MROH2A

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

Basic information

Region (hg38): 2:233775678-233833423

Previous symbols: [ "HEATR7B1" ]

Links

ENSG00000185038 ∙ NCBI:339766 ∙ ∙ HGNC:27936 ∙ Uniprot:A6NES4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MROH2A gene.

• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH2A 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				4		4
missense				1		1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	5	0

Variants in MROH2A

This is a list of pathogenic ClinVar variants found in the MROH2A region.

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

Position	Type	Phenotype	Significance	ClinVar
2-233793782-T-C			Likely benign (Jun 01, 2022)
2-233794419-C-T			Likely benign (Nov 01, 2022)
2-233794467-G-A			Likely benign (Nov 01, 2022)
2-233805011-G-A		Abnormality of neuronal migration	Benign (Oct 31, 2014)
2-233814655-A-AGG		Abnormality of neuronal migration	Benign (Oct 31, 2014)
2-233816781-C-T			Likely benign (Mar 01, 2023)
2-233828701-C-T			Likely benign (Apr 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH2A	protein_coding	protein_coding	ENST00000389758	41	57700

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.93e-21	1.00	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.10	716	892	0.803	0.0000513	10944
Missense in 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

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mroh2a