AutismKB 2.0

Evidence Details for CAMK1G


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CAMK1G ( CLICKIII,VWS1,dJ272L16.1 )
Gene Full Name: calcium/calmodulin-dependent protein kinase IG
Band: 1q32.2
Quick LinksEntrez 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
Show »

>CAMK1G|57172|protein
MGRKEEDDCSSWKKQTTNIRKTFIFMEVLGSGAFSEVFLVKQRLTGKLFALKCIKKSPAFRDSSLENEIAVLKKIKHENIVTLEDIYESTTHYYLVMQLVSGGEL
FDRILERGVYTEKDASLVIQQVLSAVKYLHENGIVHRDLKPENLLYLTPEENSKIMITDFGLSKMEQNGIMSTACGTPGYVAPEVLAQKPYSKAVDCWSIGVITY
ILLCGYPPFYEETESKLFEKIKEGYYEFESPFWDDISESAKDFICHLLEKDPNERYTCEKALSHPWIDGNTALHRDIYPSVSLQIQKNFAKSKWRQAFNAAAVVH
HMRKLHMNLHSPGVRPEVENRPPETQASETSRPSSPEITITEAPVLDHSVALPALTQLPCQHGRRPTAPGGRSLNCLVNGSLHISSSLVPMHQGSLAAGPCGCCS
SCLNIGSKGKSSYCSEPTLLKKANKKQNFKSEVMVPVKASGSSHCRAGQTGVCLIM
Show »

Evidence summary Top

Click 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) 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
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1804339
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.696983 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1804339
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.693085 Down 0.0241376
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1804339
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
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

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018