MROH2A

protein-coding

maestro heat like repeat family member 2A, the group of Maestro heat like repeat containing

Gene summary

This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]

Previous symbols:

HEATR7B1

MANE transcript

NM_001394639.1

Inheritance

—

ClinVar variants

U:1B:8

Top phenotype

Abnormality of neuronal migration

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr2:233,775,679-233,833,423

External References & Databases

Ensembl (ENSG00000185038)

Transcript & Mutation Effects

hg38 • Region Span ~57.7 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 MROH2A variants in ClinVar

3 Conditions Cataloged

not providedTotal: 6

Abnormality of neuronal migrationTotal: 2

MROH2A-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394639.1. 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				5 clinvar		5
missense			1 clinvar	1 clinvar	1 clinvar	3
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	6	2	9

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001394639.1	RefSeq	NP_001381568.1	41	MANE Select
ENST00000389758.4	Ensembl	ENSP00000374408.3	41	MANE Select
NM_001367507.1	RefSeq	NP_001354436.1	41	Standard
ENST00000428446.5	Ensembl	ENSP00000404614.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000389758
Coding exons: 41
Length: 57700
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.10	716	892	0.803	0.0000513	10944
Missense (PolyPhen)		200	264.32	0.75667		3467
Synonymous	2.96	296	368	0.804	0.0000225	3225
Loss of Function	3.42	46	78.8	0.584	0.00000386	989

Population LoF Frequency

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

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): S

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High