Evidence Details for STXBP1

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Basic Information Top

Gene Symbol:	STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 )
Gene Full Name:	syntaxin binding protein 1
Band:	9q34.11
Quick Links	Entrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854; HGNC ID: 11444
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>STXBP1|6812|nucleotide
ATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGCTGGTGGTGGATCAG
TTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGATTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGC
CTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTC
TTCACTGACTCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTAT
GAATCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAG
ATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGAT
GCCTATAAAGCTGATGATCCAACAATGGGGGAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCAT
GAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTC
CTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGA
ATGAATACTGGAGAGAAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGTACTCCACCCACCTGCACCTT
GCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGAC
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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)	1 (2)	0 (0)	0 (0)	3 (3)	2 (7)	0 (0)	1 (1)	0 (0)	33 (13)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

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
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173
Krumm N, 2015	-	-	-	-	-	1266	-	-	-	-	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Reference	Source	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Source	Platfrom	ASD Cases	Normal Controls	Result
ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Large Scale Expression Studies Top

Microarray Studies: 2

Reference	Source	Tissue	#Subjects (% Women)	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)	-	autism	16 (6.25%)	0.746771	Down	-
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_1728747 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)	-	autism	16 (6.25%)	0.715846	Down	1.1752
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_2414878 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2	Unknown	frontal, BA44/45	10 (0.00%)	-	autism	6 (0.00%)	0.850226	Down	0.23231
Platform: Illumina Ref8 v4 microarrays ProbeSet: ILMN_2414878 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.

Proteomics Studies:1

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
Broek JA, 2014_1	Unknown	brain	selected reaction monitoring mass spectrometry	16 (18.75%)			ASD	18 (27.78%)

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
Neale BM, 2012	175	175	173	Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism
Wang T, 2016	1543	1045	54	De novo genic mutations among a Chinese autism spectrum disorder cohort
C Yuen RK, 2017	1625	-	237	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Geisheker MR, 2017	-	-	36	Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Trujillano D, 2017	5	-	5	Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Deciphering Developmental , 2015	15	-	15	Large-scale discovery of novel genetic causes of developmental disorders.

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
Wang T, 2016	China	Illumina HiSeq 2000			ASD	1045	-	-	1543	PCR and Sanger sequencing

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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:

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

AutismKB 2.0

Evidence Details for STXBP1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics