AutismKB 2.0

Evidence Details for PGBD2


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Basic Information Top
Gene Symbol:PGBD2 ( - )
Gene Full Name: piggyBac transposable element derived 2
Band: 1q
Quick LinksEntrez ID:267002; OMIM: NA; Uniprot ID:PGBD2_HUMAN; ENSEMBL ID: ENSG00000185220; HGNC ID: 19399
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PGBD2|267002|nucleotide
ATGAACTGCAATTTCCAGAAGCATGCACCCTTGGAAGAGTTCTACAGCTTTGGCGAGTCTATGTGTGAGTACTTTGGGCACCGGGGGTCCAAGCAGCTGCACAGG
GGGAAGCCTGTGCGACTTGGCTACAAGATTTGGTGTGGGACAACCAGCAGAGGCTACTTGGTGTGGTTTGAGCCCTCACAGGGCACACTGTTTACCAAGCCAGAC
AGGAGCTTGGATCTAGGAGGCAGTATGGTAATAAAATTTGTGGATGCGCTTCAGGAGCGTGGTTTTCTGCCATATCACATATTTTTTGACAAGGTTTTCACAAGT
GTTAAACTGATGTCCATTTTGAGGAAAAAGGGGGTGAAAGCCACAGGAACTGTTCGTGAGTACAGGACTGAGCGATGTCCCCTAAAAGACCCCAAAGAACTGAAA
AAAATGAAGAGGGGTTCATTTGATTACAAAGTCGATGAGAGTGAGGAGATCATCGTGTGCCGCTGGCACGATAGCAGCGTGGTCAACATTTGCTCCAATGCTGTG
GGCATAGAGCCAGTGAGGCTGACCAGTCGTCACTCTGGAGCAGCTAAAACGCGGACTCAGGTCCACCAGCCATCACTGGTGAAGCTGTATCAGGAGAAGGTGGGT
GGCGTTGGTAGGATGGATCAGAATATTGCCAAGTACAAGGTGAAGATCCGAGGCATGAAGTGGTACTCAAGCTTTATTGGCTATGTCATTGATGCTGCCCTCAAC
AATGCATGGCAGCTGCATAGAATCTGCTGCCAAGATGCCCAGGTGGACCTCCTTGCCTTCCGGAGATACATTGCCTGTGTGTATCTGGAGAGCAATGCTGACACA
ACATCTCAAGGGAGGCGAAGCAGGCGGTTGGAGACTGAGAGCCGCTTCGATATGATTGGGCACTGGATTATCCATCAGGACAAGAGGACCCGGTGTGCCCTCTGC
CACTCACAGACCAACACCCGGTGTGAGAAGTGCCAGAAGGGTGTCCATGCCAAATGCTTCAGGGAGTACCACATCCGGTGA

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>PGBD2|267002|protein
MNCNFQKHAPLEEFYSFGESMCEYFGHRGSKQLHRGKPVRLGYKIWCGTTSRGYLVWFEPSQGTLFTKPDRSLDLGGSMVIKFVDALQERGFLPYHIFFDKVFTS
VKLMSILRKKGVKATGTVREYRTERCPLKDPKELKKMKRGSFDYKVDESEEIIVCRWHDSSVVNICSNAVGIEPVRLTSRHSGAAKTRTQVHQPSLVKLYQEKVG
GVGRMDQNIAKYKVKIRGMKWYSSFIGYVIDAALNNAWQLHRICCQDAQVDLLAFRRYIACVYLESNADTTSQGRRSRRLETESRFDMIGHWIIHQDKRTRCALC
HSQTNTRCEKCQKGVHAKCFREYHIR

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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top