Evidence Details for NPHP4

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Basic Information Top

Gene Symbol:	NPHP4 ( FLJ46306,KIAA0673,POC10,SLSN4 )
Gene Full Name:	nephronophthisis 4
Band:	1p36.31
Quick Links	Entrez ID:261734; OMIM: 607215; Uniprot ID:NPHP4_HUMAN; ENSEMBL ID: ENSG00000131697; HGNC ID: 19104
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>NPHP4|261734|nucleotide
ATGAACGACTGGCACAGGATCTTCACCCAAAACGTGCTTGTCCCTCCCCACCCACAGAGAGCGCGCCAGCCTTGGAAGGAATCCACGGCATTCCAGTGTGTCCTC
AAGTGGCTGGACGGACCGGTAATTAGGCAGGGCGTGCTGGAGGTACTGTCAGAGGTTGAATGCCATCTGCGAGTGTCTTTCTTTGATGTCACCTACCGGCACTTC
TTTGGGAGGACGTGGAAAACCACAGTGAAGCCGACGAAGAGACCGCCGTCCAGGATCGTCTTTAATGAGCCCTTGTATTTTCACACATCCCTAAACCACCCTCAT
ATCGTGGCTGTGGTGGAAGTGGTCGCTGAGGGCAAGAAACGGGATGGGAGCCTCCAGACATTGTCCTGTGGGTTTGGAATTCTTCGGATCTTCAGCAACCAGCCG
GACTCTCCTATCTCTGCTTCCCAGGACAAAAGGTTGCGGCTGTACCATGGCACCCCCAGAGCCCTCCTGCACCCGCTTCTCCAGGACCCCGCAGAGCAAAACAGA
CACATGACCCTCATTGAGAACTGCAGCCTGCAGTACACGCTGAAGCCACACCCGGCCCTGGAGCCTGCGTTCCACCTTCTTCCTGAGAACCTTCTGGTGTCTGGT
CTGCAGCAGATACCTGGCCTGCTTCCAGCTCATGGAGAATCCGGCGACGCTCTCCGAAAGCCTCGCCTCCAGAAGCCCATCACGGGGCACTTGGATGACTTATTC
TTCACCCTGTACCCCTCCCTGGAGAAGTTTGAGGAAGAGCTGCTGGAGCTCCACGTCCAGGACCACTTCCAGGAGGGATGTGGCCCACTGGACGGTGGTGCCCTG
GAGATCCTGGAGCGGCGCCTGCGTGTGGGCGTGCACAATGGTCTGGGCTTCGTGCAGAGGCCGCAGGTCGTTGTACTGGTGCCTGAGATGGATGTGGCCTTGACG
CGCTCAGCTAGCTTCAGCAGGAAAGTGGTCTCCTCTTCCAAGACCAGCTCCGGGAGCCAAGCTCTGGTTTTGAGAAGCCGCCTCCGCCTCCCAGAGATGGTCGGC
CACCCTGCATTTGCGGTCATCTTCCAGCTGGAGTACGTGTTCAGCAGCCCTGCAGGAGTGGACGGCAATGCAGCTTCGGTCACCTCTCTGTCCAACCTGGCATGC
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>NPHP4|261734|protein
MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPH
IVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSG
LQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALT
RSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHC
LVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQ
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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)	0 (0)	0 (0)	0 (0)	1 (1)	0 (0)	0 (1)	0 (0)	12 (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
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488

Linkage Studies Top

AutismKB 2.0

Evidence Details for NPHP4