DPRX

divergent-paired related homeobox, the group of PRD class homeoboxes and pseudogenes

Basic information

Region (hg38): 19:53600777-53637014

Links

ENSG00000204595 ∙ NCBI:503834 ∙ OMIM:611165 ∙ HGNC:32166 ∙ Uniprot:A6NFQ7 ∙ 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 DPRX gene.

• not_specified (29 variants)
• Short_stature (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DPRX gene is commonly pathogenic or not. These statistics are base on transcript: NM_001012728.2. 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			27	2		29
nonsense	1					1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	27	2	0

Highest pathogenic variant AF is 0.00035870227

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DPRX	protein_coding	protein_coding	ENST00000376650	3	4954

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000241	0.0913	125734	0	8	125742	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	81	111	0.732	0.00000590	1253
Missense in Polyphen		13	17.783	0.73105		240
Synonymous	1.75	28	42.5	0.658	0.00000245	370
Loss of Function	-1.25	7	4.22	1.66	2.79e-7	42

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	0.00	0.00
European (Non-Finnish)	0.00000897	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.000133	0.000131
Other	0.000509	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative transcription factor. {ECO:0000250}.
• Pathway: Preimplantation Embryo (Consensus)

Intolerance Scores

• loftool: 0.555
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.0338
• hipred: N
• hipred_score: 0.146
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;sequence-specific DNA binding