Menu
GeneBe

SERF2

small EDRK-rich factor 2

Basic information

Region (hg38): 15:43777086-43804427

Links

ENSG00000140264NCBI:10169OMIM:605054HGNC:10757Uniprot:P84101AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERF2 gene.

  • Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERF2 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
5
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 5 0 0

Variants in SERF2

This is a list of pathogenic ClinVar variants found in the SERF2 region.

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

Position Type Phenotype Significance ClinVar
15-43793647-C-G not specified Uncertain significance (Mar 13, 2023)2495524
15-43793767-C-T not specified Uncertain significance (May 04, 2022)2287300
15-43793809-C-T not specified Uncertain significance (Nov 21, 2023)3160223
15-43793815-T-C not specified Uncertain significance (Dec 27, 2023)3160224
15-43793821-G-C not specified Uncertain significance (Oct 06, 2021)2407808
15-43793823-G-A not specified Uncertain significance (Oct 06, 2022)2341654
15-43793946-C-A not specified Uncertain significance (Dec 28, 2022)2339296
15-43800605-C-T not specified Uncertain significance (Nov 17, 2022)2326536
15-43800606-G-A not specified Uncertain significance (Nov 10, 2022)2325245
15-43800612-G-A not specified Uncertain significance (Sep 22, 2023)3107762
15-43800634-G-C not specified Uncertain significance (Apr 26, 2023)2541089
15-43800635-G-A not specified Uncertain significance (Jun 02, 2023)2555960
15-43800641-G-A not specified Uncertain significance (Oct 13, 2023)3107763
15-43800658-G-A Benign (May 16, 2018)714533
15-43800666-C-T not specified Uncertain significance (Dec 15, 2022)3107765
15-43801560-G-A Benign (May 16, 2018)714534
15-43801711-A-G not specified Uncertain significance (Aug 16, 2022)2369662
15-43801716-T-C Benign (May 16, 2018)730909

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERF2protein_codingprotein_codingENST00000409960 325503
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02320.7831257250221257470.0000875
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.227951010.9370.000005361078
Missense in Polyphen37.2780.412272
Synonymous0.9193441.50.8190.00000246376
Loss of Function0.94735.370.5592.40e-763

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002430.000242
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002650.0000264
Middle Eastern0.000.00
South Asian0.0004250.000425
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.113

Haploinsufficiency Scores

pHI
0.242
hipred
N
hipred_score
0.146
ghis
0.504

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.764

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Serf2
Phenotype

Gene ontology

Biological process
biological_process
Cellular component
nucleus;cytosol
Molecular function
molecular_function