ENSA

endosulfine alpha

Basic information

Region (hg38): 1:150600850-150629612

Links

ENSG00000143420

∙ NCBI:2029 ∙ OMIM:603061 ∙ HGNC:3360 ∙ Uniprot:O43768 ∙ 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 ENSA gene.

Variants pathogenicity by type

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

Variants in ENSA

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

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

Position	Type	Phenotype	Significance	ClinVar
1-150625645-G-A		not specified	Uncertain significance (Apr 18, 2023)	2512079
1-150627573-C-T		not specified	Uncertain significance (Feb 21, 2024)	3089048

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENSA	protein_coding	protein_coding	ENST00000339643	5	28762

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.349	0.639	125739	0	5	125744	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	40	71.1	0.562	0.00000340	898
Missense in Polyphen		5	20.783	0.24058		308
Synonymous	0.900	23	29.2	0.788	0.00000166	242
Loss of Function	2.12	2	8.75	0.228	3.69e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000879
Middle Eastern	0.000109	0.000109
South Asian	0.0000675	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase (By similarity). Also acts as a stimulator of insulin secretion by interacting with sulfonylurea receptor (ABCC8), thereby preventing sulfonylurea from binding to its receptor and reducing K(ATP) channel currents. {ECO:0000250, ECO:0000269|PubMed:9653196}.;
Pathway: MASTL Facilitates Mitotic Progression;EGFR1;Mitotic Prophase;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Intolerance Scores

loftool: 0.256
rvis_EVS: 0.41
rvis_percentile_EVS: 76.67

Haploinsufficiency Scores

pHI: 0.162
hipred: N
hipred_score: 0.311
ghis: 0.648

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.942

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ensa
Phenotype

Gene ontology

Biological process: G2/M transition of mitotic cell cycle;mitotic cell cycle;response to nutrient;response to glucose;negative regulation of phosphoprotein phosphatase activity;negative regulation of protein dephosphorylation;regulation of insulin secretion;cell division
Cellular component: nucleoplasm;cytoplasm
Molecular function: protein phosphatase inhibitor activity;signaling receptor binding;protein binding;ion channel inhibitor activity;phosphatase inhibitor activity;potassium channel inhibitor activity;protein phosphatase regulator activity;protein phosphatase 2A binding