POM121C
Basic information
Region (hg38): 7:75416786-75486299
Links
Phenotypes
GenCC
Source:
- schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown
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 POM121C 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 | 7 | |||||
missense | 108 | 11 | 120 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 108 | 18 | 1 |
Variants in POM121C
This is a list of pathogenic ClinVar variants found in the POM121C region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-75418813-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
7-75418889-C-T | Likely benign (Jun 23, 2018) | |||
7-75419324-C-T | Likely benign (May 01, 2024) | |||
7-75419338-C-T | not specified | Uncertain significance (May 02, 2024) | ||
7-75419374-A-G | not specified | Uncertain significance (May 24, 2023) | ||
7-75419388-G-A | not specified | Uncertain significance (May 23, 2023) | ||
7-75419406-G-A | not specified | Uncertain significance (Sep 17, 2021) | ||
7-75419418-T-A | not specified | Uncertain significance (Sep 04, 2024) | ||
7-75419427-G-T | not specified | Uncertain significance (Oct 18, 2021) | ||
7-75421528-C-G | not specified | Uncertain significance (Jan 12, 2024) | ||
7-75421559-G-A | not specified | Uncertain significance (Feb 07, 2023) | ||
7-75421560-G-C | not specified | Uncertain significance (Oct 19, 2024) | ||
7-75421587-C-T | not specified | Likely benign (Jun 04, 2024) | ||
7-75421599-A-C | not specified | Uncertain significance (Nov 26, 2024) | ||
7-75421608-T-C | not specified | Likely benign (Aug 02, 2021) | ||
7-75421613-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
7-75421613-G-C | not specified | Uncertain significance (Dec 15, 2023) | ||
7-75421629-T-C | not specified | Uncertain significance (Nov 01, 2022) | ||
7-75421665-C-T | not specified | Uncertain significance (Sep 08, 2024) | ||
7-75421676-C-T | not specified | Uncertain significance (Jul 10, 2024) | ||
7-75421755-A-G | not specified | Uncertain significance (Sep 10, 2024) | ||
7-75421812-T-C | not specified | Uncertain significance (Nov 27, 2023) | ||
7-75421824-C-G | not specified | Uncertain significance (Aug 08, 2023) | ||
7-75421854-C-T | not specified | Uncertain significance (Sep 02, 2024) | ||
7-75421866-C-T | not specified | Likely benign (Jan 16, 2024) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL). {ECO:0000269|PubMed:17900573}.;
- Pathway
- RNA transport - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.0840
Haploinsufficiency Scores
- pHI
- 0.0893
- hipred
- hipred_score
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.503
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- mRNA export from nucleus;protein import into nucleus;viral process
- Cellular component
- nuclear envelope;nuclear pore;endoplasmic reticulum membrane;integral component of membrane;nuclear membrane
- Molecular function
- protein binding;nuclear localization sequence binding;structural constituent of nuclear pore