AutismKB 2.0

Evidence Details for PRF1


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Basic Information Top
Gene Symbol:PRF1 ( FLH2,HPLH2,MGC65093,P1,PFN1,PFP )
Gene Full Name: perforin 1 (pore forming protein)
Band: 10q22.1
Quick LinksEntrez ID:5551; OMIM: 170280; Uniprot ID:PERF_HUMAN; ENSEMBL ID: ENSG00000180644; HGNC ID: 9360
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRF1|5551|nucleotide
ATGGCAGCCCGTCTGCTCCTCCTGGGCATCCTTCTCCTGCTGCTGCCCCTGCCCGTCCCTGCCCCGTGCCACACAGCCGCACGCTCAGAGTGCAAGCGCAGCCAC
AAGTTCGTGCCTGGTGCATGGCTGGCCGGGGAGGGTGTGGACGTGACCAGCCTCCGCCGCTCGGGCTCCTTCCCAGTGGACACACAAAGGTTCCTGCGGCCCGAC
GGCACCTGCACCCTCTGTGAAAATGCCCTACAGGAGGGCACCCTCCAGCGCCTGCCTCTGGCGCTCACCAACTGGCGGGCCCAGGGCTCTGGCTGCCAGCGCCAT
GTAACCAGGGCCAAAGTCAGCTCCACTGAAGCTGTGGCCCGGGATGCGGCTCGTAGCATCCGCAACGACTGGAAGGTCGGGCTGGACGTGACTCCTAAGCCCACC
AGCAATGTGCATGTGTCTGTGGCCGGCTCACACTCACAGGCAGCCAACTTTGCAGCCCAGAAGACCCACCAGGACCAGTACAGCTTCAGCACTGACACGGTGGAG
TGCCGCTTCTACAGTTTCCATGTGGTACACACTCCCCCGCTGCACCCTGACTTCAAGAGGGCCCTCGGGGACCTGCCCCACCACTTCAACGCCTCCACCCAGCCC
GCCTACCTCAGGCTTATCTCCAACTACGGCACCCACTTCATCCGGGCTGTGGAGCTGGGTGGCCGCATATCGGCCCTCACTGCCCTGCGCACCTGCGAGCTGGCC
CTGGAAGGGCTCACGGACAACGAGGTGGAGGACTGCCTGACTGTCGAGGCCCAGGTCAACATAGGCATCCACGGCAGCATCTCTGCCGAAGCCAAGGCCTGTGAG
GAGAAGAAGAAGAAGCACAAGATGACGGCCTCCTTCCACCAAACCTACCGGGAGCGCCACTCGGAAGTGGTTGGCGGCCATCACACCTCCATTAACGACCTGCTG
TTCGGGATCCAGGCCGGGCCCGAGCAGTACTCAGCCTGGGTAAACTCGCTGCCCGGCAGCCCTGGCCTGGTGGACTACACCCTGGAACCCCTGCACGTGCTGCTG
GACAGCCAGGACCCGCGGCGGGAGGCACTGAGGAGGGCCCTGAGTCAGTACCTGACGGACAGGGCTCGCTGGAGGGACTGCAGCCGGCCGTGCCCACCAGGGCGG
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>PRF1|5551|protein
MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFPVDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRH
VTRAKVSSTEAVARDAARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYSFHVVHTPPLHPDFKRALGDLPHHFNASTQP
AYLRLISNYGTHFIRAVELGGRISALTALRTCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERHSEVVGGHHTSINDLL
FGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREALRRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT
FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRLQVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARC
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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) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top