CLNS1A
Basic information
Region (hg38): 11:77514935-77637794
Previous symbols: [ "CLCI" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (7 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLNS1A 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 | 7 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 7 | 0 | 0 |
Variants in CLNS1A
This is a list of pathogenic ClinVar variants found in the CLNS1A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-77590014-C-G | not specified | Uncertain significance (Oct 27, 2022) | ||
11-77590015-G-C | not specified | Uncertain significance (Nov 09, 2021) | ||
11-77590055-G-T | not specified | Uncertain significance (May 09, 2023) | ||
11-77590113-A-G | not specified | Uncertain significance (Dec 20, 2021) | ||
11-77590254-G-T | not specified | Uncertain significance (Mar 31, 2023) | ||
11-77590291-C-T | not specified | Uncertain significance (Sep 27, 2022) | ||
11-77590377-C-A | not specified | Uncertain significance (Nov 27, 2023) | ||
11-77590426-A-C | Likely benign (Jan 01, 2023) | |||
11-77590427-G-T | Likely benign (Jan 01, 2023) | |||
11-77590448-C-A | not specified | Uncertain significance (May 24, 2023) | ||
11-77590464-C-G | not specified | Uncertain significance (May 10, 2023) | ||
11-77590464-C-T | Uncertain significance (Nov 26, 2018) | |||
11-77590506-G-A | not specified | Likely benign (Feb 05, 2024) | ||
11-77590530-G-A | not specified | Uncertain significance (Aug 10, 2023) | ||
11-77590548-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
11-77590596-T-C | not specified | Uncertain significance (Jan 04, 2024) | ||
11-77590605-T-C | not specified | Uncertain significance (Nov 05, 2021) | ||
11-77609341-G-T | Uncertain significance (Nov 26, 2018) | |||
11-77619695-T-C | not specified | Uncertain significance (Mar 11, 2024) | ||
11-77622539-C-A | not specified | Uncertain significance (Apr 26, 2023) | ||
11-77622619-T-A | not specified | Uncertain significance (Aug 09, 2021) | ||
11-77622654-G-C | not specified | Uncertain significance (Jul 25, 2023) | ||
11-77624980-T-C | not specified | Uncertain significance (Nov 19, 2022) | ||
11-77625044-C-G | not specified | Uncertain significance (Feb 22, 2023) | ||
11-77629855-T-C | not specified | Uncertain significance (Oct 12, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CLNS1A | protein_coding | protein_coding | ENST00000525428 | 6 | 122870 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0814 | 0.909 | 125711 | 0 | 35 | 125746 | 0.000139 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.882 | 96 | 124 | 0.777 | 0.00000573 | 1547 |
Missense in Polyphen | 14 | 25.601 | 0.54685 | 346 | ||
Synonymous | 0.717 | 40 | 46.2 | 0.866 | 0.00000220 | 436 |
Loss of Function | 2.27 | 4 | 12.7 | 0.314 | 6.23e-7 | 164 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000302 | 0.000300 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000221 | 0.000217 |
Finnish | 0.000205 | 0.000185 |
European (Non-Finnish) | 0.000170 | 0.000167 |
Middle Eastern | 0.000221 | 0.000217 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins (PubMed:21081503, PubMed:18984161). Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also indirectly participate in cellular volume control by activation of a swelling-induced chloride conductance pathway. {ECO:0000269|PubMed:10330151, ECO:0000269|PubMed:11713266, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:21081503}.;
- Pathway
- RNA transport - Homo sapiens (human);snRNP Assembly;Metabolism of RNA;Metabolism of non-coding RNA
(Consensus)
Recessive Scores
- pRec
- 0.203
Intolerance Scores
- loftool
- 0.609
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 36.86
Haploinsufficiency Scores
- pHI
- 0.106
- hipred
- Y
- hipred_score
- 0.687
- ghis
- 0.657
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.925
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Clns1a
- Phenotype
- cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Zebrafish Information Network
- Gene name
- clns1a
- Affected structure
- motor neuron
- Phenotype tag
- abnormal
- Phenotype quality
- branchiness
Gene ontology
- Biological process
- spliceosomal snRNP assembly;chloride transport;cell volume homeostasis
- Cellular component
- nucleus;nucleoplasm;cytosol;cytoskeleton;plasma membrane;methylosome;pICln-Sm protein complex
- Molecular function
- RNA binding;protein binding;protein heterodimerization activity