MROH7

maestro heat like repeat family member 7, the group of Maestro heat like repeat containing

Basic information

Region (hg38): 1:54641754-54710266

Previous symbols: [ "C1orf175", "HEATR8" ]

Links

ENSG00000184313 ∙ NCBI:374977 ∙ ∙ HGNC:24802 ∙ Uniprot:Q68CQ1 ∙ 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 MROH7 gene.

• not_specified (198 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039464.4. 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				5		5
missense			186	13		199
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	186	18	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH7	protein_coding	protein_coding	ENST00000421030	22	68477

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.81e-24	0.116	124491	1	348	124840	0.00140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0813	764	758	1.01	0.0000430	8580
Missense in Polyphen		217	232.86	0.93188		2712
Synonymous	0.378	304	312	0.973	0.0000180	2707
Loss of Function	1.68	44	57.8	0.762	0.00000323	636

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00437	0.00429
Ashkenazi Jewish	0.00132	0.00119
East Asian	0.00102	0.00100
Finnish	0.00125	0.00125
European (Non-Finnish)	0.000448	0.000441
Middle Eastern	0.00102	0.00100
South Asian	0.00528	0.00468
Other	0.00190	0.00181

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.76
• rvis_percentile_EVS: 96.72

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.437

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mroh7

Gene ontology

• Cellular component: extracellular space;integral component of membrane