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