AutismKB 2.0

Evidence Details for PRPF39


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Basic Information Top
Gene Symbol:PRPF39 ( FLJ11128,FLJ20666,FLJ45460,MGC149842,MGC149843 )
Gene Full Name: PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)
Band: 14q21.2
Quick LinksEntrez ID:55015; OMIM: NA; Uniprot ID:PRP39_HUMAN; ENSEMBL ID: ENSG00000185246; HGNC ID: 20314
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRPF39|55015|nucleotide
ATGCAAAATTCTCACATGGATGAATACAGAAATTCTAGTAATGGCAGCACAGGCAACAGTTCAGAGGTAGTGGTAGAACATCCTACTGATTTCAGTACTGAGATT
ATGAACGTTACAGAAATGGAACAGTCACCTGATGACTCTCCCAATGTGAATGCATCTACAGAAGAAACTGAAATGGCAAGTGCTGTGGACCTTCCAGTGACGCTG
ACAGAAACAGAAGCAAATTTCCCTCCAGAATATGAAAAATTTTGGAAAACTGTAGAAAATAATCCTCAGGATTTTACAGGCTGGGTATATTTGCTTCAATATGTA
GAACAGGAGAATCACTTGATGGCTGCCAGGAAGGCATTTGACAGATTTTTCATACACTATCCGTATTGCTATGGTTACTGGAAAAAGTATGCAGACCTTGAAAAG
CGGCACGACAACATTAAACCATCAGATGAGGTTTATCGGCGGGGGCTTCAGGCAATACCTCTTAGTGTTGACCTTTGGATACATTATATAAACTTCTTAAAAGAA
ACATTGGACCCTGGTGATCCTGAGACAAACAATACAATAAGAGGAACTTTTGAGCATGCTGTTCTAGCTGCAGGAACAGATTTCCGTTCTGACAGACTGTGGGAA
ATGTATATAAACTGGGAAAATGAGCAGGGAAACCTGAGAGAAGTTACAGCTATATATGATCGTATTCTTGGTATTCCAACACAGCTGTATAGTCATCATTTTCAG
AGATTTAAAGAACATGTACAGAATAATTTGCCTAGAGATCTTTTAACTGGTGAACAGTTTATTCAGTTGCGAAGGGAATTAGCTTCTGTAAATGGTCATAGTGGT
GATGATGGTCCTCCTGGTGATGATCTACCATCGGGAATTGAAGACATAACCGATCCTGCAAAGCTAATTACAGAAATAGAAAACATGAGACATAGAATCATTGAG
ATTCATCAAGAAATGTTTAATTATAATGAGCATGAAGTTAGTAAAAGGTGGACATTTGAAGAAGGTATTAAAAGACCTTACTTTCATGTGAAACCTTTGGAAAAG
GCACAACTAAAAAACTGGAAAGAATACTTAGAATTTGAAATTGAAAATGGGACTCATGAACGAGTTGTGGTTCTCTTTGAAAGATGTGTCATATCATGTGCCCTC
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>PRPF39|55015|protein
MQNSHMDEYRNSSNGSTGNSSEVVVEHPTDFSTEIMNVTEMEQSPDDSPNVNASTEETEMASAVDLPVTLTETEANFPPEYEKFWKTVENNPQDFTGWVYLLQYV
EQENHLMAARKAFDRFFIHYPYCYGYWKKYADLEKRHDNIKPSDEVYRRGLQAIPLSVDLWIHYINFLKETLDPGDPETNNTIRGTFEHAVLAAGTDFRSDRLWE
MYINWENEQGNLREVTAIYDRILGIPTQLYSHHFQRFKEHVQNNLPRDLLTGEQFIQLRRELASVNGHSGDDGPPGDDLPSGIEDITDPAKLITEIENMRHRIIE
IHQEMFNYNEHEVSKRWTFEEGIKRPYFHVKPLEKAQLKNWKEYLEFEIENGTHERVVVLFERCVISCALYEEFWIKYAKYMENHSIEGVRHVFSRACTIHLPKK
PMVHMLWAAFEEQQGNINEARNILKTFEECVLGLAMVRLRRVSLERRHGNLEEAEHLLQDAIKNAKSNNESSFYAVKLARHLFKIQKNLPKSRKVLLEAIERDKE
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top