DOP1B

DOP1 leucine zipper like protein B

Basic information

Region (hg38): 21:36156782-36294274

Previous symbols: [ "C21orf5", "DOPEY2" ]

Links

ENSG00000142197 ∙ NCBI:9980 ∙ OMIM:604803 ∙ HGNC:1291 ∙ Uniprot:Q9Y3R5 ∙ 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 DOP1B gene.

• not_specified (348 variants)
• not_provided (28 variants)
• Keratoconus (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOP1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001320714.2. 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			1	9	4	14
missense			332	20	7	359
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	334	29	11

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOP1B	protein_coding	protein_coding	ENST00000399151	36	137493

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.55e-21	1.00	125514	0	234	125748	0.000931

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.780	1220	1.30e+3	0.939	0.0000774	14949
Missense in Polyphen		388	439.25	0.88331		5239
Synonymous	-1.17	610	574	1.06	0.0000396	4646
Loss of Function	4.72	51	103	0.497	0.00000503	1228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00160	0.00159
Ashkenazi Jewish	0.00367	0.00368
East Asian	0.000336	0.000326
Finnish	0.000463	0.000462
European (Non-Finnish)	0.00106	0.00105
Middle Eastern	0.000336	0.000326
South Asian	0.000393	0.000392
Other	0.00130	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in protein traffic between late Golgi and early endosomes. {ECO:0000250|UniProtKB:Q03921}.

Recessive Scores

• pRec: 0.101

Intolerance Scores

• rvis_EVS: -3.65
• rvis_percentile_EVS: 0.28

Haploinsufficiency Scores

• pHI: 0.298
• hipred: N
• hipred_score: 0.478
• ghis: 0.521

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Dop1b
• Phenotype: skeleton phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: Golgi to endosome transport;endoplasmic reticulum organization;multicellular organism development;protein transport;cognition
• Cellular component: Golgi membrane;endosome;trans-Golgi network;cytosol;extracellular exosome
• Molecular function: molecular_function