Evidence Details for POP4
Basic Information Top
| Gene Symbol: | POP4 ( RPP29 ) |
|---|---|
| Gene Full Name: | processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) |
| Band: | 19q12 |
| Quick Links | Entrez ID:10775; OMIM: 606114; Uniprot ID:RPP29_HUMAN; ENSEMBL ID: ENSG00000105171; HGNC ID: 30081 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POP4|10775|nucleotide
ATGAAGAGTGTGATCTACCATGCATTGTCTCAGAAAGAGGCGAATGACTCCGATGTCCAGCCTTCAGGAGCACAGCGGGCCGAGGCCTTCGTGAGGGCCTTCCTG
AAGCGCAGCACGCCCCGCATGAGCCCGCAGGCCCGCGAGGACCAGCTGCAGCGCAAGGCGGTGGTCCTGGAGTACTTCACCCGCCACAAGCGCAAGGAGAAGAAG
AAGAAAGCCAAAGGCCTCTCTGCCAGGCAAAGGAGGGAGCTGCGGCTCTTTGACATTAAACCAGAGCAGCAGAGATACAGCCTTTTCCTCCCTCTCCATGAACTC
TGGAAACAGTACATCAGGGACCTGTGCAGTGGGCTCAAGCCAGACACGCAGCCACAGATGATTCAGGCCAAGCTCTTAAAGGCAGATCTTCACGGGGCTATTATT
TCAGTGACAAAATCCAAATGCCCCTCTTATGTGGGTATTACAGGAATCCTTCTACAGGAAACAAAGCACATTTTCAAAATTATCACCAAAGAAGACCGCCTGAAA
GTTATCCCCAAGCTAAACTGCGTGTTCACTGTGGAAACCGATGGCTTTATTTCCTACATTTACGGGAGCAAATTCCAGCTTCGGTCAAGTGAACGGTCTGCGAAG
AAGTTCAAAGCGAAGGGAACGATTGACCTGTGA
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ATGAAGAGTGTGATCTACCATGCATTGTCTCAGAAAGAGGCGAATGACTCCGATGTCCAGCCTTCAGGAGCACAGCGGGCCGAGGCCTTCGTGAGGGCCTTCCTG
AAGCGCAGCACGCCCCGCATGAGCCCGCAGGCCCGCGAGGACCAGCTGCAGCGCAAGGCGGTGGTCCTGGAGTACTTCACCCGCCACAAGCGCAAGGAGAAGAAG
AAGAAAGCCAAAGGCCTCTCTGCCAGGCAAAGGAGGGAGCTGCGGCTCTTTGACATTAAACCAGAGCAGCAGAGATACAGCCTTTTCCTCCCTCTCCATGAACTC
TGGAAACAGTACATCAGGGACCTGTGCAGTGGGCTCAAGCCAGACACGCAGCCACAGATGATTCAGGCCAAGCTCTTAAAGGCAGATCTTCACGGGGCTATTATT
TCAGTGACAAAATCCAAATGCCCCTCTTATGTGGGTATTACAGGAATCCTTCTACAGGAAACAAAGCACATTTTCAAAATTATCACCAAAGAAGACCGCCTGAAA
GTTATCCCCAAGCTAAACTGCGTGTTCACTGTGGAAACCGATGGCTTTATTTCCTACATTTACGGGAGCAAATTCCAGCTTCGGTCAAGTGAACGGTCTGCGAAG
AAGTTCAAAGCGAAGGGAACGATTGACCTGTGA
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>POP4|10775|protein
MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHEL
WKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAK
KFKAKGTIDL
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MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHEL
WKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAK
KFKAKGTIDL
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
| Liu, 2001 | USA | microsatellite-based genomic screen | | | autism, ASD | 110 | - | 110 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | |  | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
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.