Evidence Details for NPC1

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Basic Information Top

Gene Symbol:	NPC1 ( FLJ98532,NPC )
Gene Full Name:	Niemann-Pick disease, type C1
Band:	18q11.2
Quick Links	Entrez ID:4864; OMIM: 607623; Uniprot ID:NPC1_HUMAN; ENSEMBL ID: ENSG00000141458; HGNC ID: 7897
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>NPC1|4864|nucleotide
ATGACCGCTCGCGGCCTGGCCCTTGGCCTCCTCCTGCTGCTACTGTGTCCAGCGCAGGTGTTTTCACAGTCCTGTGTTTGGTATGGAGAGTGTGGAATTGCATAT
GGGGACAAGAGGTACAATTGCGAATATTCTGGCCCACCAAAACCATTGCCAAAGGATGGATATGACTTAGTGCAGGAACTCTGTCCAGGATTCTTCTTTGGCAAT
GTCAGTCTCTGTTGTGATGTTCGGCAGCTTCAGACACTAAAAGACAACCTGCAGCTGCCTCTACAGTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTG
AACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATGTTACAGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAAACAAAT
GTGAAAGAGTTACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATGTGGAGGCCCCCTCAAGTAATGACAAGGCCCTGGGACTC
CTGTGTGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTCA
GATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGCCAAGACTGCTCTATT
GTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGCTTGGACGCCATGTATGTCATCATGTGGATCACCTACATGGCGTTTTTG
CTTGTGTTTTTTGGAGCATTTTTTGCAGTGTGGTGCTACAGAAAACGGTATTTTGTCTCCGAGTACACTCCCATCGATAGCAATATAGCTTTTTCTGTTAATGCA
AGTGACAAAGGAGAGGCGTCCTGCTGTGACCCTGTCAGCGCAGCATTTGAGGGCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGAAACCCT
GGCTGTGTCATTTTCTTCTCGCTGGTCTTCATTACTGCGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGC
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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)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	0 (1)

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 NPC1