Evidence Details for CAMK1G
Basic Information Top
Gene Symbol: | CAMK1G ( CLICKIII,VWS1,dJ272L16.1 ) |
---|---|
Gene Full Name: | calcium/calmodulin-dependent protein kinase IG |
Band: | 1q32.2 |
Quick Links | Entrez ID:57172; OMIM: NA; Uniprot ID:KCC1G_HUMAN; ENSEMBL ID: ENSG00000008118; HGNC ID: 14585 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CAMK1G|57172|nucleotide
ATGGGTCGAAAGGAAGAAGATGACTGCAGTTCCTGGAAGAAACAGACCACCAACATCCGGAAAACCTTCATTTTTATGGAAGTGCTGGGATCAGGAGCTTTCTCA
GAAGTTTTCCTGGTGAAGCAAAGACTGACTGGGAAGCTCTTTGCTCTGAAGTGCATCAAGAAGTCACCTGCCTTCCGGGACAGCAGCCTGGAGAATGAGATTGCT
GTGTTGAAAAAGATCAAGCATGAAAACATTGTGACCCTGGAGGACATCTATGAGAGCACCACCCACTACTACCTGGTCATGCAGCTTGTTTCTGGTGGGGAGCTC
TTTGACCGGATCCTGGAGCGGGGTGTCTACACAGAGAAGGATGCCAGTCTGGTGATCCAGCAGGTCTTGTCGGCAGTGAAATACCTACATGAGAATGGCATCGTC
CACAGAGACTTAAAGCCCGAAAACCTGCTTTACCTTACCCCTGAAGAGAACTCTAAGATCATGATCACTGACTTTGGTCTGTCCAAGATGGAACAGAATGGCATC
ATGTCCACTGCCTGTGGGACCCCAGGCTACGTGGCTCCAGAAGTGCTGGCCCAGAAACCCTACAGCAAGGCTGTGGATTGCTGGTCCATCGGCGTCATCACCTAC
ATATTGCTCTGTGGATACCCCCCATTCTATGAAGAAACGGAGTCTAAGCTTTTCGAGAAGATCAAGGAGGGCTACTATGAGTTTGAGTCTCCATTCTGGGATGAC
ATTTCTGAGTCAGCCAAGGACTTTATTTGCCACTTGCTTGAGAAGGATCCGAACGAGCGGTACACCTGTGAGAAGGCCTTGAGTCATCCCTGGATTGACGGAAAC
ACAGCCCTCCACCGGGACATCTACCCATCAGTCAGCCTCCAGATCCAGAAGAACTTTGCTAAGAGCAAGTGGAGGCAAGCCTTCAACGCAGCAGCTGTGGTGCAC
CACATGAGGAAGCTACACATGAACCTGCACAGCCCGGGCGTCCGCCCAGAGGTGGAGAACAGGCCGCCTGAAACTCAAGCCTCAGAAACCTCTAGACCCAGCTCC
CCTGAGATCACCATCACCGAGGCACCTGTCCTGGACCACAGTGTAGCACTCCCTGCCCTGACCCAATTACCCTGCCAGCATGGCCGCCGGCCCACTGCCCCTGGT
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ATGGGTCGAAAGGAAGAAGATGACTGCAGTTCCTGGAAGAAACAGACCACCAACATCCGGAAAACCTTCATTTTTATGGAAGTGCTGGGATCAGGAGCTTTCTCA
GAAGTTTTCCTGGTGAAGCAAAGACTGACTGGGAAGCTCTTTGCTCTGAAGTGCATCAAGAAGTCACCTGCCTTCCGGGACAGCAGCCTGGAGAATGAGATTGCT
GTGTTGAAAAAGATCAAGCATGAAAACATTGTGACCCTGGAGGACATCTATGAGAGCACCACCCACTACTACCTGGTCATGCAGCTTGTTTCTGGTGGGGAGCTC
TTTGACCGGATCCTGGAGCGGGGTGTCTACACAGAGAAGGATGCCAGTCTGGTGATCCAGCAGGTCTTGTCGGCAGTGAAATACCTACATGAGAATGGCATCGTC
CACAGAGACTTAAAGCCCGAAAACCTGCTTTACCTTACCCCTGAAGAGAACTCTAAGATCATGATCACTGACTTTGGTCTGTCCAAGATGGAACAGAATGGCATC
ATGTCCACTGCCTGTGGGACCCCAGGCTACGTGGCTCCAGAAGTGCTGGCCCAGAAACCCTACAGCAAGGCTGTGGATTGCTGGTCCATCGGCGTCATCACCTAC
ATATTGCTCTGTGGATACCCCCCATTCTATGAAGAAACGGAGTCTAAGCTTTTCGAGAAGATCAAGGAGGGCTACTATGAGTTTGAGTCTCCATTCTGGGATGAC
ATTTCTGAGTCAGCCAAGGACTTTATTTGCCACTTGCTTGAGAAGGATCCGAACGAGCGGTACACCTGTGAGAAGGCCTTGAGTCATCCCTGGATTGACGGAAAC
ACAGCCCTCCACCGGGACATCTACCCATCAGTCAGCCTCCAGATCCAGAAGAACTTTGCTAAGAGCAAGTGGAGGCAAGCCTTCAACGCAGCAGCTGTGGTGCAC
CACATGAGGAAGCTACACATGAACCTGCACAGCCCGGGCGTCCGCCCAGAGGTGGAGAACAGGCCGCCTGAAACTCAAGCCTCAGAAACCTCTAGACCCAGCTCC
CCTGAGATCACCATCACCGAGGCACCTGTCCTGGACCACAGTGTAGCACTCCCTGCCCTGACCCAATTACCCTGCCAGCATGGCCGCCGGCCCACTGCCCCTGGT
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>CAMK1G|57172|protein
MGRKEEDDCSSWKKQTTNIRKTFIFMEVLGSGAFSEVFLVKQRLTGKLFALKCIKKSPAFRDSSLENEIAVLKKIKHENIVTLEDIYESTTHYYLVMQLVSGGEL
FDRILERGVYTEKDASLVIQQVLSAVKYLHENGIVHRDLKPENLLYLTPEENSKIMITDFGLSKMEQNGIMSTACGTPGYVAPEVLAQKPYSKAVDCWSIGVITY
ILLCGYPPFYEETESKLFEKIKEGYYEFESPFWDDISESAKDFICHLLEKDPNERYTCEKALSHPWIDGNTALHRDIYPSVSLQIQKNFAKSKWRQAFNAAAVVH
HMRKLHMNLHSPGVRPEVENRPPETQASETSRPSSPEITITEAPVLDHSVALPALTQLPCQHGRRPTAPGGRSLNCLVNGSLHISSSLVPMHQGSLAAGPCGCCS
SCLNIGSKGKSSYCSEPTLLKKANKKQNFKSEVMVPVKASGSSHCRAGQTGVCLIM
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MGRKEEDDCSSWKKQTTNIRKTFIFMEVLGSGAFSEVFLVKQRLTGKLFALKCIKKSPAFRDSSLENEIAVLKKIKHENIVTLEDIYESTTHYYLVMQLVSGGEL
FDRILERGVYTEKDASLVIQQVLSAVKYLHENGIVHRDLKPENLLYLTPEENSKIMITDFGLSKMEQNGIMSTACGTPGYVAPEVLAQKPYSKAVDCWSIGVITY
ILLCGYPPFYEETESKLFEKIKEGYYEFESPFWDDISESAKDFICHLLEKDPNERYTCEKALSHPWIDGNTALHRDIYPSVSLQIQKNFAKSKWRQAFNAAAVVH
HMRKLHMNLHSPGVRPEVENRPPETQASETSRPSSPEITITEAPVLDHSVALPALTQLPCQHGRRPTAPGGRSLNCLVNGSLHISSSLVPMHQGSLAAGPCGCCS
SCLNIGSKGKSSYCSEPTLLKKANKKQNFKSEVMVPVKASGSSHCRAGQTGVCLIM
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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 (0) | 0 (0) | 0 (0) | 3 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 3
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | - | AD | 22 (13.64%) |
-1.38 | Down | 0.127 | |||
| ||||||||||||
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.696983 | Down | - | |||
| ||||||||||||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | - | autism | 6 (0.00%) |
0.693085 | Down | 0.0241376 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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