OTULINL

protein-coding

OTU deubiquitinase with linear linkage specificity like, the group of OTU domain containing

Gene summary

Located in cytoplasmic side of endoplasmic reticulum membrane and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FAM105A

MANE transcript

NM_019018.3

Inheritance

—

ClinVar variants

U:64B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr5:14,581,792-14,616,180

External References & Databases

Ensembl (ENSG00000145569)

Transcript & Mutation Effects

hg38 • Region Span ~34.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OTULINL variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 63

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019018.3. Only rare variants are included.

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						0
missense			63 clinvar	1 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	64	1	0	65

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019018.3	RefSeq	NP_061891.1	8	MANE Select
ENST00000274217.4	Ensembl	ENSP00000274217.3	8	MANE Select
ENST00000853045.1	Ensembl	ENSP00000523104.1	8	Standard
ENST00000853045.2	Ensembl	ENSP00000523104.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in lymphocytes - TarBase

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274217
Coding exons: 8
Length: 33233
Individuals with no LoFs: 125634
Homozygous LoFs: 0
Heterozygous LoFs: 114
Defined: 125748
p: 0.000453

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.562	156	177	0.881	0.00000882	2334
Missense (PolyPhen)		51	71.871	0.7096		958
Synonymous	-0.420	69	64.7	1.07	0.00000323	645
Loss of Function	0.774	15	18.6	0.806	8.46e-7	249

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00050	0.00050	rare
South Asian	0.00095	0.00091	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0983

Intolerance Scores

RVIS EVS: 0.11
RVIS percentile EVS: 61.73

Essentials

Essential (gene trap): N