SEZ6L

seizure related 6 homolog like, the group of Sushi domain containing

Basic information

Region (hg38): 22:26169461-26383597

Links

ENSG00000100095NCBI:23544OMIM:607021HGNC:10763Uniprot:Q9BYH1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SEZ6L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEZ6L 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
3
clinvar
4
clinvar
7
missense
59
clinvar
3
clinvar
2
clinvar
64
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
3
clinvar
1
clinvar
4
Total 0 0 62 7 6

Variants in SEZ6L

This is a list of pathogenic ClinVar variants found in the SEZ6L region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
22-26169677-C-T not specified Uncertain significance (Dec 27, 2023)3160763
22-26169685-C-A not specified Uncertain significance (Oct 22, 2021)2256731
22-26169713-C-G not specified Uncertain significance (Sep 13, 2023)2623549
22-26292417-G-A not specified Uncertain significance (Nov 17, 2023)3160737
22-26292517-C-T not specified Uncertain significance (Mar 29, 2022)2280396
22-26292518-G-A Likely benign (Jun 18, 2018)747823
22-26292573-A-G not specified Uncertain significance (Apr 13, 2023)2536703
22-26292580-C-T not specified Uncertain significance (May 25, 2022)3160750
22-26292593-C-G not specified Uncertain significance (Jul 19, 2022)2302180
22-26292594-G-A not specified Uncertain significance (Jan 02, 2024)3160753
22-26292604-C-G not specified Uncertain significance (May 30, 2024)3317791
22-26292616-T-C not specified Uncertain significance (Dec 06, 2021)3160755
22-26292634-G-A not specified Uncertain significance (Apr 12, 2024)3317788
22-26292655-C-G not specified Uncertain significance (Feb 13, 2023)2470842
22-26292684-G-A not specified Uncertain significance (Jan 26, 2022)2342345
22-26292811-C-T not specified Uncertain significance (Mar 25, 2024)3317790
22-26292840-G-A not specified Uncertain significance (Sep 14, 2023)2590253
22-26292845-G-T not specified Uncertain significance (Nov 17, 2023)3160756
22-26292846-G-A not specified Uncertain significance (May 08, 2024)3317799
22-26292892-C-G not specified Uncertain significance (Mar 14, 2024)3160757
22-26292898-C-G not specified Uncertain significance (Feb 27, 2024)3160758
22-26292903-G-A not specified Uncertain significance (Dec 16, 2023)3160760
22-26292978-G-A not specified Uncertain significance (Apr 06, 2024)3317794
22-26292984-G-T not specified Uncertain significance (Mar 01, 2023)2491828
22-26293005-G-T not specified Uncertain significance (May 26, 2022)2359060

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SEZ6Lprotein_codingprotein_codingENST00000248933 17214123
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5070.4931257300171257470.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.474955960.8310.00003496598
Missense in Polyphen148249.250.593792771
Synonymous-0.09012732711.010.00001882105
Loss of Function4.901045.70.2190.00000230526

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005790.0000579
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00009260.0000924
European (Non-Finnish)0.0001160.000114
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May contribute to specialized endoplasmic reticulum functions in neurons. {ECO:0000250}.;

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
0.331
rvis_EVS
-2.03
rvis_percentile_EVS
1.69

Haploinsufficiency Scores

pHI
0.301
hipred
N
hipred_score
0.489
ghis
0.617

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.295

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Sez6l
Phenotype
homeostasis/metabolism phenotype; 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
adult locomotory behavior;cerebellar Purkinje cell layer development;synapse maturation;regulation of protein kinase C signaling
Cellular component
endoplasmic reticulum membrane;integral component of membrane;neuronal cell body
Molecular function