MSLNL

mesothelin like

Basic information

Region (hg38): 16:769428-782054

Previous symbols: [ "C16orf37" ]

Links

ENSG00000162006 ∙ NCBI:401827 ∙ ∙ HGNC:14170 ∙ Uniprot:Q96KJ4 ∙ 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 MSLNL gene.

• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MSLNL 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				1		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				6		6
Total	0	0	0	7	0

Variants in MSLNL

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

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

Position	Type	Phenotype	Significance	ClinVar
16-774955-C-T			Likely benign (May 01, 2024)
16-780203-G-A			Likely benign (Jun 01, 2022)
16-780551-A-G			Likely benign (May 01, 2024)
16-780640-T-C			Likely benign (Feb 01, 2023)
16-780671-T-G			Likely benign (May 01, 2024)
16-780743-C-A			Likely benign (Jul 01, 2023)
16-780767-G-A			Likely benign (May 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MSLNL	protein_coding	protein_coding	ENST00000293892	16	13943

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.05e-26	0.000120	124376	18	1084	125478	0.00440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.36	725	629	1.15	0.0000422	6471
Missense in Polyphen		156	146.34	1.066		1765
Synonymous	-2.51	344	290	1.19	0.0000204	2344
Loss of Function	-0.285	38	36.1	1.05	0.00000173	401

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0542	0.0450
Ashkenazi Jewish	0.000953	0.000895
East Asian	0.000682	0.000654
Finnish	0.000562	0.000508
European (Non-Finnish)	0.00189	0.00167
Middle Eastern	0.000682	0.000654
South Asian	0.00280	0.00262
Other	0.00252	0.00229

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0882

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.123

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: cell-matrix adhesion
• Cellular component: cell surface;integral component of membrane