MOB3C

MOB kinase activator 3C, the group of MOB kinase activators

Basic information

Region (hg38): 1:46607719-46616811

Previous symbols: [ "MOBKL2C" ]

Links

ENSG00000142961 ∙ NCBI:148932 ∙ ∙ HGNC:29800 ∙ Uniprot:Q70IA8 ∙ 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 MOB3C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOB3C 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	26	0	0

Variants in MOB3C

This is a list of pathogenic ClinVar variants found in the MOB3C region.

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

Position	Type	Phenotype	Significance	ClinVar
1-46609665-A-T		not specified	Uncertain significance (Jul 12, 2023)
1-46609668-C-T		not specified	Uncertain significance (Jan 03, 2024)
1-46610018-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-46610019-G-A		not specified	Uncertain significance (Sep 26, 2023)
1-46610045-A-C		not specified	Uncertain significance (Sep 21, 2023)
1-46610097-T-C		not specified	Uncertain significance (Jun 29, 2022)
1-46610100-T-G		not specified	Uncertain significance (Apr 08, 2024)
1-46610102-A-T		not specified	Uncertain significance (Mar 19, 2024)
1-46610144-C-T		not specified	Uncertain significance (May 29, 2024)
1-46610154-G-A		not specified	Uncertain significance (Jan 19, 2024)
1-46610164-C-A		not specified	Uncertain significance (Sep 01, 2021)
1-46612928-C-T		not specified	Uncertain significance (Aug 14, 2023)
1-46612946-C-T		not specified	Uncertain significance (May 27, 2022)
1-46612954-T-C		not specified	Uncertain significance (Dec 15, 2023)
1-46612955-C-G		not specified	Uncertain significance (Jul 06, 2022)
1-46612956-C-A		not specified	Uncertain significance (Dec 15, 2023)
1-46612975-C-T		not specified	Uncertain significance (Sep 25, 2023)
1-46613033-C-G		not specified	Uncertain significance (Jan 24, 2023)
1-46613078-A-G		not specified	Uncertain significance (May 12, 2024)
1-46613102-T-C		not specified	Uncertain significance (Dec 22, 2023)
1-46613115-G-C		not specified	Uncertain significance (Feb 11, 2022)
1-46613135-G-A		not specified	Uncertain significance (Feb 07, 2023)
1-46613210-G-A		not specified	Uncertain significance (Mar 05, 2024)
1-46613243-G-A		not specified	Uncertain significance (Dec 03, 2021)
1-46613244-C-G		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOB3C	protein_coding	protein_coding	ENST00000271139	4	9177

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000178	0.700	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.638	169	194	0.871	0.0000138	1754
Missense in Polyphen		54	51.152	1.0557		465
Synonymous	1.87	58	79.1	0.733	0.00000592	520
Loss of Function	1.02	9	12.9	0.695	6.93e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.000217	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000176	0.000167
Middle Eastern	0.000217	0.000217
South Asian	0.000752	0.000752
Other	0.000339	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate the activity of kinases. {ECO:0000250}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.57

Haploinsufficiency Scores

• pHI: 0.299
• hipred: N
• hipred_score: 0.390
• ghis: 0.422

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mob3c

Gene ontology

• Molecular function: protein binding;metal ion binding