MROH9

Gene

maestro heat like repeat family member 9, the group of Maestro heat like repeat containing

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C1orf129

MANE transcript

NM_001163629.2

Inheritance

—

ClinVar variants

U:72B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr1:170,935,526-171,064,765

External References & Databases

Ensembl (ENSG00000117501)

Transcript & Mutation Effects

hg38 • Region Span ~129.2 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 MROH9 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 79

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001163629.2. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			72 clinvar	10 clinvar		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	12	0	84

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001163629.2	RefSeq	NP_001157101.1	21	MANE Select
ENST00000367759.9	Ensembl	ENSP00000356733.4	21	MANE Select
NM_025063.4	RefSeq	NP_079339.2	14	Standard
ENST00000367758.7	Ensembl	ENSP00000356732.3	14	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367759
Coding exons: 21
Length: 129295
Individuals with no LoFs: 124738
Homozygous LoFs: 0
Heterozygous LoFs: 56
Defined: 124794
p: 0.000224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0109	420	421	0.999	0.0000204	5675
Missense (PolyPhen)		122	120.97	1.0085		1836
Synonymous	-0.398	169	163	1.04	0.00000862	1575
Loss of Function	1.66	30	41.5	0.723	0.00000207	554

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00026	rare
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00017	rare
Finnish	0.00019	0.00019	rare
European (Non-Finnish)	0.00023	0.00023	rare
South Asian	0.00023	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.51
RVIS percentile EVS: 98.67

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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