SERHL2

serine hydrolase like 2

Basic information

Region (hg38): 22:42553617-42574382

Links

ENSG00000183569 ∙ NCBI:253190 ∙ OMIM:619045 ∙ HGNC:29446 ∙ Uniprot:Q9H4I8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERHL2 gene.

• not_specified (48 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERHL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014509.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			43	6		49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERHL2	protein_coding	protein_coding	ENST00000327678	12	20766

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.83e-15	0.000704	123012	73	2663	125748	0.0109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.02	176	115	1.53	0.00000604	2035
Missense in Polyphen		34	31.023	1.0959		621
Synonymous	-1.44	61	48.2	1.26	0.00000303	569
Loss of Function	-2.04	18	10.8	1.67	4.55e-7	212

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.117	0.117
Ashkenazi Jewish	0.0116	0.0115
East Asian	0.000544	0.000544
Finnish	0.00218	0.00213
European (Non-Finnish)	0.00440	0.00439
Middle Eastern	0.000544	0.000544
South Asian	0.00334	0.00321
Other	0.00572	0.00572

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable serine hydrolase. May be related to cell muscle hypertrophy.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Serhl

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;peroxisome;cytoplasmic vesicle;perinuclear region of cytoplasm
• Molecular function: molecular_function;hydrolase activity