AutismKB 2.0

Evidence Details for PBLD


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Basic Information Top
Gene Symbol:PBLD ( FLJ14767,FLJ35507,MAWBP,MAWDBP )
Gene Full Name: phenazine biosynthesis-like protein domain containing
Band: 10q21.3
Quick LinksEntrez ID:64081; OMIM: 612189; Uniprot ID:PBLD_HUMAN; ENSEMBL ID: ENSG00000108187; HGNC ID: 23301
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PBLD|64081|nucleotide
ATGAAGCTTCCTATTTTCATAGCAGATGCATTCACAGCAAGAGCATTTCGTGGGAATCCTGCTGCTGTTTGCCTCCTAGAAAATGAATTGGATGAAGACATGCAT
CAGAAAATTGCAAGGGAGATGAACCTCTCTGAAACTGCTTTTATCCGAAAACTGCACCCGACAGACAACTTTGCACAAAGTTCCTGCTTTGGACTGAGATGGTTT
ACACCAGCGAGTGAGGTCCCACTCTGTGGCCATGCCACCCTGGCTTCTGCAGCTGTGCTGTTTCACAAAATAAAAAACATGAATAGCACGCTCACGTTTGTCACT
CTGAGTGGAGAACTAAGGGCCAGACGAGCAGAGGATGGCATCGTCCTGGACTTGCCTCTTTATCCAGCCCACCCCCAGGACTTCCATGAAGTAGAGGACTTGATA
AAGACTGCCATAGGCAACACACTGGTCCAGGACATCTGTTATTCTCCAGATACCCAAAAGCTCCTCGTCCGCCTCAGTGACGTTTACAACAGGTCGTTTCTGGAG
AACCTGAAAGTGAACACGGAGAATCTGCTGCAAGTTGAAAACACAGGGAAGGTGAAAGGGCTTATTCTTACCCTTAAAGGAGAGCCTGGTGGGCAGACCCAAGCA
TTTGACTTTTACTCAAGATATTTTGCACCGTGGGTTGGTGTGGCTGAAGACCCAGTGACAGGGTCTGCACACGCTGTTCTCAGCAGCTACTGGTCCCAGCATCTG
GGGAAGAAAGAAATGCATGGTAGGACAGCTCTTTACCAATTTCTTTTTTATTTGCCTAATTCGAAGCTAGTGTTCCTTCTCATATGTACTATCCCCTTGAAAATG
TAA


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>PBLD|64081|protein
MKLPIFIADAFTARAFRGNPAAVCLLENELDEDMHQKIAREMNLSETAFIRKLHPTDNFAQSSCFGLRWFTPASEVPLCGHATLASAAVLFHKIKNMNSTLTFVT
LSGELRARRAEDGIVLDLPLYPAHPQDFHEVEDLIKTAIGNTLVQDICYSPDTQKLLVRLSDVYNRSFLENLKVNTENLLQVENTGKVKGLILTLKGEPGGQTQA
FDFYSRYFAPWVGVAEDPVTGSAHAVLSSYWSQHLGKKEMHGRTALYQFLFYLPNSKLVFLLICTIPLKM


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