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.

not_specified (62 variants)

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. These statistics are base on transcript: NM_000020439.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			59 clinvar	2 clinvar		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	3	0

Loading clinvar variants...

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