MPHOSPH8

M-phase phosphoprotein 8, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 13:19633659-19673441

Links

ENSG00000196199 ∙ NCBI:54737 ∙ OMIM:611626 ∙ HGNC:29810 ∙ Uniprot:Q99549 ∙ 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 MPHOSPH8 gene.

• not_specified (75 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPHOSPH8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017520.4. 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				1		1
missense			67	8		75
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPHOSPH8	protein_coding	protein_coding	ENST00000361479	14	39812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00147	0.999	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.08	377	441	0.855	0.0000228	5693
Missense in Polyphen		113	163.13	0.6927		2078
Synonymous	-0.843	190	176	1.08	0.0000107	1553
Loss of Function	3.81	12	37.0	0.324	0.00000191	520

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000528	0.000524
Ashkenazi Jewish	0.00	0.00
East Asian	0.000382	0.000381
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000201	0.000193
Middle Eastern	0.000382	0.000381
South Asian	0.000268	0.000261
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Heterochromatin component that specifically recognizes and binds methylated 'Lys-9' of histone H3 (H3K9me) and promotes recruitment of proteins that mediate epigenetic repression (PubMed:20871592, PubMed:26022416). Mediates recruitment of the HUSH complex to H3K9me3 sites: the HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3 (PubMed:26022416). Binds H3K9me and promotes DNA methylation by recruiting DNMT3A to target CpG sites; these can be situated within the coding region of the gene (PubMed:20871592). Mediates down-regulation of CDH1 expression (PubMed:20871592). {ECO:0000269|PubMed:20871592, ECO:0000269|PubMed:26022416}.

Recessive Scores

• pRec: 0.0917

Intolerance Scores

• loftool: 0.738
• rvis_EVS: -0.24
• rvis_percentile_EVS: 36.23

Haploinsufficiency Scores

• pHI: 0.104
• hipred: Y
• hipred_score: 0.736
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.690

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mphosph8

Gene ontology

• Biological process: regulation of DNA methylation;negative regulation of transcription, DNA-templated
• Cellular component: nuclear nucleosome;nucleus;nuclear heterochromatin;nucleolus;cytoplasm;cytosol;plasma membrane
• Molecular function: protein binding;methylated histone binding