AutismKB 2.0

Evidence Details for SOBP


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Basic Information Top
Gene Symbol:SOBP ( FLJ10159,JXC1 )
Gene Full Name: sine oculis binding protein homolog (Drosophila)
Band: 6q21
Quick LinksEntrez ID:55084; OMIM: NA; Uniprot ID:SOBP_HUMAN; ENSEMBL ID: ENSG00000112320; HGNC ID: 29256
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SOBP|55084|nucleotide
ATGGCAGAAATGGAGAAAGAAGGGAGACCTCCCGAAAATAAACGGAGCAGGAAGCCGGCTCACCCAGTGAAAAGGGAGATCAATGAGGAGATGAAGAACTTTGCA
GAAAACACCATGAATGAACTCCTTGGCTGGTATGGCTATGATAAGGTTGAATTAAAAGATGGTGAGGATATTGAATTCAGGAGCTACCCTACAGATGGGGAGAGC
CGGCAGCACATTTCTGTTCTCAAAGAAAATTCTTTGCCAAAACCAAAATTACCCGAGGACAGTGTTATTTCACCATACAATATAAGCACAGGCTATTCAGGGCTT
GCCACTGGAAATGGACTCAGTGACTCACCTGCAGGGTCAAAGGATCATGGCAGTGTGCCCATTATTGTACCTTTAATTCCACCACCTTTCATAAAGCCACCAGCA
GAAGATGATGTGTCAAATGTACAAATAATGTGTGCCTGGTGCCAGAAAGTGGGAATCAAGCGCTATTCCCTGAGTATGGGAAGTGAGGTGAAAAGCTTCTGCAGC
GAGAAGTGCTTTGCGGCCTGCCGACGAGCCTACTTCAAGAGAAATAAGGCTAGAGATGAAGATGGACATGCTGAAAATTTTCCCCAGCAGCACTATGCTAAGGAA
ACTCCAAGGCTTGCCTTCAAGAATAACTGCGAACTACTTGTATGTGACTGGTGTAAGCACATAAGACACACAAAAGAATACCTGGATTTTGGGGACGGGGAAAGA
AGGCTTCAGTTCTGCAGTGCAAAATGTCTCAATCAATACAAAATGGACATTTTCTACAAAGAGACCCAGGCCAATCTTCCAGCTGGGCTGTGCAGCACATTACAC
CCTCCCATGGAAAATAAAGCAGAAGGCACCGGGGTGCAGCTGCTCACTCCAGACTCTTGGAATATCCCGCTAACAGATGCTCGGAGGAAGGCCCCCTCCCCGGTG
GCTACAGCTGGCCAAAGCCAGGGCCCTGGCCCGTCGGCGTCCACCACCGTCTCTCCATCTGACACTGCCAACTGCTCTGTCACTAAAATCCCCACGCCAGTGCCC
AAGTCCATCCCCATCAGCGAGACTCCAAATATCCCTCCTGTCTCCGTCCAGCCACCTGCTAGCATCGGGCCTCCCCTTGGCGTCCCGCCTCGGAGCCCTCCCATG
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>SOBP|55084|protein
MAEMEKEGRPPENKRSRKPAHPVKREINEEMKNFAENTMNELLGWYGYDKVELKDGEDIEFRSYPTDGESRQHISVLKENSLPKPKLPEDSVISPYNISTGYSGL
ATGNGLSDSPAGSKDHGSVPIIVPLIPPPFIKPPAEDDVSNVQIMCAWCQKVGIKRYSLSMGSEVKSFCSEKCFAACRRAYFKRNKARDEDGHAENFPQQHYAKE
TPRLAFKNNCELLVCDWCKHIRHTKEYLDFGDGERRLQFCSAKCLNQYKMDIFYKETQANLPAGLCSTLHPPMENKAEGTGVQLLTPDSWNIPLTDARRKAPSPV
ATAGQSQGPGPSASTTVSPSDTANCSVTKIPTPVPKSIPISETPNIPPVSVQPPASIGPPLGVPPRSPPMVMTNRGPVPLPIFMEQQIMQQIRPPFIRGPPHHAS
NPNSPLSNPMLPGIGPPPGGPRNLGPTSSPMHRPMLSPHIHPPSTPTMPGNPPGLLPPPPPGAPLPSLPFPPVSMMPNGPMPVPQMMNFGLPSLAPLVPPPTLLV
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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 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
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
Nilsson D, 2017 8 - 17 Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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