MORN1

MORN repeat containing 1

Basic information

Region (hg38): 1:2321253-2391707

Links

ENSG00000116151 ∙ NCBI:79906 ∙ ∙ HGNC:25852 ∙ Uniprot:Q5T089 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 15.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_024848.3	NP_079124.1	14	yes	-
ENST00000378531.8	ENSP00000367792.3	14	yes	-
NM_001301060.2	NP_001287989.1	11	-	-
ENST00000378529.7	ENSP00000367790.3	11	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MORN1 gene.

• not_specified (119 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MORN1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_024848.3. 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			2	2	2	6
missense			109	10		119
nonsense			1			1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	114	12	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MORN1	protein_coding	protein_coding	ENST00000378531	14	70455

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125677	0	69	125746	0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.285	308	294	1.05	0.0000190	3143
Missense in Polyphen		94	90.045	1.0439		928
Synonymous	-0.0355	129	128	1.00	0.00000972	995
Loss of Function	1.10	20	26.0	0.768	0.00000124	300

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000399
Ashkenazi Jewish	0.00	0.00
East Asian	0.000442	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000306	0.000290
Middle Eastern	0.000442	0.000435
South Asian	0.000519	0.000490
Other	0.000349	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0871

Intolerance Scores

• loftool: 0.788
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.15

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.866

Gene Damage Prediction

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