Evidence Detail for NPHP1

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Basic Information Top

Gene Symbol:	NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name:	nephronophthisis 1 (juvenile)
Band:	2q13
Quick Links	Entrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061

Sequences Top

nucleotide Sequence
Protein Sequence

>NPHP1|4867|nucleotide
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTGAAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAA
GCTCTAGAACCCAATAAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAAAATGCTCTTCAAAAATTAAGCAAAGCTGAT
GAATCTGCACCTGTTGCAAACTATAATCAGAGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCTGTGACAATAAGCAGA
GAAAATATAACTGAAGTTGGGGCACCTACTGAAGAAGAGGAAGAAAGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAG
GAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTTGGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAGAAA
GGGGAAATTCTCCTTGTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGTCTTGTTCCCAGAACCTACCTAGAGCCTTAT
AGTGAAGAAGAAGAAGGCCAAGAGTCAAGTGAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTTAAGCAAAGAACTGAT
CCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGGCGGGCATCTTCTGTCTTGTTAATCATGTCTCGTTTTGCTACCTAATAGTTCTGATGCGAAATAGGATG
GAGACTGTGGAAGACACCAATGGATCTGAAACAGGGTTCAGGGCATGGAATGTACAGAGCAGAGGACGTATATTTCTGGTTTCTAAGCCTGTGCTCCAACAGATA
AACACTGTTGATGTGTTAACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTGGAGGAAGGGAATCAATTTCGAGCAAATTAC
TTCTTACAACCAGAGCTCATGCCTTCACAACTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACTATTAGGTCGAGACCAAGTCGTATTTCATTGATT
CTGACATTATGGAGCTGTAAAATGATTCCTCTTCCAGGAATGAGCATACAGGTTCTCAGCAGACATGTACGCCTCTGTCTATTTGATGGTAATAAGGTTCTGAGC
AACATTCATACAGTCAGAGCCACATGGCAACCTAAAAAGCCCAAAACATGGACCTTTTCTCCCCAGGTTACTCGCATCTTACCATGTTTGCTTGATGGTGATTGC
TTTATCAGGTCTAATTCTGCATCTCCAGATCTTGGAATATTATTTGAACTTGGAATTTCTTATATTCGCAATTCAACTGGTGAAAGAGGAGAGTTAAGCTGTGGC
TGGGTGTTTCTTAAACTTTTTGATGCCAGTGGAGTTCCTATTCCAGCAAAAACTTATGAGCTTTTCTTGAATGGTGGTACTCCTTATGAAAAAGGTATTGAAGTG
GACCCTTCAATATCCAGAAGAGCACACGGCAGTGTTTTCTACCAGATTATGACAATGAGAAGGCAGCCTCAACTTCTAGTGAAACTGAGATCCTTGAACAGAAGA
TCAAGAAATGTACTAAGTCTACTGCCAGAAACATTAATTGGAAATATGTGTTCTATTCACTTGTTGATATTTTATCGACAAATTCTTGGAGATGTGCTCCTGAAA
GACAGGATGAGCTTGCAAAGTACTGATTTAATTAGCCATCCCATGCTGGCCACCTTCCCCATGCTCTTGGAGCAGCCTGATGTGATGGATGCTCTCAGGAGTTCG
TGGGCTGGAAAAGAAAGCACATTAAAAAGATCAGAGAAGAGAGACAAAGAGTTCCTGAAGTCCACGTTTCTCCTGGTTTACCATGACTGCGTGCTCCCACTTCTC
CACTCCACACGCCTACCCCCATTCAGGTGGGCAGAAGAAGAGACTGAGACTGCACGGTGGAAAGTTATCACTGACTTCCTTAAGCAAAACCAAGAAAACCAGGGC
GCCCTCCAAGCTCTGCTGTCACCAGACGGAGTTCATGAACCTTTTGACCTTTCAGAGCAGACCTATGACTTCTTGGGTGAAATGAGAAAGAATGCAGTGTGA
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>NPHP1|4867|nucleotide
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Evidence Statistic Top

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Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	Yes	0 (0)	0 (0)	1 (3)	0 (0)	0 (0)	0 (0)	2 (0)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AR
OMIM	Joubert syndrome 4 (609583)
Description	Joubert syndrome 4 and nephronophthisis (see AHI1 below, 6q23.3)
Reference(s)	17409309;
Level	Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.

Low Scale Association Studies (by Ethnic Group) Top

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

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

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

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

Large Scale Expression Studies Top

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0001005	2	2q13	loss	1	-	paternal	Pinto, 2010
AutCNV0001192	2	2q13	gain	1	-	paternal	Pinto, 2010
AutCNV0001608	2	2q13	gain	1	-	paternal	Pinto, 2010
AutCNV0001609	2	2q13	gain	1	-	paternal	Pinto, 2010
AutCNV0001610	2	2q13	gain	1	-	maternal	Pinto, 2010
AutCNV0001611	2	2q13	gain	1	-	paternal	Pinto, 2010
AutCNV0001612	2	2q13	loss	1	-	maternal	Pinto, 2010
AutCNV0001613	2	2q13	loss	1	-	paternal	Pinto, 2010
AutCNV0002242	2	2q13	loss	1	-	maternal	Pinto, 2010
AutCNV0002243	2	2q13	loss	1	-	na	Pinto, 2010
AutCNV0002394	2	2q13	gain	1	-	maternal	Pinto, 2010
AutCNV0002395	2	2q13	loss	1	-	maternal	Pinto, 2010
AutCNV0002396	2	2q13	loss	1	-	maternal	Pinto, 2010
AutCNV0003801	2	2q13	loss	1	-	Denovo CNVs;	Levy, 2011
AutCNV0004209	2	2q13	loss	1	-	CNVs Only Present In Patients;	Sanders, 2011

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
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