AutismKB 2.0

Evidence Details for PRPF18


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Basic Information Top
Gene Symbol:PRPF18 ( FLJ10210,PRP18,hPrp18 )
Gene Full Name: PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)
Band: 10p13
Quick LinksEntrez ID:8559; OMIM: 604993; Uniprot ID:PRP18_HUMAN; ENSEMBL ID: ENSG00000165630; HGNC ID: 17351
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRPF18|8559|nucleotide
ATGGACATTCTGAAATCAGAGATCCTTCGGAAGCGGCAGCTGGTGGAGGACAGGAACCTGCTGGTGGAAAATAAAAAATATTTCAAGCGTAGTGAGCTCGCCAAA
AAAGAAGAGGAAGCATATTTTGAAAGATGTGGCTACAAGATACAGCCAAAAGAGGAGGACCAGAAACCATTAACTTCATCGAATCCAGTGTTAGAACTTGAACTG
GCAGAGGAAAAATTACCTATGACGCTTTCTAGGCAAGAGGTCATCAGAAGATTGAGAGAAAGAGGAGAACCAATCAGACTATTTGGAGAGACTGATTATGATGCT
TTTCAACGTTTAAGGAAAATAGAGATCCTCACACCAGAAGTTAACAAGGGATTGAGGAATGATTTGAAAGCAGCCTTGGATAAGATTGATCAGCAGTACCTCAAT
GAAATCGTCGGCGGTCAGGAGCCTGGAGAGGAAGACACACAGAATGATCTGAAAGTTCATGAGGAAAACACCACAATTGAAGAGTTAGAGGCGCTTGGAGAGTCC
TTAGGGAAAGGCGATGATCATAAAGACATGGACATCATCACCAAATTCCTGAAGTTTCTTCTTGGCGTTTGGGCTAAAGAATTGAATGCCAGAGAAGATTATGTG
AAACGCAGTGTGCAGGGTAAACTGAACAGTGCGACCCAGAAACAGACCGAGTCCTACCTAAGACCACTTTTTAGAAAGCTACGGAAAAGGAATCTTCCTGCTGAT
ATTAAAGAATCAATAACGGATATTATTAAATTCATGTTGCAGAGAGAATACGTGAAGGCAAATGATGCTTATCTTCAGATGGCCATTGGAAATGCGCCTTGGCCC
ATCGGTGTCACTATGGTTGGTATCCATGCCAGAACTGGCAGAGAAAAGATTTTTTCCAAGCATGTTGCACATGTTTTAAATGACGAAACTCAGCGGAAATATATT
CAGGGATTGAAGAGGTTAATGACCATTTGCCAGAAACACTTTCCTACAGACCCATCCAAATGTGTGGAGTACAATGCACTGTGA

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>PRPF18|8559|protein
MDILKSEILRKRQLVEDRNLLVENKKYFKRSELAKKEEEAYFERCGYKIQPKEEDQKPLTSSNPVLELELAEEKLPMTLSRQEVIRRLRERGEPIRLFGETDYDA
FQRLRKIEILTPEVNKGLRNDLKAALDKIDQQYLNEIVGGQEPGEEDTQNDLKVHEENTTIEELEALGESLGKGDDHKDMDIITKFLKFLLGVWAKELNAREDYV
KRSVQGKLNSATQKQTESYLRPLFRKLRKRNLPADIKESITDIIKFMLQREYVKANDAYLQMAIGNAPWPIGVTMVGIHARTGREKIFSKHVAHVLNDETQRKYI
QGLKRLMTICQKHFPTDPSKCVEYNAL

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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top