MROH6

maestro heat like repeat family member 6, the group of Maestro heat like repeat containing

Basic information

Region (hg38): 8:143566192-143572772

Previous symbols: [ "C8orf73" ]

Links

ENSG00000204839 ∙ NCBI:642475 ∙ ∙ HGNC:27814 ∙ Uniprot:A6NGR9 ∙ 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 MROH6 gene.

• not_specified (189 variants)
• Autosomal_recessive_non-syndromic_intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001100878.2. 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			2	1		3
missense			177	13		190
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7			7
Total	0	0	187	14	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH6	protein_coding	protein_coding	ENST00000398882	14	6785

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.15e-18	0.00550	123756	15	827	124598	0.00338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.661	402	366	1.10	0.0000212	4332
Missense in Polyphen		134	115.95	1.1557		1452
Synonymous	-1.56	199	173	1.15	0.0000102	1665
Loss of Function	0.0889	27	27.5	0.982	0.00000143	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0477	0.0459
Ashkenazi Jewish	0.000129	0.0000994
East Asian	0.00145	0.00145
Finnish	0.0000473	0.0000464
European (Non-Finnish)	0.000367	0.000354
Middle Eastern	0.00145	0.00145
South Asian	0.000366	0.000360
Other	0.00249	0.00248

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0965
• hipred: N
• hipred_score: 0.144
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• 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: Mroh6