LSM7
Basic information
Region (hg38): 19:2321520-2328611
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 LSM7 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 | 3 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 0 | 0 |
Variants in LSM7
This is a list of pathogenic ClinVar variants found in the LSM7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-2321786-C-G | In utero death | Pathogenic (-) | ||
| 19-2321786-C-T | not specified | Uncertain significance (Dec 28, 2022) | ||
| 19-2321820-G-A | not specified | Uncertain significance (Jul 12, 2023) | ||
| 19-2324127-C-T | not specified | Uncertain significance (Apr 26, 2023) | ||
| 19-2324173-C-T | Leukodystrophy | Pathogenic (-) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| LSM7 | protein_coding | protein_coding | ENST00000252622 | 4 | 7104 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.462 | 0.515 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.43 | 24 | 53.5 | 0.449 | 0.00000282 | 658 |
| Missense in Polyphen | 6 | 19.029 | 0.31532 | 250 | ||
| Synonymous | -0.710 | 27 | 22.7 | 1.19 | 0.00000151 | 180 |
| Loss of Function | 1.82 | 1 | 5.67 | 0.176 | 3.22e-7 | 68 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320). {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:28781166}.;
- Pathway
- RNA degradation - Homo sapiens (human);Spliceosome - Homo sapiens (human);mRNA Processing;Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA decay by 5, to 3, exoribonuclease;Deadenylation-dependent mRNA decay;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- -0.03
- rvis_percentile_EVS
- 51.04
Haploinsufficiency Scores
- pHI
- 0.581
- hipred
- Y
- hipred_score
- 0.746
- ghis
- 0.664
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.973
Mouse Genome Informatics
- Gene name
- Lsm7
- Phenotype
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
- Cellular component
- nucleus;nucleoplasm;U6 snRNP;U12-type spliceosomal complex;cytosol;U4/U6 x U5 tri-snRNP complex;U2-type prespliceosome;U2-type precatalytic spliceosome;catalytic step 2 spliceosome;Lsm2-8 complex;Lsm1-7-Pat1 complex
- Molecular function
- protein binding;U6 snRNA binding