DEXI

Dexi homolog

Basic information

Region (hg38): 16:10928890-10942468

Links

ENSG00000182108 ∙ NCBI:28955 ∙ OMIM:617901 ∙ HGNC:13267 ∙ Uniprot:O95424 ∙ 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 DEXI gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEXI 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in DEXI

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

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

Position	Type	Phenotype	Significance	ClinVar
16-10941744-C-G		not specified	Uncertain significance (Mar 29, 2022)
16-10941780-G-A		not specified	Uncertain significance (Jan 31, 2022)
16-10941789-G-A		not specified	Uncertain significance (Sep 28, 2022)
16-10941798-G-T		not specified	Uncertain significance (Feb 01, 2023)
16-10941906-A-G		not specified	Uncertain significance (Jan 25, 2023)
16-10941936-G-C		not specified	Uncertain significance (Oct 26, 2022)
16-10941963-G-A		not specified	Uncertain significance (May 05, 2023)
16-10941969-G-C		not specified	Uncertain significance (Jul 11, 2023)
16-10941973-G-T		not specified	Uncertain significance (Dec 05, 2022)
16-10941978-G-C		not specified	Uncertain significance (Feb 03, 2022)
16-10941980-T-G		not specified	Uncertain significance (Jul 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEXI	protein_coding	protein_coding	ENST00000331808	1	13570

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.414	0.475	125149	0	2	125151	0.00000799

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.106	56	53.8	1.04	0.00000244	600
Missense in Polyphen		17	16.215	1.0484		173
Synonymous	-1.95	43	29.5	1.46	0.00000139	218
Loss of Function	1.01	0	1.19	0.00	5.08e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000102	0.00000886
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.443
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.468
• ghis: 0.583

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dexi