DOP1B

DOP1 leucine zipper like protein B

Basic information

Region (hg38): 21:36156781-36294274

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.

• Inborn genetic diseases (50 variants)
• not provided (26 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.

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				9	4	13
missense			52	3	7	62
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	52	12	11

Variants in DOP1B

This is a list of pathogenic ClinVar variants found in the DOP1B region.

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

Position	Type	Phenotype	Significance	ClinVar
21-36164743-G-A		not specified	Uncertain significance (May 03, 2023)
21-36164799-A-C		not specified	Uncertain significance (Jan 23, 2023)
21-36164825-C-T		not specified	Uncertain significance (Aug 23, 2021)
21-36199230-C-T		not specified	Uncertain significance (Jul 19, 2023)
21-36200347-C-T		not specified	Uncertain significance (Aug 16, 2022)
21-36200360-C-T		not specified	Uncertain significance (Sep 16, 2021)
21-36200369-C-T		not specified	Uncertain significance (Apr 06, 2022)
21-36200371-G-T		not specified	Uncertain significance (Oct 27, 2021)
21-36200380-G-C		not specified	Uncertain significance (Aug 30, 2021)
21-36208717-C-T		not specified	Uncertain significance (Jan 24, 2023)
21-36208725-C-G		not specified	Uncertain significance (Mar 07, 2024)
21-36208773-G-A		not specified	Uncertain significance (May 09, 2023)
21-36208786-G-A			Benign (Apr 02, 2018)
21-36208788-G-A		not specified	Uncertain significance (Sep 29, 2022)
21-36208807-T-C		not specified	Uncertain significance (Dec 15, 2023)
21-36208830-G-A		not specified	Uncertain significance (Apr 25, 2023)
21-36208859-C-T			Likely benign (Mar 01, 2023)
21-36208866-G-A		not specified	Uncertain significance (Mar 23, 2022)
21-36208880-G-A		not specified	Uncertain significance (Aug 13, 2021)
21-36211566-G-A		not specified	Uncertain significance (Sep 27, 2022)
21-36211634-C-G		not specified	Uncertain significance (Feb 21, 2024)
21-36211981-A-G		not specified	Uncertain significance (Sep 27, 2021)
21-36212008-C-A			Benign (Apr 07, 2018)
21-36212016-G-A		not specified	Uncertain significance (Nov 21, 2022)
21-36212034-G-A		not specified	Uncertain significance (Dec 27, 2023)

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