CAMK1G

calcium/calmodulin dependent protein kinase IG, the group of Calmodulin dependent protein kinases

Basic information

Region (hg38): 1:209583714-209613939

Links

ENSG00000008118 ∙ NCBI:57172 ∙ OMIM:614994 ∙ HGNC:14585 ∙ Uniprot:Q96NX5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAMK1G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMK1G gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in CAMK1G

This is a list of pathogenic ClinVar variants found in the CAMK1G region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-209595017-T-C		not specified	Uncertain significance (Dec 28, 2022)
1-209595036-A-G		not specified	Uncertain significance (Oct 17, 2023)
1-209599996-G-C		not specified	Uncertain significance (Nov 02, 2023)
1-209600032-C-T		not specified	Uncertain significance (Oct 04, 2024)
1-209600033-T-A		not specified	Uncertain significance (Nov 21, 2024)
1-209600071-C-T		not specified	Uncertain significance (Aug 08, 2022)
1-209605556-T-C		not specified	Uncertain significance (Jul 30, 2024)
1-209605562-G-A		not specified	Uncertain significance (Nov 17, 2022)
1-209605574-G-A		not specified	Uncertain significance (Mar 21, 2022)
1-209605574-G-T		not specified	Uncertain significance (Jun 18, 2021)
1-209609892-G-A		not specified	Uncertain significance (Dec 06, 2021)
1-209609913-G-A		not specified	Uncertain significance (Dec 13, 2022)
1-209609914-C-A		not specified	Uncertain significance (Dec 13, 2022)
1-209611528-G-T		not specified	Uncertain significance (Oct 26, 2021)
1-209611542-G-T		not specified	Uncertain significance (Feb 22, 2023)
1-209611796-C-T		not specified	Uncertain significance (Mar 15, 2024)
1-209611829-G-A		not specified	Uncertain significance (Jan 23, 2023)
1-209611841-T-A		not specified	Uncertain significance (Apr 14, 2022)
1-209611886-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-209611928-C-T		not specified	Uncertain significance (Apr 04, 2024)
1-209611939-A-G		not specified	Uncertain significance (Jul 30, 2024)
1-209611988-C-A		not specified	Uncertain significance (Sep 19, 2022)
1-209612012-G-A		not specified	Uncertain significance (Apr 25, 2022)
1-209612014-C-T		not specified	Uncertain significance (Jan 22, 2024)
1-209612015-G-A		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMK1G	protein_coding	protein_coding	ENST00000009105	11	30222

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000398	0.998	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.59	196	270	0.727	0.0000149	3124
Missense in Polyphen		63	125.13	0.50349		1461
Synonymous	-1.14	122	107	1.14	0.00000602	910
Loss of Function	2.74	10	24.7	0.405	0.00000121	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity). {ECO:0000250}.
• Pathway: Aldosterone synthesis and secretion - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.475
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.73

Haploinsufficiency Scores

• pHI: 0.434
• hipred: Y
• hipred_score: 0.544
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.398

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Camk1g
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: camk1gb
• Affected structure: epiphysis
• Phenotype tag: abnormal
• Phenotype quality: decreased magnitude

Gene ontology

• Biological process: protein phosphorylation
• Cellular component: Golgi membrane;plasma membrane;calcium- and calmodulin-dependent protein kinase complex;neuron projection
• Molecular function: calmodulin-dependent protein kinase activity;calmodulin binding;ATP binding