STIMATE-MUSTN1

STIMATE-MUSTN1 readthrough

Basic information

Region (hg38): 3:52833121-52897562

Previous symbols: [ "TMEM110-MUSTN1" ]

Links

ENSG00000248592 ∙ NCBI:100526772 ∙ ∙ HGNC:38834 ∙ ∙ ∙ 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 STIMATE-MUSTN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STIMATE-MUSTN1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in STIMATE-MUSTN1

This is a list of pathogenic ClinVar variants found in the STIMATE-MUSTN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-52833397-C-G		not specified	Uncertain significance (Mar 20, 2024)
3-52833728-T-C		not specified	Uncertain significance (Oct 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STIMATE-MUSTN1	protein_coding	protein_coding	ENST00000504329	10	64442

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000669	0.995	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	173	226	0.765	0.0000139	2395
Missense in Polyphen		40	58.548	0.6832		544
Synonymous	1.41	77	94.4	0.816	0.00000646	727
Loss of Function	2.53	9	21.7	0.415	0.00000120	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000687	0.000647
Ashkenazi Jewish	0.00	0.00
East Asian	0.000221	0.000217
Finnish	0.000371	0.000370
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000221	0.000217
South Asian	0.0000364	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.380

Essentials

• essential_gene_CRISPR: 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

Gene ontology

• Biological process: chondrocyte differentiation;activation of store-operated calcium channel activity;calcium-mediated signaling using intracellular calcium source;chondrocyte proliferation;tissue regeneration
• Cellular component: nucleus;membrane;integral component of membrane;cortical endoplasmic reticulum
• Molecular function: calcium channel regulator activity