AutismKB 2.0

Evidence Details for PDE6B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDE6B ( CSNB3,CSNBAD2,PDEB,RP40,rd1 )
Gene Full Name: phosphodiesterase 6B, cGMP-specific, rod, beta
Band: 4p16.3
Quick LinksEntrez ID:5158; OMIM: 180072; Uniprot ID:PDE6B_HUMAN; ENSEMBL ID: ENSG00000133256; HGNC ID: 8786
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDE6B|5158|nucleotide
ATGAGCCTCAGTGAGGAGCAGGCCCGGAGCTTTCTGGACCAGAACCCCGATTTTGCCCGCCAGTACTTTGGGAAGAAACTGAGCCCTGAGAATGTGGCCGCGGCC
TGCGAGGACGGGTGCCCGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAGGAGAGCACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATC
AACATGGAGCGCGTGGTCTTCAAGGTCCTGCGGCGCCTCTGCACCCTCCTGCAGGCCGACCGCTGCAGCCTCTTCATGTACCGCCAGCGCAACGGCGTGGCCGAG
CTGGCCACCAGGCTTTTCAGCGTGCAGCCGGACAGCGTCCTGGAGGACTGCCTGGTGCCCCCCGACTCCGAGATCGTCTTCCCACTGGACATCGGGGTCGTGGGC
CACGTGGCTCAGACCAAAAAGATGGTGAACGTCGAGGACGTGGCCGAGTGCCCTCACTTCAGCTCATTTGCTGACGAGCTCACTGACTACAAGACAAAGAATATG
CTGGCCACACCCATCATGAATGGCAAAGACGTCGTGGCGGTGATCATGGCAGTGAACAAGCTCAACGGCCCATTCTTCACCAGCGAAGACGAAGATGTGTTCTTG
AAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTGCTGCTGTGGTCGGCCAACAAG
GTGTTTGAGGAGCTGACGGACATCGAGAGGCAGTTCCACAAGGCCTTCTACACGGTGCGGGCCTACCTCAACTGCGAGCGGTACTCCGTGGGCCTCCTGGACATG
ACCAAGGAGAAGGAATTTTTTGACGTGTGGTCTGTGCTGATGGGAGAGTCCCAGCCGTACTCGGGCCCACGCACGCCTGATGGCCGGGAAATTGTCTTCTACAAA
GTGATCGACTACATCCTCCACGGCAAGGAGGAGATCAAGGTCATTCCCACACCCTCAGCCGATCACTGGGCCCTGGCCAGCGGCCTTCCAAGCTACGTGGCAGAA
AGCGGCTTTATTTGTAACATCATGAATGCTTCCGCTGACGAAATGTTCAAATTTCAGGAAGGGGCCCTGGACGACTCCGGGTGGCTCATCAAGAATGTGCTGTCC
Show »

>PDE6B|5158|protein
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVAE
LATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHFSSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFL
KYLNFATLYLKIYHLSYLHNCETRRGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYK
VIDYILHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMES
LTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYY
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (4)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top