DYTN

dystrotelin, the group of Zinc fingers ZZ-type

Basic information

Region (hg38): 2:206651621-206721570

Links

ENSG00000232125 ∙ NCBI:391475 ∙ OMIM:618510 ∙ HGNC:23279 ∙ Uniprot:A2CJ06 ∙ 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 DYTN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYTN 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				2		2
missense			24	3		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	5	0

Variants in DYTN

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

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

Position	Type	Phenotype	Significance	ClinVar
2-206651828-T-C		not specified	Uncertain significance (Apr 07, 2022)
2-206651838-C-A		not specified	Uncertain significance (Jan 31, 2024)
2-206651856-C-T		not specified	Uncertain significance (May 12, 2024)
2-206651918-G-A		not specified	Uncertain significance (Jun 13, 2024)
2-206662942-A-G		not specified	Uncertain significance (Aug 27, 2024)
2-206663037-C-G		not specified	Uncertain significance (Jan 24, 2024)
2-206663091-C-T		not specified	Uncertain significance (Apr 09, 2024)
2-206663128-G-T			Uncertain significance (Feb 08, 2023)
2-206663245-G-A		not specified	Uncertain significance (May 31, 2023)
2-206663253-T-TCC			not provided (-)
2-206663259-G-C		not specified	Likely benign (Oct 05, 2023)
2-206663323-T-C		not specified	Likely benign (Apr 13, 2022)
2-206663383-G-A		not specified	Uncertain significance (Oct 05, 2023)
2-206665880-C-T		not specified	Likely benign (Dec 02, 2024)
2-206666027-A-G		not specified	Uncertain significance (Jun 04, 2024)
2-206693183-C-T		not specified	Likely benign (May 14, 2024)
2-206693184-G-A		not specified	Uncertain significance (Jul 09, 2024)
2-206693244-T-G		not specified	Uncertain significance (Feb 22, 2023)
2-206693253-C-T		not specified	Uncertain significance (Sep 20, 2023)
2-206693295-A-G		not specified	Uncertain significance (Dec 06, 2021)
2-206694782-A-G		not specified	Uncertain significance (Aug 05, 2024)
2-206694789-G-C		not specified	Uncertain significance (Mar 29, 2022)
2-206694806-G-C		not specified	Uncertain significance (Dec 03, 2024)
2-206694842-C-A		not specified	Uncertain significance (Dec 18, 2023)
2-206694876-A-G		not specified	Uncertain significance (Apr 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DYTN	protein_coding	protein_coding	ENST00000452335	12	66776

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.72e-19	0.00634	124339	1	300	124640	0.00121

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.394	327	308	1.06	0.0000159	3753
Missense in Polyphen		70	73.829	0.94813		1035
Synonymous	-0.615	121	113	1.07	0.00000566	1116
Loss of Function	0.274	29	30.6	0.947	0.00000161	348

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0142	0.0142
Ashkenazi Jewish	0.00	0.00
East Asian	0.00156	0.00156
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000268	0.000265
Middle Eastern	0.00156	0.00156
South Asian	0.000402	0.000392
Other	0.000830	0.000826

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.682
• rvis_EVS: 2.65
• rvis_percentile_EVS: 98.83

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.144

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dytn

Gene ontology

• Cellular component: plasma membrane
• Molecular function: zinc ion binding