Evidence Details for PRKG1
Basic Information Top
| Gene Symbol: | PRKG1 ( CGKI,DKFZp686K042,FLJ36117,MGC71944,PGK,PKG,PRKG1B,PRKGR1B,cGKI-BETA,cGKI-alpha ) |
|---|---|
| Gene Full Name: | protein kinase, cGMP-dependent, type I |
| Band: | 10q11.23-q21.1 |
| Quick Links | Entrez ID:5592; OMIM: 176894; Uniprot ID:KGP1_HUMAN; ENSEMBL ID: ENSG00000185532; HGNC ID: 9414 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRKG1|5592|nucleotide
ATGAGCGAGCTAGAGGAAGACTTTGCCAAGATTCTCATGCTCAAGGAGGAGAGGATCAAAGAGCTGGAGAAGCGGCTGTCAGAGAAGGAGGAAGAAATTCAGGAG
CTGAAGAGGAAACTCCACAAATGCCAGTCGGTGCTCCCAGTGCCCTCGACCCACATCGGCCCCCGGACCACCCGGGCGCAGGGCATCTCGGCCGAGCCGCAGACG
TACAGGTCCTTCCACGACCTCCGACAGGCATTCCGGAAGTTCACCAAGTCCGAAAGGTCCAAGGATCTTATAAAGGAAGCTATCCTTGACAATGACTTTATGAAG
AACTTGGAGCTGTCGCAGATCCAGGAGATTGTGGATTGTATGTACCCGGTGGAGTATGGCAAGGACAGTTGCATCATCAAAGAAGGAGACGTGGGGTCACTGGTG
TATGTCATGGAAGATGGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTGTTTGGGGAATTGGCTATTCTTTACAACTGT
ACCCGGACAGCGACCGTCAAGACTCTTGTAAATGTAAAACTCTGGGCCATTGATCGACAATGTTTTCAAACAATAATGATGAGGACAGGACTCATCAAGCATACC
GAGTATATGGAATTTTTAAAAAGCGTTCCAACATTCCAGAGCCTTCCTGAAGAGATCCTCAGCAAGCTTGCTGATGTCCTTGAAGAGACCCACTATGAAAATGGA
GAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAATGTCACTCGTGAAGACTCACCGAGTGAAGACCCAGTCTTT
CTTAGAACTTTAGGAAAAGGAGACTGGTTTGGAGAGAAAGCCTTGCAGGGGGAAGATGTGAGAACAGCAAACGTAATTGCTGCAGAAGCTGTAACCTGCCTTGTG
ATTGACAGAGACTCTTTTAAACATTTGATTGGAGGGCTGGATGATGTTTCTAATAAAGCATATGAAGATGCAGAAGCTAAAGCAAAATATGAAGCTGAAGCGGCT
TTCTTCGCCAACCTGAAGCTGTCTGATTTCAACATCATTGATACCCTTGGAGTTGGAGGTTTCGGACGAGTAGAACTGGTCCAGTTGAAAAGTGAAGAATCCAAA
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ATGAGCGAGCTAGAGGAAGACTTTGCCAAGATTCTCATGCTCAAGGAGGAGAGGATCAAAGAGCTGGAGAAGCGGCTGTCAGAGAAGGAGGAAGAAATTCAGGAG
CTGAAGAGGAAACTCCACAAATGCCAGTCGGTGCTCCCAGTGCCCTCGACCCACATCGGCCCCCGGACCACCCGGGCGCAGGGCATCTCGGCCGAGCCGCAGACG
TACAGGTCCTTCCACGACCTCCGACAGGCATTCCGGAAGTTCACCAAGTCCGAAAGGTCCAAGGATCTTATAAAGGAAGCTATCCTTGACAATGACTTTATGAAG
AACTTGGAGCTGTCGCAGATCCAGGAGATTGTGGATTGTATGTACCCGGTGGAGTATGGCAAGGACAGTTGCATCATCAAAGAAGGAGACGTGGGGTCACTGGTG
TATGTCATGGAAGATGGTAAGGTTGAAGTTACAAAAGAAGGTGTGAAGTTGTGTACCATGGGTCCAGGAAAAGTGTTTGGGGAATTGGCTATTCTTTACAACTGT
ACCCGGACAGCGACCGTCAAGACTCTTGTAAATGTAAAACTCTGGGCCATTGATCGACAATGTTTTCAAACAATAATGATGAGGACAGGACTCATCAAGCATACC
GAGTATATGGAATTTTTAAAAAGCGTTCCAACATTCCAGAGCCTTCCTGAAGAGATCCTCAGCAAGCTTGCTGATGTCCTTGAAGAGACCCACTATGAAAATGGA
GAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAATGTCACTCGTGAAGACTCACCGAGTGAAGACCCAGTCTTT
CTTAGAACTTTAGGAAAAGGAGACTGGTTTGGAGAGAAAGCCTTGCAGGGGGAAGATGTGAGAACAGCAAACGTAATTGCTGCAGAAGCTGTAACCTGCCTTGTG
ATTGACAGAGACTCTTTTAAACATTTGATTGGAGGGCTGGATGATGTTTCTAATAAAGCATATGAAGATGCAGAAGCTAAAGCAAAATATGAAGCTGAAGCGGCT
TTCTTCGCCAACCTGAAGCTGTCTGATTTCAACATCATTGATACCCTTGGAGTTGGAGGTTTCGGACGAGTAGAACTGGTCCAGTTGAAAAGTGAAGAATCCAAA
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>PRKG1|5592|protein
MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTRAQGISAEPQTYRSFHDLRQAFRKFTKSERSKDLIKEAILDNDFMK
NLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHT
EYMEFLKSVPTFQSLPEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLV
IDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDF
IVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYV
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MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTRAQGISAEPQTYRSFHDLRQAFRKFTKSERSKDLIKEAILDNDFMK
NLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHT
EYMEFLKSVPTFQSLPEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLV
IDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDF
IVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYV
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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 | 1 (1) | 1 (5) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 8 (8) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Sebat, 2007 | USA | aCGH | |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top