DOP1A

DOP1 leucine zipper like protein A

Basic information

Region (hg38): 6:83067665-83171350

Previous symbols: [ "KIAA1117", "DOPEY1" ]

Links

ENSG00000083097 ∙ NCBI:23033 ∙ OMIM:616823 ∙ HGNC:21194 ∙ Uniprot:Q5JWR5 ∙ 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 DOP1A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOP1A 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			81	1		82
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				2	2	4
Total	0	0	81	3	2

Variants in DOP1A

This is a list of pathogenic ClinVar variants found in the DOP1A region.

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

Position	Type	Phenotype	Significance	ClinVar
6-83109047-C-G		not specified	Uncertain significance (Oct 20, 2023)
6-83109074-A-C		not specified	Uncertain significance (Aug 22, 2023)
6-83110193-G-A		not specified	Uncertain significance (Jul 12, 2023)
6-83110208-G-T		not specified	Uncertain significance (Sep 22, 2023)
6-83118895-G-A		not specified	Uncertain significance (Apr 07, 2022)
6-83119829-C-T		not specified	Uncertain significance (Aug 17, 2021)
6-83120688-G-T		not specified	Uncertain significance (May 11, 2022)
6-83122010-A-G		not specified	Uncertain significance (May 10, 2023)
6-83124760-G-A		not specified	Uncertain significance (Jan 23, 2024)
6-83124790-G-A		not specified	Uncertain significance (Jun 28, 2023)
6-83124805-G-A		not specified	Uncertain significance (Jun 06, 2023)
6-83125549-G-A		not specified	Uncertain significance (Jun 17, 2024)
6-83125589-C-G		not specified	Uncertain significance (May 04, 2022)
6-83125593-T-C		not specified	Uncertain significance (Nov 01, 2022)
6-83125663-C-G		not specified	Uncertain significance (Feb 06, 2023)
6-83128938-A-G		not specified	Uncertain significance (Apr 05, 2023)
6-83129059-T-C		not specified	Uncertain significance (Feb 23, 2023)
6-83129083-A-C		not specified	Uncertain significance (Dec 01, 2022)
6-83129133-G-A			Likely benign (May 01, 2022)
6-83129152-C-T		not specified	Uncertain significance (Dec 01, 2022)
6-83129323-C-T		not specified	Uncertain significance (Aug 17, 2022)
6-83129434-A-C		not specified	Uncertain significance (Dec 16, 2023)
6-83130197-G-A		not specified	Uncertain significance (Apr 20, 2024)
6-83130202-G-C		not specified	Uncertain significance (Mar 02, 2023)
6-83130270-A-T		not specified	Uncertain significance (May 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOP1A	protein_coding	protein_coding	ENST00000349129	37	103685

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000659	125694	0	54	125748	0.000215

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.32	919	1.25e+3	0.736	0.0000611	16222
Missense in Polyphen		244	419.53	0.5816		5572
Synonymous	2.15	383	440	0.870	0.0000213	4708
Loss of Function	8.37	21	120	0.175	0.00000660	1453

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000468	0.000459
Ashkenazi Jewish	0.000108	0.0000992
East Asian	0.000279	0.000272
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000241	0.000237
Middle Eastern	0.000279	0.000272
South Asian	0.000196	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0943

Intolerance Scores

• rvis_EVS: -1.05
• rvis_percentile_EVS: 7.62

Haploinsufficiency Scores

• pHI: 0.329
• hipred: Y
• hipred_score: 0.685
• ghis: 0.564

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Dop1a

Gene ontology

• Biological process: Golgi to endosome transport;protein transport
• Cellular component: Golgi membrane;endosome;trans-Golgi network;cytosol