POM121C

POM121 transmembrane nucleoporin C

Basic information

Region (hg38): 7:75416786-75486299

Links

ENSG00000272391NCBI:100101267OMIM:615754HGNC:34005Uniprot:A8CG34AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POM121C gene.

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
clinvar
7
missense
108
clinvar
11
clinvar
1
clinvar
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)2228203
7-75418889-C-T Likely benign (Jun 23, 2018)779917
7-75419324-C-T Likely benign (May 01, 2024)3239035
7-75419338-C-T not specified Uncertain significance (May 02, 2024)2267101
7-75419374-A-G not specified Uncertain significance (May 24, 2023)2511191
7-75419388-G-A not specified Uncertain significance (May 23, 2023)2516634
7-75419406-G-A not specified Uncertain significance (Sep 17, 2021)2382583
7-75419418-T-A not specified Uncertain significance (Sep 04, 2024)2218193
7-75419427-G-T not specified Uncertain significance (Oct 18, 2021)2255783
7-75421528-C-G not specified Uncertain significance (Jan 12, 2024)3216685
7-75421559-G-A not specified Uncertain significance (Feb 07, 2023)2482297
7-75421560-G-C not specified Uncertain significance (Oct 19, 2024)3422953
7-75421587-C-T not specified Likely benign (Jun 04, 2024)3308876
7-75421599-A-C not specified Uncertain significance (Nov 26, 2024)3422954
7-75421608-T-C not specified Likely benign (Aug 02, 2021)2212045
7-75421613-G-A not specified Uncertain significance (Dec 08, 2023)3216684
7-75421613-G-C not specified Uncertain significance (Dec 15, 2023)3216683
7-75421629-T-C not specified Uncertain significance (Nov 01, 2022)2402637
7-75421665-C-T not specified Uncertain significance (Sep 08, 2024)3422940
7-75421676-C-T not specified Uncertain significance (Jul 10, 2024)3422945
7-75421755-A-G not specified Uncertain significance (Sep 10, 2024)3422950
7-75421812-T-C not specified Uncertain significance (Nov 27, 2023)3216682
7-75421824-C-G not specified Uncertain significance (Aug 08, 2023)2617507
7-75421854-C-T not specified Uncertain significance (Sep 02, 2024)2230329
7-75421866-C-T not specified Likely benign (Jan 16, 2024)3216680

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

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