Evidence Details for PRKRIP1
Basic Information Top
| Gene Symbol: | PRKRIP1 ( C114,FLJ13902,FLJ40957,KRBOX3 ) |
|---|---|
| Gene Full Name: | PRKR interacting protein 1 (IL11 inducible) |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:79706; OMIM: NA; Uniprot ID:PKRI1_HUMAN; ENSEMBL ID: ENSG00000128563; HGNC ID: 21894 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRKRIP1|79706|nucleotide
ATGGCTAGCCCAGCCGCCTCCTCGGTGCGACCACCGAGGCCCAAGAAAGAGCCGCAGACGCTCGTCATCCCCAAGAATGCGGCGGAGGAGCAGAAGCTCAAGCTG
GAGCGGCTCATGAAGAACCCGGACAAAGCAGTTCCAATTCCAGAGAAAATGAGTGAATGGGCACCTCGACCTCCCCCAGAATTTGTCCGAGATGTCATGGGTTCA
AGTGCTGGGGCCGGCAGTGGAGAGTTCCACGTGTACAGACATCTGCGCCGGAGAGAATATCAGCGACAGGACTACATGGATGCCATGGCTGAGAAGCAAAAATTG
GATGCAGAGTTTCAGAAAAGACTGGAAAAGAATAAAATTGCTGCAGAGGAGCAGACCGCAAAGCGCCGGAAGAAGCGCCAGAAGTTAAAAGAGAAGAAATTACTG
GCAAAGAAGATGAAACTTGAACAGAAGAAACAAGAAGGACCCGGTCAGCCCAAGGAGCAGGGGTCCAGCAGCTCTGCGGAGGCATCTGGAACAGAGGAGGAGGAG
GAAGTGCCCAGTTTCACCATGGGGCGATGA
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ATGGCTAGCCCAGCCGCCTCCTCGGTGCGACCACCGAGGCCCAAGAAAGAGCCGCAGACGCTCGTCATCCCCAAGAATGCGGCGGAGGAGCAGAAGCTCAAGCTG
GAGCGGCTCATGAAGAACCCGGACAAAGCAGTTCCAATTCCAGAGAAAATGAGTGAATGGGCACCTCGACCTCCCCCAGAATTTGTCCGAGATGTCATGGGTTCA
AGTGCTGGGGCCGGCAGTGGAGAGTTCCACGTGTACAGACATCTGCGCCGGAGAGAATATCAGCGACAGGACTACATGGATGCCATGGCTGAGAAGCAAAAATTG
GATGCAGAGTTTCAGAAAAGACTGGAAAAGAATAAAATTGCTGCAGAGGAGCAGACCGCAAAGCGCCGGAAGAAGCGCCAGAAGTTAAAAGAGAAGAAATTACTG
GCAAAGAAGATGAAACTTGAACAGAAGAAACAAGAAGGACCCGGTCAGCCCAAGGAGCAGGGGTCCAGCAGCTCTGCGGAGGCATCTGGAACAGAGGAGGAGGAG
GAAGTGCCCAGTTTCACCATGGGGCGATGA
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>PRKRIP1|79706|protein
MASPAASSVRPPRPKKEPQTLVIPKNAAEEQKLKLERLMKNPDKAVPIPEKMSEWAPRPPPEFVRDVMGSSAGAGSGEFHVYRHLRRREYQRQDYMDAMAEKQKL
DAEFQKRLEKNKIAAEEQTAKRRKKRQKLKEKKLLAKKMKLEQKKQEGPGQPKEQGSSSSAEASGTEEEEEVPSFTMGR
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MASPAASSVRPPRPKKEPQTLVIPKNAAEEQKLKLERLMKNPDKAVPIPEKMSEWAPRPPPEFVRDVMGSSAGAGSGEFHVYRHLRRREYQRQDYMDAMAEKQKL
DAEFQKRLEKNKIAAEEQTAKRRKKRQKLKEKKLLAKKMKLEQKKQEGPGQPKEQGSSSSAEASGTEEEEEVPSFTMGR
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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 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-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 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.94161 | Down | 26.4019 | |
| ||||||||||||
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.