Evidence Details for PIK3CG
Basic Information Top
Gene Symbol: | PIK3CG ( PI3CG,PI3K,PI3Kgamma,PIK3 ) |
---|---|
Gene Full Name: | phosphoinositide-3-kinase, catalytic, gamma polypeptide |
Band: | 7q22.3 |
Quick Links | Entrez ID:5294; OMIM: 601232; Uniprot ID:PK3CG_HUMAN; ENSEMBL ID: ENSG00000105851; HGNC ID: 8978 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PIK3CG|5294|nucleotide
ATGGAGCTGGAGAACTATAAACAGCCCGTGGTGCTGAGAGAGGACAACTGCCGAAGGCGCCGGAGGATGAAGCCGCGCAGTGCTGCGGCCAGCCTGTCCTCCATG
GAGCTCATCCCCATCGAGTTCGTGCTGCCCACCAGCCAGCGCAAATGCAAGAGCCCCGAAACGGCGCTGCTGCACGTGGCCGGCCACGGCAACGTGGAGCAGATG
AAGGCCCAGGTGTGGCTGCGAGCGCTGGAGACCAGCGTGGCGGCGGACTTCTACCACCGGCTGGGACCGCATCACTTCCTCCTGCTCTATCAGAAGAAGGGGCAG
TGGTACGAGATCTACGACAAGTACCAGGTGGTGCAGACTCTGGACTGCCTGCGCTACTGGAAGGCCACGCACCGGAGCCCGGGCCAGATCCACCTGGTGCAGCGG
CACCCGCCCTCCGAGGAGTCCCAAGCCTTCCAGCGGCAGCTCACGGCGCTGATTGGCTATGACGTCACTGACGTCAGCAACGTGCACGACGATGAGCTGGAGTTC
ACGCGCCGTGGCTTGGTGACCCCGCGCATGGCGGAGGTGGCCAGCCGCGACCCCAAGCTCTACGCCATGCACCCGTGGGTGACGTCCAAGCCCCTCCCGGAGTAC
CTGTGGAAGAAGATTGCCAACAACTGCATCTTCATCGTCATTCACCGCAGCACCACCAGCCAGACCATTAAGGTCTCACCCGACGACACCCCCGGCGCCATCCTG
CAGAGCTTCTTCACCAAGATGGCCAAGAAGAAATCTCTGATGGATATTCCCGAAAGCCAAAGCGAACAGGATTTTGTGCTGCGCGTCTGTGGCCGGGATGAGTAC
CTGGTGGGCGAAACGCCCATCAAAAACTTCCAGTGGGTGAGGCACTGCCTCAAGAACGGAGAAGAGATTCACGTGGTACTGGACACGCCTCCAGACCCGGCCCTA
GACGAGGTGAGGAAGGAAGAGTGGCCGCTGGTGGATGACTGCACGGGAGTCACCGGCTACCATGAGCAGCTTACCATCCACGGCAAGGACCACGAGAGTGTGTTC
ACCGTGTCCCTGTGGGACTGCGACCGCAAGTTCAGGGTCAAGATCAGAGGCATTGATATCCCCGTCCTGCCTCGGAACACCGACCTCACAGTTTTTGTAGAGGCA
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ATGGAGCTGGAGAACTATAAACAGCCCGTGGTGCTGAGAGAGGACAACTGCCGAAGGCGCCGGAGGATGAAGCCGCGCAGTGCTGCGGCCAGCCTGTCCTCCATG
GAGCTCATCCCCATCGAGTTCGTGCTGCCCACCAGCCAGCGCAAATGCAAGAGCCCCGAAACGGCGCTGCTGCACGTGGCCGGCCACGGCAACGTGGAGCAGATG
AAGGCCCAGGTGTGGCTGCGAGCGCTGGAGACCAGCGTGGCGGCGGACTTCTACCACCGGCTGGGACCGCATCACTTCCTCCTGCTCTATCAGAAGAAGGGGCAG
TGGTACGAGATCTACGACAAGTACCAGGTGGTGCAGACTCTGGACTGCCTGCGCTACTGGAAGGCCACGCACCGGAGCCCGGGCCAGATCCACCTGGTGCAGCGG
CACCCGCCCTCCGAGGAGTCCCAAGCCTTCCAGCGGCAGCTCACGGCGCTGATTGGCTATGACGTCACTGACGTCAGCAACGTGCACGACGATGAGCTGGAGTTC
ACGCGCCGTGGCTTGGTGACCCCGCGCATGGCGGAGGTGGCCAGCCGCGACCCCAAGCTCTACGCCATGCACCCGTGGGTGACGTCCAAGCCCCTCCCGGAGTAC
CTGTGGAAGAAGATTGCCAACAACTGCATCTTCATCGTCATTCACCGCAGCACCACCAGCCAGACCATTAAGGTCTCACCCGACGACACCCCCGGCGCCATCCTG
CAGAGCTTCTTCACCAAGATGGCCAAGAAGAAATCTCTGATGGATATTCCCGAAAGCCAAAGCGAACAGGATTTTGTGCTGCGCGTCTGTGGCCGGGATGAGTAC
CTGGTGGGCGAAACGCCCATCAAAAACTTCCAGTGGGTGAGGCACTGCCTCAAGAACGGAGAAGAGATTCACGTGGTACTGGACACGCCTCCAGACCCGGCCCTA
GACGAGGTGAGGAAGGAAGAGTGGCCGCTGGTGGATGACTGCACGGGAGTCACCGGCTACCATGAGCAGCTTACCATCCACGGCAAGGACCACGAGAGTGTGTTC
ACCGTGTCCCTGTGGGACTGCGACCGCAAGTTCAGGGTCAAGATCAGAGGCATTGATATCCCCGTCCTGCCTCGGAACACCGACCTCACAGTTTTTGTAGAGGCA
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>PIK3CG|5294|protein
MELENYKQPVVLREDNCRRRRRMKPRSAAASLSSMELIPIEFVLPTSQRKCKSPETALLHVAGHGNVEQMKAQVWLRALETSVAADFYHRLGPHHFLLLYQKKGQ
WYEIYDKYQVVQTLDCLRYWKATHRSPGQIHLVQRHPPSEESQAFQRQLTALIGYDVTDVSNVHDDELEFTRRGLVTPRMAEVASRDPKLYAMHPWVTSKPLPEY
LWKKIANNCIFIVIHRSTTSQTIKVSPDDTPGAILQSFFTKMAKKKSLMDIPESQSEQDFVLRVCGRDEYLVGETPIKNFQWVRHCLKNGEEIHVVLDTPPDPAL
DEVRKEEWPLVDDCTGVTGYHEQLTIHGKDHESVFTVSLWDCDRKFRVKIRGIDIPVLPRNTDLTVFVEANIQHGQQVLCQRRTSPKPFTEEVLWNVWLEFSIKI
KDLPKGALLNLQIYCGKAPALSSKASAESPSSESKGKVQLLYYVNLLLIDHRFLLRRGEYVLHMWQISGKGEDQGSFNADKLTSATNPDKENSMSISILLDNYCH
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MELENYKQPVVLREDNCRRRRRMKPRSAAASLSSMELIPIEFVLPTSQRKCKSPETALLHVAGHGNVEQMKAQVWLRALETSVAADFYHRLGPHHFLLLYQKKGQ
WYEIYDKYQVVQTLDCLRYWKATHRSPGQIHLVQRHPPSEESQAFQRQLTALIGYDVTDVSNVHDDELEFTRRGLVTPRMAEVASRDPKLYAMHPWVTSKPLPEY
LWKKIANNCIFIVIHRSTTSQTIKVSPDDTPGAILQSFFTKMAKKKSLMDIPESQSEQDFVLRVCGRDEYLVGETPIKNFQWVRHCLKNGEEIHVVLDTPPDPAL
DEVRKEEWPLVDDCTGVTGYHEQLTIHGKDHESVFTVSLWDCDRKFRVKIRGIDIPVLPRNTDLTVFVEANIQHGQQVLCQRRTSPKPFTEEVLWNVWLEFSIKI
KDLPKGALLNLQIYCGKAPALSSKASAESPSSESKGKVQLLYYVNLLLIDHRFLLRRGEYVLHMWQISGKGEDQGSFNADKLTSATNPDKENSMSISILLDNYCH
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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) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
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 | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
MIXED/OTHERS | ||||||||||
Serajee, 2003_1 | AGRE | Orchid BioSciences' SNP stream UHT services | 196 | 196 (22.96%) | AD | 7 - |
- - |
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 Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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