Evidence Details for NCSTN

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Basic Information Top

Gene Symbol:	NCSTN ( APH2,KIAA0253 )
Gene Full Name:	nicastrin
Band:	1q23.2
Quick Links	Entrez ID:23385; OMIM: 605254; Uniprot ID:NICA_HUMAN; ENSEMBL ID: ENSG00000162736; HGNC ID: 17091
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>NCSTN|23385|nucleotide
ATGGCTACGGCAGGGGGTGGCTCTGGGGCTGACCCGGGAAGTCGGGGTCTCCTTCGCCTTCTGTCTTTCTGCGTCCTACTAGCAGGTTTGTGCAGGGGAAACTCA
GTGGAGAGGAAGATATATATCCCCTTAAATAAAACAGCTCCCTGTGTTCGCCTGCTCAACGCCACTCATCAGATTGGCTGCCAGTCTTCAATTAGTGGAGACACA
GGGGTTATCCACGTAGTAGAGAAAGAGGAGGACCTACAGTGGGTATTGACTGATGGCCCCAACCCCCCTTACATGGTTCTGCTGGAGAGCAAGCATTTTACCAGG
GATTTAATGGAGAAGCTGAAAGGGAGAACCAGCCGAATTGCTGGTCTTGCAGTGTCCTTGACCAAGCCCAGTCCTGCCTCAGGCTTCTCTCCTAGTGTACAGTGC
CCAAATGATGGGTTTGGTGTTTACTCCAATTCCTATGGGCCAGAGTTTGCTCACTGCAGAGAAATACAGTGGAATTCGCTGGGCAATGGTTTGGCTTATGAAGAC
TTTAGTTTCCCCATCTTTCTTCTTGAAGATGAAAATGAAACCAAAGTCATCAAGCAGTGCTATCAAGATCACAACCTGAGTCAGAATGGCTCAGCACCAACCTTC
CCACTATGTGCCATGCAGCTCTTTTCACACATGCATGCTGTCATCAGCACTGCCACCTGCATGCGGCGCAGCTCCATCCAAAGCACCTTCAGCATCAACCCAGAA
ATCGTCTGTGACCCCCTGTCTGATTACAATGTGTGGAGCATGCTAAAGCCTATAAATACAACTGGGACATTAAAGCCTGACGACAGGGTTGTGGTTGCTGCCACC
CGGCTGGATAGTCGTTCCTTTTTCTGGAATGTGGCCCCAGGGGCTGAAAGCGCAGTGGCTTCCTTTGTCACCCAGCTGGCTGCTGCTGAAGCTTTGCAAAAGGCA
CCTGATGTGACCACCCTGCCCCGCAATGTCATGTTTGTCTTCTTTCAAGGGGAAACTTTTGACTACATTGGCAGCTCGAGGATGGTCTACGATATGGAGAAGGGC
AAGTTTCCCGTGCAGTTAGAGAATGTTGACTCATTTGTGGAGCTGGGACAGGTGGCCTTAAGAACTTCATTAGAGCTTTGGATGCACACAGATCCTGTTTCTCAG
AAAAATGAGTCTGTACGGAACCAGGTGGAGGATCTCCTGGCCACATTGGAGAAGAGTGGTGCTGGTGTCCCTGCTGTCATCCTCAGGAGGCCAAATCAGTCCCAG
CCTCTCCCACCATCTTCCCTGCAGCGATTTCTTCGAGCTCGAAACATCTCTGGCGTTGTTCTGGCTGACCACTCTGGTGCCTTCCATAACAAATATTACCAGAGT
ATTTACGACACTGCTGAGAACATTAATGTGAGCTATCCCGAATGGCTGAGCCCTGAAGAGGACCTGAACTTTGTAACAGACACTGCCAAGGCCCTGGCAGATGTG
GCCACGGTGCTGGGACGTGCTCTGTATGAGCTTGCAGGAGGAACCAACTTCAGCGACACAGTTCAGGCTGATCCCCAAACGGTTACCCGCCTGCTCTATGGGTTC
CTGATTAAAGCCAACAACTCATGGTTCCAGTCTATCCTCAGGCAGGACCTAAGGTCCTACTTGGGTGACGGGCCTCTTCAACATTACATCGCTGTCTCCAGCCCC
ACCAACACCACTTATGTTGTACAGTATGCCTTGGCAAATTTGACTGGCACAGTGGTCAACCTCACCCGAGAGCAGTGCCAGGATCCAAGTAAAGTCCCAAGTGAA
AACAAGGATCTGTATGAGTACTCATGGGTCCAGGGCCCTTTGCATTCTAATGAGACGGACCGACTCCCCCGGTGTGTGCGTTCTACTGCACGATTAGCCAGGGCC
TTGTCTCCTGCCTTTGAACTGAGTCAGTGGAGCTCTACTGAATACTCTACATGGACTGAGAGCCGCTGGAAAGATATCCGTGCCCGGATATTTCTCATCGCCAGC
AAAGAGCTTGAGTTGATCACCCTGACAGTGGGCTTCGGCATCCTCATCTTCTCCCTCATCGTCACCTACTGCATCAATGCCAAAGCTGATGTCCTTTTCATTGCT
CCCCGGGAGCCAGGAGCTGTGTCATACTGA
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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)	0 (0)	1 (1)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	2 (2)

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
Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

AutismKB 2.0

Evidence Details for NCSTN