MROH9

maestro heat like repeat family member 9, the group of Maestro heat like repeat containing

Basic information

Region (hg38): 1:170935526-171064765

Previous symbols: [ "C1orf129" ]

Links

ENSG00000117501 ∙ NCBI:80133 ∙ ∙ HGNC:26287 ∙ Uniprot:Q5TGP6 ∙ 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 MROH9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MROH9 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				2		2
missense			40	5		45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	7	0

Variants in MROH9

This is a list of pathogenic ClinVar variants found in the MROH9 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-170947542-T-C		not specified	Uncertain significance (Dec 07, 2021)
1-170959482-A-G		not specified	Uncertain significance (Feb 16, 2023)
1-170959501-G-C		not specified	Uncertain significance (Jan 26, 2023)
1-170959525-G-T		not specified	Uncertain significance (Mar 25, 2024)
1-170959532-G-T		not specified	Uncertain significance (Aug 05, 2023)
1-170959563-T-C		not specified	Uncertain significance (Dec 10, 2024)
1-170959589-G-A		not specified	Uncertain significance (Apr 08, 2024)
1-170961903-A-G		not specified	Uncertain significance (Jan 06, 2023)
1-170961949-A-C		not specified	Uncertain significance (Nov 26, 2024)
1-170965151-G-A		not specified	Uncertain significance (Jun 16, 2024)
1-170965160-G-A		not specified	Uncertain significance (Feb 10, 2022)
1-170965170-G-A		not specified	Likely benign (Aug 05, 2024)
1-170965193-G-A		not specified	Uncertain significance (May 02, 2024)
1-170971789-G-C		not specified	Uncertain significance (Dec 15, 2023)
1-170971804-T-G		not specified	Uncertain significance (Aug 14, 2024)
1-170971808-C-T		not specified	Uncertain significance (Jan 18, 2022)
1-170971824-T-A		not specified	Uncertain significance (Apr 09, 2024)
1-170971848-T-C		not specified	Uncertain significance (Jun 16, 2023)
1-170971854-A-G		not specified	Uncertain significance (Nov 18, 2022)
1-170971859-C-T		not specified	Likely benign (Sep 27, 2021)
1-170983487-G-A		not specified	Uncertain significance (Aug 23, 2021)
1-170983487-G-C		not specified	Uncertain significance (Nov 24, 2024)
1-170983511-C-A			Likely benign (Dec 01, 2022)
1-170986582-C-T		not specified	Uncertain significance (Dec 13, 2023)
1-170986648-G-A		not specified	Uncertain significance (Dec 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MROH9	protein_coding	protein_coding	ENST00000367759	21	129295

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.09e-16	0.503	124738	0	56	124794	0.000224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0109	420	421	0.999	0.0000204	5675
Missense in Polyphen		122	120.97	1.0085		1836
Synonymous	-0.398	169	163	1.04	0.00000862	1575
Loss of Function	1.66	30	41.5	0.723	0.00000207	554

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000608	0.000607
Ashkenazi Jewish	0.00	0.00
East Asian	0.000169	0.000167
Finnish	0.000187	0.000186
European (Non-Finnish)	0.000230	0.000230
Middle Eastern	0.000169	0.000167
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.51
• rvis_percentile_EVS: 98.67

Haploinsufficiency Scores

• pHI: 0.0530
• hipred: N
• hipred_score: 0.173

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: Mroh9