MROH1

maestro heat like repeat family member 1, the group of Maestro heat like repeat containing

Basic information

Region (hg38): 8:144148016-144261927

Previous symbols: [ "HEATR7A" ]

Links

ENSG00000179832 ∙ NCBI:727957 ∙ ∙ HGNC:26958 ∙ Uniprot:Q8NDA8 ∙ 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 MROH1 gene.

• not_specified (65 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032450.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			55	10		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	11	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH1	protein_coding	protein_coding	ENST00000528919	42	113925

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.203	0.797	124632	0	37	124669	0.000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.598	252	280	0.899	0.0000180	10516
Missense in Polyphen		35	50.899	0.68764		1519
Synonymous	-0.860	144	131	1.10	0.00000940	3504
Loss of Function	3.45	6	24.3	0.246	0.00000128	909

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000442	0.000442
Ashkenazi Jewish	0.00	0.00
East Asian	0.00145	0.000723
Finnish	0.00	0.00
European (Non-Finnish)	0.0000457	0.0000442
Middle Eastern	0.00145	0.000723
South Asian	0.000167	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.570
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mroh1