Evidence Details for NPHP1
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; HGNC ID: 7905 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NPHP1|4867|nucleotide
ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTGAAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAA
GCTCTAGAACCCAATAAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAAAATGCTCTTCAAAAATTAAGCAAAGCTGAT
GAATCTGCACCTGTTGCAAACTATAATCAGAGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCTGTGACAATAAGCAGA
GAAAATATAACTGAAGTTGGGGCACCTACTGAAGAAGAGGAAGAAAGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAG
GAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTTGGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAGAAA
GGGGAAATTCTCCTTGTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGTCTTGTTCCCAGAACCTACCTAGAGCCTTAT
AGTGAAGAAGAAGAAGGCCAAGAGTCAAGTGAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTTAAGCAAAGAACTGAT
CCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGGCGGGCATCTTCTGTCTTGTTAATCATGTCTCGTTTTGCTACCTAATAGTTCTGATGCGAAATAGGATG
GAGACTGTGGAAGACACCAATGGATCTGAAACAGGGTTCAGGGCATGGAATGTACAGAGCAGAGGACGTATATTTCTGGTTTCTAAGCCTGTGCTCCAACAGATA
AACACTGTTGATGTGTTAACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTGGAGGAAGGGAATCAATTTCGAGCAAATTAC
TTCTTACAACCAGAGCTCATGCCTTCACAACTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACTATTAGGTCGAGACCAAGTCGTATTTCATTGATT
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ATGCTGGCGAGACGACAGCGAGATCCTCTCCAGGCCCTGCGGCGCCGCAATCAGGAGCTGAAGCAACAGGTTGATAGTTTGCTTTCTGAGAGCCAACTGAAAGAA
GCTCTAGAACCCAATAAAAGACAACATATTTATCAAAGATGTATCCAGTTAAAGCAGGCAATAGATGAAAATAAAAATGCTCTTCAAAAATTAAGCAAAGCTGAT
GAATCTGCACCTGTTGCAAACTATAATCAGAGAAAAGAAGAGGAGCATACTCTTTTGGACAAGCTTACCCAACAACTGCAGGGCCTTGCTGTGACAATAAGCAGA
GAAAATATAACTGAAGTTGGGGCACCTACTGAAGAAGAGGAAGAAAGTGAAAGTGAAGATAGTGAAGACAGTGGTGGGGAGGAAGAAGATGCAGAGGAGGAAGAG
GAAGAGAAAGAGGAAAATGAATCTCACAAATGGTCAACCGGTGAAGAATACATCGCTGTTGGAGATTTTACTGCTCAGCAAGTTGGAGATCTTACATTTAAGAAA
GGGGAAATTCTCCTTGTAATTGAAAAAAAACCTGATGGTTGGTGGATAGCTAAGGATGCCAAAGGAAATGAAGGTCTTGTTCCCAGAACCTACCTAGAGCCTTAT
AGTGAAGAAGAAGAAGGCCAAGAGTCAAGTGAAGAGGGCAGTGAAGAAGATGTAGAGGCGGTGGATGAAACAGCAGATGGAGCAGAAGTTAAGCAAAGAACTGAT
CCCCACTGGAGTGCTGTTCAGAAAGCGATTTCAGAGGCGGGCATCTTCTGTCTTGTTAATCATGTCTCGTTTTGCTACCTAATAGTTCTGATGCGAAATAGGATG
GAGACTGTGGAAGACACCAATGGATCTGAAACAGGGTTCAGGGCATGGAATGTACAGAGCAGAGGACGTATATTTCTGGTTTCTAAGCCTGTGCTCCAACAGATA
AACACTGTTGATGTGTTAACTACGATGGGAGCTATTCCTGCAGGGTTCAGGCCTTCCACGCTCTCACAGCTTCTGGAGGAAGGGAATCAATTTCGAGCAAATTAC
TTCTTACAACCAGAGCTCATGCCTTCACAACTGGCCTTCAGAGATCTGATGTGGGATGCTACAGAAGGCACTATTAGGTCGAGACCAAGTCGTATTTCATTGATT
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>NPHP1|4867|protein
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISR
ENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQQI
NTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLS
NIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEV
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MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISR
ENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQQI
NTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLS
NIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEV
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Evidence summary TopClick 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) | Yes | 0 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopAbbreviations: 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. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Yasuda Y, 2014 | Japan | - | |  | autism | - | - | - | - | 2 | - | 2 |
| Mercati O, 2017 | - | - | | | ASD | - | - | - | - | 1534 | 8936 | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.