MORN1

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			2 clinvar	3 clinvar	2 clinvar	7
missense			109 clinvar	10 clinvar		119
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	114	13	2	129

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024848.3	RefSeq	NP_079124.1	14	MANE Select
ENST00000378531.8	Ensembl	ENSP00000367792.3	14	MANE Select
NM_001301060.2	RefSeq	NP_001287989.1	11	Standard
ENST00000378525.2	Ensembl	ENSP00000367786.2	6	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378531
Coding exons: 14
Length: 70455
Individuals with no LoFs: 125677
Homozygous LoFs: 0
Heterozygous LoFs: 69
Defined: 125746
p: 0.000274

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.285	308	294	1.05	0.0000190	3143
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00021	0.00018	rare
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00044	0.00044	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00031	0.00029	rare
South Asian	0.00052	0.00049	rare
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0871

Intolerance Scores

LoFtool: 0.788
RVIS EVS: -0.08
RVIS percentile EVS: 47.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.866

Gene Damage Prediction

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