CNIH3
Basic information
Region (hg38): 1:224434659-224740554
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNIH3 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 9 | 0 | 0 |
Variants in CNIH3
This is a list of pathogenic ClinVar variants found in the CNIH3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-224435176-C-G | Benign (Oct 01, 2022) | |||
| 1-224454289-T-C | Benign (Aug 01, 2022) | |||
| 1-224617190-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| 1-224617242-T-G | not specified | Uncertain significance (May 31, 2022) | ||
| 1-224680980-G-C | not specified | Uncertain significance (May 03, 2023) | ||
| 1-224680992-A-G | not specified | Uncertain significance (Dec 27, 2023) | ||
| 1-224681018-G-A | not specified | Uncertain significance (Nov 15, 2021) | ||
| 1-224681025-C-A | not specified | Uncertain significance (Aug 12, 2021) | ||
| 1-224684807-G-C | not specified | Uncertain significance (May 23, 2023) | ||
| 1-224684821-G-A | not specified | Uncertain significance (Apr 05, 2023) | ||
| 1-224734627-G-A | not specified | Uncertain significance (Feb 28, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CNIH3 | protein_coding | protein_coding | ENST00000272133 | 6 | 305890 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.845 | 0.154 | 125736 | 0 | 4 | 125740 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.683 | 72 | 90.3 | 0.798 | 0.00000470 | 1050 |
| Missense in Polyphen | 23 | 33 | 0.69697 | 382 | ||
| Synonymous | 1.28 | 26 | 35.8 | 0.727 | 0.00000208 | 286 |
| Loss of Function | 2.72 | 1 | 10.5 | 0.0951 | 5.40e-7 | 110 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000176 | 0.0000176 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. {ECO:0000269|PubMed:20805473}.;
- Pathway
- Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Cargo concentration in the ER;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;COPII-mediated vesicle transport;ER to Golgi Anterograde Transport
(Consensus)
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.388
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 49.39
Haploinsufficiency Scores
- pHI
- 0.247
- hipred
- Y
- hipred_score
- 0.566
- ghis
- 0.596
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.363
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cnih3
- 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); normal phenotype;
Gene ontology
- Biological process
- endoplasmic reticulum to Golgi vesicle-mediated transport;synaptic transmission, glutamatergic;regulation of membrane potential;COPII vesicle coating;regulation of AMPA receptor activity
- Cellular component
- Golgi membrane;endoplasmic reticulum membrane;ER to Golgi transport vesicle membrane;cell junction;AMPA glutamate receptor complex;endoplasmic reticulum-Golgi intermediate compartment membrane;dendritic shaft;postsynaptic membrane
- Molecular function
- channel regulator activity