C1QL1
Basic information
Region (hg38): 17:44959693-44968303
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 C1QL1 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 | 14 | 14 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 14 | 0 | 0 |
Variants in C1QL1
This is a list of pathogenic ClinVar variants found in the C1QL1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-44960201-A-G | not specified | Uncertain significance (May 23, 2023) | ||
17-44960289-C-G | not specified | Uncertain significance (Dec 19, 2023) | ||
17-44960310-T-C | not specified | Uncertain significance (Jul 25, 2023) | ||
17-44967634-G-T | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
17-44967669-A-C | not specified | Uncertain significance (Aug 13, 2021) | ||
17-44967700-C-A | not specified | Uncertain significance (Jun 17, 2024) | ||
17-44967705-C-T | not specified | Uncertain significance (Apr 25, 2023) | ||
17-44967711-G-A | not specified | Uncertain significance (May 31, 2023) | ||
17-44967723-C-T | not specified | Uncertain significance (Oct 05, 2023) | ||
17-44967733-C-G | not specified | Uncertain significance (Sep 25, 2023) | ||
17-44967793-C-A | not specified | Uncertain significance (Jul 06, 2021) | ||
17-44967823-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
17-44967853-G-C | not specified | Uncertain significance (Mar 20, 2023) | ||
17-44967870-G-C | not specified | Uncertain significance (Sep 20, 2023) | ||
17-44967912-G-A | not specified | Uncertain significance (May 26, 2024) | ||
17-44967925-C-T | not specified | Uncertain significance (Feb 13, 2023) | ||
17-44967996-G-A | not specified | Uncertain significance (Oct 05, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
C1QL1 | protein_coding | protein_coding | ENST00000253407 | 2 | 8379 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000562 | 0.147 | 125697 | 0 | 18 | 125715 | 0.0000716 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.25 | 96 | 137 | 0.699 | 0.00000684 | 1655 |
Missense in Polyphen | 34 | 58.006 | 0.58615 | 626 | ||
Synonymous | 1.34 | 50 | 63.6 | 0.787 | 0.00000368 | 553 |
Loss of Function | -0.719 | 7 | 5.23 | 1.34 | 2.23e-7 | 64 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000377 | 0.000377 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000266 | 0.0000264 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.122
Haploinsufficiency Scores
- pHI
- 0.214
- hipred
- hipred_score
- ghis
- 0.604
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.336
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- C1ql1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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);
Gene ontology
- Biological process
- locomotory behavior;neuron remodeling;motor learning;maintenance of synapse structure
- Cellular component
- cellular_component;collagen trimer;cytoplasm;synaptic cleft;climbing fiber;presynapse
- Molecular function
- molecular_function;signaling receptor binding;protein binding