MORN5

MORN repeat containing 5

Basic information

Region (hg38): 9:122159908-122200088

Previous symbols: [ "C9orf113", "C9orf18" ]

Links

ENSG00000185681 ∙ NCBI:254956 ∙ OMIM:619837 ∙ HGNC:17841 ∙ Uniprot:Q5VZ52 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• isolated cleft palate (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MORN5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MORN5 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						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	8	0	1

Variants in MORN5

This is a list of pathogenic ClinVar variants found in the MORN5 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122159971-C-T			Benign (Jan 01, 2023)
9-122159977-A-G		not specified	Uncertain significance (Apr 25, 2022)
9-122166802-G-A		not specified	Uncertain significance (Jun 17, 2024)
9-122166871-G-C		not specified	Uncertain significance (Oct 25, 2022)
9-122169704-C-G		not specified	Uncertain significance (May 23, 2024)
9-122169750-C-A		not specified	Uncertain significance (Oct 24, 2023)
9-122169753-G-C		not specified	Uncertain significance (May 24, 2024)
9-122174514-A-G		not specified	Uncertain significance (Dec 01, 2022)
9-122174522-C-T		not specified	Uncertain significance (Mar 16, 2024)
9-122174552-G-A		not specified	Uncertain significance (Jan 12, 2024)
9-122174583-C-A		not specified	Uncertain significance (Jun 01, 2023)
9-122174613-T-C		not specified	Uncertain significance (Dec 09, 2023)
9-122174624-G-A		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MORN5	protein_coding	protein_coding	ENST00000373764	5	40178

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000817	0.548	125732	0	14	125746	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.408	92	104	0.887	0.00000608	1067
Missense in Polyphen		32	37.01	0.86462		369
Synonymous	0.304	37	39.4	0.939	0.00000284	269
Loss of Function	0.579	7	8.86	0.790	3.72e-7	115

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000795	0.0000791
Middle Eastern	0.000109	0.000109
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.611
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.0848
• hipred: N
• hipred_score: 0.219
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.335

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Morn5