Evidence Details for PDE1A
Basic Information Top
| Gene Symbol: | PDE1A ( HCAM1,HSPDE1A,MGC26303 ) |
|---|---|
| Gene Full Name: | phosphodiesterase 1A, calmodulin-dependent |
| Band: | 2q32.1 |
| Quick Links | Entrez ID:5136; OMIM: 171890; Uniprot ID:PDE1A_HUMAN; ENSEMBL ID: ENSG00000115252; HGNC ID: 8774 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PDE1A|5136|nucleotide
ATGGGGTCTAGTGCCACAGAGATTGAAGAATTGGAAAACACCACTTTTAAGTATCTTACAGGAGAACAGACTGAAAAAATGTGGCAGCGCCTGAAAGGAATACTA
AGATGCTTGGTGAAGCAGCTGGAAAGAGGTGATGTTAACGTCGTCGACTTAAAGAAGAATATTGAATATGCGGCATCTGTGCTGGAAGCAGTTTATATCGATGAA
ACAAGAAGACTTCTGGATACTGAAGATGAGCTCAGTGACATTCAGACTGACTCAGTCCCATCTGAAGTCCGGGACTGGTTGGCTTCTACCTTTACACGGAAAATG
GGGATGACAAAAAAGAAACCTGAGGAAAAACCAAAATTTCGGAGCATTGTGCATGCTGTTCAAGCTGGAATTTTTGTGGAAAGAATGTACCGAAAAACATATCAT
ATGGTTGGTTTGGCATATCCAGCAGCTGTCATCGTAACATTAAAGGATGTTGATAAATGGTCTTTCGATGTATTTGCCCTAAATGAAGCAAGTGGAGAGCATAGT
CTGAAGTTTATGATTTATGAACTGTTTACCAGATATGATCTTATCAACCGTTTCAAGATTCCTGTTTCTTGCCTAATCACCTTTGCAGAAGCTTTAGAAGTTGGT
TACAGCAAGTACAAAAATCCATATCACAATTTGATTCATGCAGCTGATGTCACTCAAACTGTGCATTACATAATGCTTCATACAGGTATCATGCACTGGCTCACT
GAACTGGAAATTTTAGCAATGGTCTTTGCTGCTGCCATTCATGATTATGAGCATACAGGGACAACAAACAACTTTCACATTCAGACAAGGTCAGATGTTGCCATT
TTGTATAATGATCGCTCTGTCCTTGAGAATCACCACGTGAGTGCAGCTTATCGACTTATGCAAGAAGAAGAAATGAATATCTTGATAAATTTATCCAAAGATGAC
TGGAGGGATCTTCGGAACCTAGTGATTGAAATGGTTTTATCTACAGACATGTCAGGTCACTTCCAGCAAATTAAAAATATAAGAAACAGTTTGCAGCAGCCTGAA
GGGATTGACAGAGCCAAAACCATGTCCCTGATTCTCCACGCAGCAGACATCAGCCACCCAGCCAAATCCTGGAAGCTGCATTATCGGTGGACCATGGCCCTAATG
Show »
ATGGGGTCTAGTGCCACAGAGATTGAAGAATTGGAAAACACCACTTTTAAGTATCTTACAGGAGAACAGACTGAAAAAATGTGGCAGCGCCTGAAAGGAATACTA
AGATGCTTGGTGAAGCAGCTGGAAAGAGGTGATGTTAACGTCGTCGACTTAAAGAAGAATATTGAATATGCGGCATCTGTGCTGGAAGCAGTTTATATCGATGAA
ACAAGAAGACTTCTGGATACTGAAGATGAGCTCAGTGACATTCAGACTGACTCAGTCCCATCTGAAGTCCGGGACTGGTTGGCTTCTACCTTTACACGGAAAATG
GGGATGACAAAAAAGAAACCTGAGGAAAAACCAAAATTTCGGAGCATTGTGCATGCTGTTCAAGCTGGAATTTTTGTGGAAAGAATGTACCGAAAAACATATCAT
ATGGTTGGTTTGGCATATCCAGCAGCTGTCATCGTAACATTAAAGGATGTTGATAAATGGTCTTTCGATGTATTTGCCCTAAATGAAGCAAGTGGAGAGCATAGT
CTGAAGTTTATGATTTATGAACTGTTTACCAGATATGATCTTATCAACCGTTTCAAGATTCCTGTTTCTTGCCTAATCACCTTTGCAGAAGCTTTAGAAGTTGGT
TACAGCAAGTACAAAAATCCATATCACAATTTGATTCATGCAGCTGATGTCACTCAAACTGTGCATTACATAATGCTTCATACAGGTATCATGCACTGGCTCACT
GAACTGGAAATTTTAGCAATGGTCTTTGCTGCTGCCATTCATGATTATGAGCATACAGGGACAACAAACAACTTTCACATTCAGACAAGGTCAGATGTTGCCATT
TTGTATAATGATCGCTCTGTCCTTGAGAATCACCACGTGAGTGCAGCTTATCGACTTATGCAAGAAGAAGAAATGAATATCTTGATAAATTTATCCAAAGATGAC
TGGAGGGATCTTCGGAACCTAGTGATTGAAATGGTTTTATCTACAGACATGTCAGGTCACTTCCAGCAAATTAAAAATATAAGAAACAGTTTGCAGCAGCCTGAA
GGGATTGACAGAGCCAAAACCATGTCCCTGATTCTCCACGCAGCAGACATCAGCCACCCAGCCAAATCCTGGAAGCTGCATTATCGGTGGACCATGGCCCTAATG
Show »
>PDE1A|5136|protein
MGSSATEIEELENTTFKYLTGEQTEKMWQRLKGILRCLVKQLERGDVNVVDLKKNIEYAASVLEAVYIDETRRLLDTEDELSDIQTDSVPSEVRDWLASTFTRKM
GMTKKKPEEKPKFRSIVHAVQAGIFVERMYRKTYHMVGLAYPAAVIVTLKDVDKWSFDVFALNEASGEHSLKFMIYELFTRYDLINRFKIPVSCLITFAEALEVG
YSKYKNPYHNLIHAADVTQTVHYIMLHTGIMHWLTELEILAMVFAAAIHDYEHTGTTNNFHIQTRSDVAILYNDRSVLENHHVSAAYRLMQEEEMNILINLSKDD
WRDLRNLVIEMVLSTDMSGHFQQIKNIRNSLQQPEGIDRAKTMSLILHAADISHPAKSWKLHYRWTMALMEEFFLQGDKEAELGLPFSPLCDRKSTMVAQSQIGF
IDFIVEPTFSLLTDSTEKIVIPLIEEASKAETSSYVASSSTTIVGLHIADALRRSNTKGSMSDGSYSPDYSLAAVDLKSFKNNLVDIIQQNKERWKELAAQEART
Show »
MGSSATEIEELENTTFKYLTGEQTEKMWQRLKGILRCLVKQLERGDVNVVDLKKNIEYAASVLEAVYIDETRRLLDTEDELSDIQTDSVPSEVRDWLASTFTRKM
GMTKKKPEEKPKFRSIVHAVQAGIFVERMYRKTYHMVGLAYPAAVIVTLKDVDKWSFDVFALNEASGEHSLKFMIYELFTRYDLINRFKIPVSCLITFAEALEVG
YSKYKNPYHNLIHAADVTQTVHYIMLHTGIMHWLTELEILAMVFAAAIHDYEHTGTTNNFHIQTRSDVAILYNDRSVLENHHVSAAYRLMQEEEMNILINLSKDD
WRDLRNLVIEMVLSTDMSGHFQQIKNIRNSLQQPEGIDRAKTMSLILHAADISHPAKSWKLHYRWTMALMEEFFLQGDKEAELGLPFSPLCDRKSTMVAQSQIGF
IDFIVEPTFSLLTDSTEKIVIPLIEEASKAETSSYVASSSTTIVGLHIADALRRSNTKGSMSDGSYSPDYSLAAVDLKSFKNNLVDIIQQNKERWKELAAQEART
Show »
Evidence summary TopClick 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) | 1 (2) | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gallagher, 2003 | - | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 2
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Rabionet, 2004_1 | CAT, AGRE | TaqMan Method | 406 | - (-) | | | ASD | - - |
- - | |
| Ramoz, 2008_1 | USA, AGRE | - | 334 | 610 (21.64%) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.