DSEL

dermatan sulfate epimerase like

Basic information

Region (hg38): 18:67506587-67516720

Previous symbols: [ "C18orf4" ]

Links

ENSG00000171451 ∙ NCBI:92126 ∙ OMIM:611125 ∙ HGNC:18144 ∙ Uniprot:Q8IZU8 ∙ 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 DSEL gene.

• not_specified (132 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSEL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032160.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			124	8	1	133
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	125	9	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DSEL	protein_coding	protein_coding	ENST00000310045	1	10399

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000729	1.00	125639	0	108	125747	0.000430

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	558	633	0.881	0.0000307	8103
Missense in Polyphen		184	245.81	0.74855		3140
Synonymous	-0.0864	231	229	1.01	0.0000113	2298
Loss of Function	3.86	17	44.9	0.379	0.00000253	541

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00113	0.00112
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.000218	0.000217
Finnish	0.00148	0.00148
European (Non-Finnish)	0.000282	0.000281
Middle Eastern	0.000218	0.000217
South Asian	0.000294	0.000294
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of carbohydrates;Dermatan sulfate biosynthesis;Chondroitin sulfate/dermatan sulfate metabolism;Glycosaminoglycan metabolism;Metabolism (Consensus)

Intolerance Scores

• loftool: 0.732
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.28

Haploinsufficiency Scores

• pHI: 0.238
• hipred: N
• hipred_score: 0.466
• ghis: 0.497

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.146

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dsel
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: chondroitin sulfate metabolic process;dermatan sulfate biosynthetic process
• Cellular component: Golgi membrane;integral component of membrane
• Molecular function: sulfotransferase activity;chondroitin-glucuronate 5-epimerase activity