AutismKB 2.0

Evidence Details for PDE1B


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Basic Information Top
Gene Symbol:PDE1B ( PDE1B1,PDES1B )
Gene Full Name: phosphodiesterase 1B, calmodulin-dependent
Band: 12q13.2
Quick LinksEntrez ID:5153; OMIM: 171891; Uniprot ID:PDE1B_HUMAN; ENSEMBL ID: ENSG00000123360; HGNC ID: 8775
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDE1B|5153|nucleotide
ATGGAGCTGTCCCCCCGCAGTCCTCCGGAGATGCTGGAGGAGTCGGATTGCCCGTCACCCCTGGAGCTGAAGTCAGCCCCCAGCAAGAAGATGTGGATTAAGCTT
CGGTCTCTGCTGCGCTACATGGTGAAGCAGTTGGAGAATGGGGAGATAAACATTGAGGAGCTGAAGAAAAATCTGGAGTACACAGCTTCTCTGCTGGAAGCCGTC
TACATAGATGAGACACGGCAAATCTTGGACACGGAGGACGAGCTGCAGGAGCTGCGGTCAGATGCCGTGCCTTCGGAGGTGCGGGACTGGCTGGCCTCCACCTTC
ACCCAGCAGGCCCGGGCCAAAGGCCGCCGAGCAGAGGAGAAGCCCAAGTTCCGAAGCATTGTGCACGCTGTGCAGGCTGGGATCTTCGTGGAACGGATGTTCCGG
AGAACATACACCTCTGTGGGCCCCACTTACTCTACTGCGGTTCTCAACTGTCTCAAGAACCTGGATCTCTGGTGCTTTGATGTCTTTTCCTTGAACCAGGCAGCA
GATGACCATGCCCTGAGGACCATTGTTTTTGAGTTGCTGACTCGGCATAACCTCATCAGCCGCTTCAAGATTCCCACTGTGTTTTTGATGAGTTTCCTGGATGCC
TTGGAGACAGGCTATGGGAAGTACAAGAATCCTTACCACAACCAGATCCACGCAGCCGATGTTACCCAGACAGTCCATTGCTTCTTGCTCCGCACAGGGATGGTG
CACTGCCTGTCGGAGATTGAGCTCCTGGCCATCATCTTTGCTGCAGCTATCCATGATTATGAGCACACGGGCACTACCAACAGCTTCCACATCCAGACCAAGTCA
GAATGTGCCATCGTGTACAATGATCGTTCAGTGCTGGAGAATCACCACATCAGCTCTGTTTTCCGATTGATGCAGGATGATGAGATGAACATTTTCATCAACCTC
ACCAAGGATGAGTTTGTAGAACTCCGAGCCCTGGTCATTGAGATGGTGTTGGCCACAGACATGTCCTGCCATTTCCAGCAAGTGAAGACCATGAAGACAGCCTTG
CAACAGCTGGAGAGGATTGACAAGCCCAAGGCCCTGTCTCTACTGCTCCATGCTGCTGACATCAGCCACCCAACCAAGCAGTGGTTGGTCCACAGCCGTTGGACC
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>PDE1B|5153|protein
MELSPRSPPEMLEESDCPSPLELKSAPSKKMWIKLRSLLRYMVKQLENGEINIEELKKNLEYTASLLEAVYIDETRQILDTEDELQELRSDAVPSEVRDWLASTF
TQQARAKGRRAEEKPKFRSIVHAVQAGIFVERMFRRTYTSVGPTYSTAVLNCLKNLDLWCFDVFSLNQAADDHALRTIVFELLTRHNLISRFKIPTVFLMSFLDA
LETGYGKYKNPYHNQIHAADVTQTVHCFLLRTGMVHCLSEIELLAIIFAAAIHDYEHTGTTNSFHIQTKSECAIVYNDRSVLENHHISSVFRLMQDDEMNIFINL
TKDEFVELRALVIEMVLATDMSCHFQQVKTMKTALQQLERIDKPKALSLLLHAADISHPTKQWLVHSRWTKALMEEFFRQGDKEAELGLPFSPLCDRTSTLVAQS
QIGFIDFIVEPTFSVLTDVAEKSVQPLADEDSKSKNQPSFQWRQPSLDVEVGDPNPDVVSFRSTWVKRIQENKQKWKERAASGITNQMSIDELSPCEEEAPPSPA
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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) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 11 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top