DTWD1

DTW domain containing 1

Basic information

Region (hg38): 15:49621036-49656232

Links

ENSG00000104047 ∙ NCBI:56986 ∙ ∙ HGNC:30926 ∙ Uniprot:Q8N5C7 ∙ 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 DTWD1 gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DTWD1 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in DTWD1

This is a list of pathogenic ClinVar variants found in the DTWD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-49625286-G-A		not specified	Uncertain significance (Dec 13, 2023)
15-49625349-G-A		not specified	Uncertain significance (Oct 03, 2022)
15-49625351-G-A		not specified	Uncertain significance (Oct 12, 2022)
15-49625421-C-T		not specified	Uncertain significance (Mar 06, 2023)
15-49632205-G-A		not specified	Uncertain significance (Jan 22, 2024)
15-49634623-G-A		not specified	Uncertain significance (Jun 07, 2023)
15-49634740-A-G		not specified	Uncertain significance (Mar 29, 2023)
15-49643364-C-T		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DTWD1	protein_coding	protein_coding	ENST00000251250	4	24157

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.81e-10	0.0442	125664	0	66	125730	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0499	152	150	1.01	0.00000688	2011
Missense in Polyphen		68	63.283	1.0745		826
Synonymous	-0.864	58	50.2	1.16	0.00000236	532
Loss of Function	-0.306	14	12.8	1.09	7.14e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000889	0.000870
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000321	0.000317
Middle Eastern	0.000167	0.000163
South Asian	0.000188	0.000163
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.940
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63

Haploinsufficiency Scores

• pHI: 0.0864
• hipred: N
• hipred_score: 0.256
• ghis: 0.451

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.575

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dtwd1