AutismKB 2.0

Evidence Details for PRPF40B


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Basic Information Top
Gene Symbol:PRPF40B ( HYPC )
Gene Full Name: PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)
Band: 12q13.12
Quick LinksEntrez ID:25766; OMIM: NA; Uniprot ID:PR40B_HUMAN; ENSEMBL ID: ENSG00000110844; HGNC ID: 25031
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRPF40B|25766|nucleotide
ATGATGCCACCACCCTTCATGCCCCCTCCAGGGATCCCCCCACCCTTTCCTCCGATGGGGCTACCCCCCATGAGTCAGAGACCACCAGCTATCCCCCCCATGCCA
CCTGGCATCCTGCCCCCAATGCTTCCACCAATGGGGGCGCCACCACCACTCACACAGATACCAGGAATGGTACCTCCGATGATGCCAGGAATGCTGATGCCAGCG
GTGCCTGTCACCGCAGCGACGGCTCCGGGTGCGGACACCGCCAGCTCTGCTGTGGCTGGGACAGGCCCTCCGAGGGCCCTATGGAGTGAGCATGTGGCCCCAGAT
GGGCGCATCTACTACTACAATGCTGACGACAAGCAGTCCGTGTGGGAGAAGCCCAGCGTGCTCAAGTCCAAGGCAGAGCTGCTCCTGTCCCAATGTCCCTGGAAA
GAGTACAAGTCGGACACAGGCAAACCTTATTACTATAACAACCAGAGTAAAGAGTCCCGCTGGACCCGGCCCAAGGATCTGGATGACCTAGAGGTTCTAGTCAAA
CAAGAGGCTGCAGGGAAACAGCAGCAGCAGCTGCCACAGACACTTCAGCCACAGCCACCTCAGCCACAGCCTGACCCCCCACCTGTGCCTCCTGGCCCCACCCCA
GTGCCCACAGGCCTCCTGGAACCTGAGCCAGGTGGGAGTGAAGATTGTGATGTGTTGGAGGCCACCCAGCCCCTGGAACAGGGGTTCCTGCAGCAGCTGGAGGAG
GGCCCCAGCAGTTCTGGACAGCATCAGCCACAGCAGGAGGAGGAGGAATCAAAGCCAGAACCAGAGAGGTCTGGCCTCAGTTGGAGCAACCGGGAGAAGGCAAAG
CAGGCATTCAAGGAACTGCTGAGGGACAAGGCTGTCCCCTCCAATGCCTCATGGGAACAGGCCATGAAGATGGTGGTCACCGACCCCCGTTACAGTGCCTTGCCT
AAACTGAGTGAGAAAAAGCAGGCATTCAATGCCTACAAGGCGCAGCGGGAGAAGGAGGAGAAGGAGGAGGCCCGGCTAAGGGCCAAAGAGGCCAAGCAGACCCTG
CAGCATTTCCTGGAGCAGCATGAACGCATGACCTCCACCACCCGCTACCGGCGGGCAGAACAGACCTTTGGGGAGCTGGAGGTCTGGGCTGTGGTCCCTGAGAGG
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>PRPF40B|25766|protein
MMPPPFMPPPGIPPPFPPMGLPPMSQRPPAIPPMPPGILPPMLPPMGAPPPLTQIPGMVPPMMPGMLMPAVPVTAATAPGADTASSAVAGTGPPRALWSEHVAPD
GRIYYYNADDKQSVWEKPSVLKSKAELLLSQCPWKEYKSDTGKPYYYNNQSKESRWTRPKDLDDLEVLVKQEAAGKQQQQLPQTLQPQPPQPQPDPPPVPPGPTP
VPTGLLEPEPGGSEDCDVLEATQPLEQGFLQQLEEGPSSSGQHQPQQEEEESKPEPERSGLSWSNREKAKQAFKELLRDKAVPSNASWEQAMKMVVTDPRYSALP
KLSEKKQAFNAYKAQREKEEKEEARLRAKEAKQTLQHFLEQHERMTSTTRYRRAEQTFGELEVWAVVPERDRKEVYDDVLFFLAKKEKEQAKQLRRRNIQALKSI
LDGMSSVNFQTTWSQAQQYLMDNPSFAQDHQLQNMDKEDALICFEEHIRALEREEEEERERARLRERRQQRKNREAFQTFLDELHETGQLHSMSTWMELYPAVST
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top