DTWD2

DTW domain containing 2

Basic information

Region (hg38): 5:118836074-118988547

Links

ENSG00000169570 ∙ NCBI:285605 ∙ ∙ HGNC:19334 ∙ Uniprot:Q8NBA8 ∙ 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 DTWD2 gene.

• not_specified (71 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DTWD2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173666.4. 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						0
missense			70	1		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DTWD2	protein_coding	protein_coding	ENST00000510708	6	151224

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.81e-9	0.0874	125697	0	50	125747	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.37	211	162	1.30	0.00000873	1890
Missense in Polyphen		71	61.201	1.1601		705
Synonymous	-1.30	73	60.2	1.21	0.00000290	588
Loss of Function	-0.0673	13	12.7	1.02	6.23e-7	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000475	0.000458
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000960	0.0000924
European (Non-Finnish)	0.000283	0.000255
Middle Eastern	0.00	0.00
South Asian	0.000147	0.000131
Other	0.000630	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.287
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.172
• hipred: N
• hipred_score: 0.204
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.434

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dtwd2

Zebrafish Information Network

• Gene name: dtwd2
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: bent