SERHL2

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			56 clinvar	6 clinvar		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar	1 clinvar		7
Total	0	0	64	7	0	71

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 44 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014509.5	RefSeq	NP_055324.2	12	MANE Select
ENST00000327678.10	Ensembl	ENSP00000331376.5	12	MANE Select
NM_001284334.2	RefSeq	NP_001271263.1	10	Standard
ENST00000335879.5	Ensembl	ENSP00000336578.5	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function
hydrolase activity

Cellular Component

cellular_component
peroxisome
cytoplasmic vesicle
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327678
Coding exons: 12
Length: 20766
Individuals with no LoFs: 123012
Homozygous LoFs: 73
Heterozygous LoFs: 2663
Defined: 125748
p: 0.0109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.02	176	115	1.53	0.00000604	2035
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.11	0.11	notable
Latino/Admixed American	0.0071	0.0070	notable
Ashkenazi Jewish	0.012	0.011	notable
East Asian	0.00054	0.00054	rare
Finnish	0.0022	0.0021	notable
European (Non-Finnish)	0.0044	0.0044	notable
South Asian	0.0033	0.0032	notable
Other	0.0057	0.0057	notable

dbNSFP Gene Annotations

Source: dbNSFP

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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