AutismKB 2.0

Evidence Details for POP4


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Basic Information Top
Gene Symbol:POP4 ( RPP29 )
Gene Full Name: processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)
Band: 19q12
Quick LinksEntrez 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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>POP4|10775|protein
MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHEL
WKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAK
KFKAKGTIDL


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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top