLFKKIVRASQESEARIQQLKSEWQSMT
QESFQESSVKELRRLEDQLAGLQQELAALALKQSSVAEEVGLLPQQIQAVRDDVESQFPAWISQFLARGGGGRVGLLQREEMQAQLRELESKILTHVAEMQGKSA
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (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