MROH8

maestro heat like repeat family member 8, the group of Maestro heat like repeat containing

Basic information

Region (hg38): 20:37101225-37179588

Previous symbols: [ "C20orf131", "C20orf132" ]

Links

ENSG00000101353 ∙ NCBI:140699 ∙ ∙ HGNC:16125 ∙ Uniprot:Q9H579 ∙ 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 MROH8 gene.

• Congenital disorder of glycosylation (8 variants)
• not provided (3 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH8 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						0
missense			1	1		2
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)				6		6
splice region						0
non coding					3	3
Total	0	0	1	7	4

Variants in MROH8

This is a list of pathogenic ClinVar variants found in the MROH8 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-37178722-C-A			Benign (Sep 05, 2018)
20-37178751-A-T			Benign (Sep 05, 2018)
20-37178834-C-T			Benign (Sep 05, 2018)
20-37179358-T-TGGCGCCGCCGGGTGAGGAGTTGCGCGTGG		not specified	Benign (Mar 29, 2016)
20-37179368-G-C		Congenital disorder of glycosylation	Uncertain significance (Dec 31, 2022)
20-37179380-G-T		Congenital disorder of glycosylation	Likely benign (Dec 30, 2021)
20-37179381-C-G		Congenital disorder of glycosylation	Likely benign (Aug 02, 2023)
20-37179387-G-GCTTATAGACGGGGCCCCGCGGCCGGCACT		Congenital disorder of glycosylation	Likely benign (Jan 22, 2024)
20-37179387-G-GCTTATAGACAGGGCCCGCGGCCGGCACT		Congenital disorder of glycosylation	Likely benign (Oct 20, 2022)
20-37179387-G-GCTTATAGACAGGGCCCGGCGGCCGGCACT		Congenital disorder of glycosylation	Likely benign (Apr 26, 2023)
20-37179387-G-GCTTACAGACAGGGCCCCGCGGCCGACACT		Congenital disorder of glycosylation	Likely benign (Nov 14, 2023)
20-37179387-G-GCTTATAGACAGGGCCCCGCGGCCGGCACT		Congenital disorder of glycosylation	Likely benign (Jan 31, 2024)
20-37179387-G-GCTTACAGACAGGGCCCCGCGGCCGGCACT		Congenital disorder of glycosylation	Likely benign (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH8	protein_coding	protein_coding	ENST00000343811	23	78363

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.32e-16	0.963	124224	2	415	124641	0.00167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.731	479	526	0.910	0.0000264	6897
Missense in Polyphen		127	155.78	0.81525		2163
Synonymous	0.311	201	207	0.972	0.0000104	2084
Loss of Function	2.43	33	51.9	0.636	0.00000259	653

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00117	0.00117
Ashkenazi Jewish	0.00350	0.00348
East Asian	0.000173	0.000167
Finnish	0.00364	0.00363
European (Non-Finnish)	0.00115	0.00112
Middle Eastern	0.000173	0.000167
South Asian	0.00450	0.00396
Other	0.00373	0.00347

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0743
• ghis: 0.412

Essentials

• essential_gene_CRISPR2: S

Mouse Genome Informatics

• Gene name: Mroh8