MAK16

MAK16 homolog, the group of RNA binding motif containing

Basic information

Region (hg38): 8:33485181-33501262

Previous symbols: [ "RBM13" ]

Links

ENSG00000198042 ∙ NCBI:84549 ∙ ∙ HGNC:13703 ∙ Uniprot:Q9BXY0 ∙ 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 MAK16 gene.

• Inborn genetic diseases (8 variants)
• not provided (7 variants)
• not specified (3 variants)
• Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAK16 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5	2		7
Total	0	0	10	4	0

Variants in MAK16

This is a list of pathogenic ClinVar variants found in the MAK16 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-33485215-G-C			Likely benign (Apr 16, 2018)
8-33488618-A-C		not specified	Uncertain significance (Jul 09, 2021)
8-33488781-C-G		not specified	Uncertain significance (Jul 12, 2023)
8-33490319-C-T		not specified	Uncertain significance (Aug 30, 2022)
8-33496729-T-C			Likely benign (Mar 01, 2023)
8-33497293-T-C		not specified	Uncertain significance (Jan 31, 2022)
8-33498469-A-G		not specified	Uncertain significance (Jan 30, 2024)
8-33498484-C-T		not specified	Uncertain significance (Feb 02, 2024)
8-33498591-C-A		not specified	Uncertain significance (Feb 12, 2024)
8-33498615-G-A		not specified	Uncertain significance (Dec 03, 2021)
8-33499194-G-A		not specified	Likely benign (Apr 01, 2023)
8-33499225-T-C		Inborn genetic diseases	Likely benign (Nov 02, 2023)
8-33499261-A-C		Inborn genetic diseases	Uncertain significance (Mar 04, 2024)
8-33499274-G-C		Inborn genetic diseases	Uncertain significance (Nov 09, 2023)
8-33499277-C-T		Inborn genetic diseases	Uncertain significance (Jun 29, 2023)
8-33500336-G-A		Microcephaly	Uncertain significance (-)
8-33500351-G-A			Uncertain significance (Apr 27, 2023)
8-33500353-T-G		not specified	Uncertain significance (May 04, 2022)
8-33500393-C-T		Inborn genetic diseases	Uncertain significance (Jul 12, 2022)
8-33500399-T-TA		Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Conflicting classifications of pathogenicity (Jun 22, 2022)
8-33500443-A-T		Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	Pathogenic (Nov 01, 2013)
8-33500453-A-C		Inborn genetic diseases	Uncertain significance (Feb 23, 2023)
8-33500476-A-C		not specified	Conflicting classifications of pathogenicity (Dec 31, 2019)
8-33500499-A-G			Likely benign (Apr 02, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAK16	protein_coding	protein_coding	ENST00000360128	10	16511

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.965	0.0355	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.578	148	169	0.875	0.00000942	1991
Missense in Polyphen		33	55.242	0.59737		669
Synonymous	0.107	59	60.1	0.982	0.00000325	508
Loss of Function	3.93	3	23.6	0.127	0.00000150	247

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0966

Intolerance Scores

• loftool: 0.121
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.37

Haploinsufficiency Scores

• pHI: 0.163
• hipred: Y
• hipred_score: 0.783
• ghis: 0.631

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.425

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mak16

Zebrafish Information Network

• Gene name: mak16
• Affected structure: radial glial cell
• Phenotype tag: abnormal
• Phenotype quality: disorganized

Gene ontology

• Cellular component: nucleolus;preribosome, large subunit precursor;intracellular membrane-bounded organelle
• Molecular function: RNA binding