DRICH1

aspartate rich 1

Basic information

Region (hg38): 22:23608452-23632321

Previous symbols: [ "C22orf43" ]

Links

ENSG00000189269 ∙ NCBI:51233 ∙ ∙ HGNC:28031 ∙ Uniprot:Q6PGQ1 ∙ 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 DRICH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRICH1 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	15	0	0

Variants in DRICH1

This is a list of pathogenic ClinVar variants found in the DRICH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-23613650-C-T		not specified	Uncertain significance (Jun 08, 2022)
22-23613656-G-A		not specified	Uncertain significance (Aug 10, 2024)
22-23614135-G-A			Likely benign (Aug 01, 2024)
22-23614167-C-A		not specified	Uncertain significance (Sep 11, 2024)
22-23616864-G-A		not specified	Uncertain significance (Jul 14, 2024)
22-23617618-C-T		not specified	Uncertain significance (Oct 07, 2024)
22-23620603-G-A		not specified	Uncertain significance (Dec 15, 2023)
22-23620606-A-G		not specified	Uncertain significance (Dec 21, 2023)
22-23622101-T-G		not specified	Uncertain significance (Aug 09, 2021)
22-23624891-G-C		not specified	Uncertain significance (Apr 17, 2024)
22-23626021-T-G		not specified	Uncertain significance (Oct 05, 2021)
22-23626028-T-A		not specified	Uncertain significance (May 08, 2023)
22-23626033-C-T		not specified	Uncertain significance (Sep 25, 2023)
22-23626037-C-G		not specified	Uncertain significance (Sep 04, 2024)
22-23631839-A-T		not specified	Uncertain significance (Jul 14, 2021)
22-23631843-G-C		not specified	Uncertain significance (Jan 30, 2024)
22-23631857-C-T		not specified	Uncertain significance (Dec 26, 2023)
22-23631863-G-A		not specified	Uncertain significance (Jan 29, 2024)
22-23631864-T-C		not specified	Uncertain significance (Nov 09, 2021)
22-23631909-A-C		not specified	Uncertain significance (Jun 06, 2023)
22-23632001-C-T		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRICH1	protein_coding	protein_coding	ENST00000317749	12	23870

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.93e-19	0.000311	124719	0	85	124804	0.000341

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0629	128	126	1.02	0.00000646	1508
Missense in Polyphen		41	38.768	1.0576		480
Synonymous	0.432	44	47.8	0.921	0.00000255	395
Loss of Function	-1.21	25	19.3	1.30	0.00000111	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00256	0.00256
Ashkenazi Jewish	0.00	0.00
East Asian	0.000168	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000241	0.000229
Middle Eastern	0.000168	0.000167
South Asian	0.000132	0.000131
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.28
• rvis_percentile_EVS: 93.71

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Molecular function: protein binding