Evidence Details for NUP35

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Basic Information Top

Gene Symbol:	NUP35 ( MP44,NP44,NUP53 )
Gene Full Name:	nucleoporin 35kDa
Band:	2q32.1
Quick Links	Entrez ID:129401; OMIM: 608140; Uniprot ID:NUP53_HUMAN; ENSEMBL ID: ENSG00000163002; HGNC ID: 29797
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>NUP35|129401|nucleotide
ATGGCAGCCTTTGCAGTGGAACCTCAGGGGCCCGCGTTAGGATCTGAACCAATGATGCTGGGTTCACCCACATCTCCAAAGCCAGGAGTTAATGCCCAGTTCTTA
CCTGGATTTTTAATGGGGGATTTGCCAGCTCCGGTGACTCCACAACCTCGATCAATTAGTGGCCCTTCAGTAGGAGTAATGGAAATGAGATCACCTTTACTTGCA
GGTGGGTCACCACCACAACCAGTTGTACCAGCTCATAAAGATAAAAGTGGCGCTCCACCAGTTAGAAGTATATATGATGACATTTCTAGCCCAGGACTTGGATCA
ACACCTTTAACTTCAAGAAGACAGCCAAACATTTCAGTAATGCAGAGTCCTCTTGTTGGAGTTACATCTACTCCTGGAACAGGGCAAAGTATGTTTAGTCCAGCA
AGTATCGGTCAGCCACGAAAGACGACATTATCTCCTGCCCAGTTGGATCCTTTTTATACTCAAGGAGATTCTTTGACTTCAGAAGATCACCTCGATGACTCTTGG
GTGACTGTATTTGGGTTTCCTCAAGCATCTGCTTCCTACATATTACTACAATTTGCACAGTATGGGAATATCTTAAAACATGTGATGTCTAATACAGGAAATTGG
ATGCATATTCGTTATCAATCTAAACTGCAGGCTCGGAAAGCCTTAAGCAAAGATGGGAGGATTTTTGGAGAATCCATCATGATTGGTGTAAAACCATGTATTGAC
AAAAGTGTTATGGAAAGCAGTGACAGATGTGCTTTATCATCTCCATCTTTAGCCTTTACACCACCAATCAAAACTCTAGGTACACCAACACAACCTGGAAGTACT
CCTAGGATTTCTACCATGAGACCTCTTGCTACAGCATACAAAGCCTCTACTAGTGATTATCAGGTTATTTCTGACAGACAAACGCCAAAAAAAGATGAAAGTCTT
GTATCCAAAGCAATGGAGTACATGTTTGGCTGGTAG

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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 (1)	1 (2)	1 (1)	0 (1)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	4 (5)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
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
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Gallagher, 2003	-	Chromosomal analysis of G-band			autism	-	-	-	-	1	-	1
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283

Linkage Studies Top

AutismKB 2.0

Evidence Details for NUP35