MSLNL

pseudo

mesothelin like

Gene summary

Predicted to be involved in cell-matrix adhesion. Predicted to be located in membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • C16orf37

MANE transcript

N/A

Inheritance

—

ClinVar variants

B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.05

Max pathogenic AF

—

Genomic locus

chr16:769,428-782,054

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~12.6 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 MSLNL variants in ClinVar

1 Conditions Cataloged
not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000101
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
ENST00000543963.5EnsemblENSP00000441381.115Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • cell-matrix adhesion

Cellular Component

  • cell surface
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000293892
Coding exons
16
Length
13943
Individuals with no LoFs
124376
Homozygous LoFs
18
Heterozygous LoFs
1084
Defined
125478
p
0.00440
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-1.367256291.150.00004226471
Missense (PolyPhen)156146.341.0661765
Synonymous-2.513442901.190.00002042344
Loss of Function-0.2853836.11.050.00000173401

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0500.041notable
Latino/Admixed American0.00420.0040notable
Ashkenazi Jewish0.000950.00090rare
East Asian0.000680.00065rare
Finnish0.000560.00051rare
European (Non-Finnish)0.00190.0017notable
South Asian0.00280.0026notable
Other0.00250.0023notable

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May play a role in cellular adhesion. {ECO:0000250}.;

Recessive Scores

pRec
0.0882

Essentials

Essential (CRISPR2)
N
Indispensability pred.
N
Indispensability score
0.123

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh
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