Evidence Details for NDFIP1
Basic Information Top
| Gene Symbol: | NDFIP1 ( MGC10924,N4WBP5 ) |
|---|---|
| Gene Full Name: | Nedd4 family interacting protein 1 |
| Band: | 5q31.3 |
| Quick Links | Entrez ID:80762; OMIM: 612050; Uniprot ID:NFIP1_HUMAN; ENSEMBL ID: ENSG00000131507; HGNC ID: 17592 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NDFIP1|80762|nucleotide
ATGGCGTTGGCGTTGGCGGCGCTGGCGGCGGTCGAGCCGGCCTGCGGCAGCCGGTACCAGCAGTTGCAGAATGAAGAAGAGTCTGGAGAACCTGAACAGGCTGCA
GGTGATGCTCCTCCACCTTACAGCAGCATTTCTGCAGAGAGCGCAGCATATTTTGACTACAAGGATGAGTCTGGGTTTCCAAAGCCCCCATCTTACAATGTAGCT
ACAACACTGCCCAGTTATGATGAAGCGGAGAGGACCAAGGCTGAAGCTACTATCCCTTTGGTTCCTGGGAGAGATGAGGATTTTGTGGGTCGGGATGATTTTGAT
GATGCTGACCAGCTGAGGATAGGAAATGATGGGATTTTCATGTTAACTTTTTTCATGGCATTCCTCTTTAACTGGATTGGGTTTTTCCTGTCTTTTTGCCTGACC
ACTTCAGCTGCAGGAAGGTATGGGGCCATTTCAGGATTTGGTCTCTCTCTAATTAAATGGATCCTGATTGTCAGGTTTTCCACCTATTTCCCTGGATATTTTGAT
GGTCAGTACTGGCTCTGGTGGGTGTTCCTTGTTTTAGGCTTTCTCCTGTTTCTCAGAGGATTTATCAATTATGCAAAAGTTCGGAAGATGCCAGAAACTTTCTCA
AATCTCCCCAGGACCAGAGTTCTCTTTATTTATTAA
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ATGGCGTTGGCGTTGGCGGCGCTGGCGGCGGTCGAGCCGGCCTGCGGCAGCCGGTACCAGCAGTTGCAGAATGAAGAAGAGTCTGGAGAACCTGAACAGGCTGCA
GGTGATGCTCCTCCACCTTACAGCAGCATTTCTGCAGAGAGCGCAGCATATTTTGACTACAAGGATGAGTCTGGGTTTCCAAAGCCCCCATCTTACAATGTAGCT
ACAACACTGCCCAGTTATGATGAAGCGGAGAGGACCAAGGCTGAAGCTACTATCCCTTTGGTTCCTGGGAGAGATGAGGATTTTGTGGGTCGGGATGATTTTGAT
GATGCTGACCAGCTGAGGATAGGAAATGATGGGATTTTCATGTTAACTTTTTTCATGGCATTCCTCTTTAACTGGATTGGGTTTTTCCTGTCTTTTTGCCTGACC
ACTTCAGCTGCAGGAAGGTATGGGGCCATTTCAGGATTTGGTCTCTCTCTAATTAAATGGATCCTGATTGTCAGGTTTTCCACCTATTTCCCTGGATATTTTGAT
GGTCAGTACTGGCTCTGGTGGGTGTTCCTTGTTTTAGGCTTTCTCCTGTTTCTCAGAGGATTTATCAATTATGCAAAAGTTCGGAAGATGCCAGAAACTTTCTCA
AATCTCCCCAGGACCAGAGTTCTCTTTATTTATTAA
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>NDFIP1|80762|protein
MALALAALAAVEPACGSRYQQLQNEEESGEPEQAAGDAPPPYSSISAESAAYFDYKDESGFPKPPSYNVATTLPSYDEAERTKAEATIPLVPGRDEDFVGRDDFD
DADQLRIGNDGIFMLTFFMAFLFNWIGFFLSFCLTTSAAGRYGAISGFGLSLIKWILIVRFSTYFPGYFDGQYWLWWVFLVLGFLLFLRGFINYAKVRKMPETFS
NLPRTRVLFIY
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MALALAALAAVEPACGSRYQQLQNEEESGEPEQAAGDAPPPYSSISAESAAYFDYKDESGFPKPPSYNVATTLPSYDEAERTKAEATIPLVPGRDEDFVGRDDFD
DADQLRIGNDGIFMLTFFMAFLFNWIGFFLSFCLTTSAAGRYGAISGFGLSLIKWILIVRFSTYFPGYFDGQYWLWWVFLVLGFLLFLRGFINYAKVRKMPETFS
NLPRTRVLFIY
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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) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) |  | | autism with FMR1-FM | autism | 15 (-) |
0.86 | Down | 0.000000017 | |
| ||||||||||||
| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | | | autism with dup(15q) | autism | 15 (-) |
0.87 | Down | 0.000000017 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.