MROH8

protein-coding

maestro heat like repeat family member 8, the group of Maestro heat like repeat containing

Gene summary

The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Previous symbols:

C20orf131
C20orf132

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:1B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr20:37,101,226-37,179,588

External References & Databases

Ensembl (ENSG00000101353)

Transcript & Mutation Effects

hg38 • Region Span ~78.4 kb

Loading mutation effect viewer...

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 MROH8 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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				1 clinvar		1
missense			1 clinvar	1 clinvar		2
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)				6 clinvar		6
Total	0	0	1	8	1	10

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152503.8	RefSeq	NP_689716.4	24	Standard
NM_213631.3	RefSeq	NP_998796.1	14	Standard
NM_213632.3	RefSeq	NP_998797.2	13	Standard
ENST00000343811.10	Ensembl	ENSP00000513568.1	24	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000343811
Coding exons: 23
Length: 78363
Individuals with no LoFs: 124224
Homozygous LoFs: 2
Heterozygous LoFs: 415
Defined: 124641
p: 0.00167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.731	479	526	0.910	0.0000264	6897
Missense (PolyPhen)		127	155.78	0.81525		2163
Synonymous	0.311	201	207	0.972	0.0000104	2084
Loss of Function	2.43	33	51.9	0.636	0.00000259	653

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00039	0.00039	rare
Latino/Admixed American	0.00078	0.00075	rare
Ashkenazi Jewish	0.0035	0.0035	notable
East Asian	0.00017	0.00017	rare
Finnish	0.0036	0.0036	notable
European (Non-Finnish)	0.0012	0.0011	notable
South Asian	0.0045	0.0040	notable
Other	0.0037	0.0035	notable

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): S