UMODL1-AS1

UMODL1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 21:42102134-42108534

Previous symbols: [ "C21orf128" ]

Links

ENSG00000184385 ∙ NCBI:150147 ∙ ∙ HGNC:23821 ∙ Uniprot:Q8N2C9 ∙ 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 UMODL1-AS1 gene.

• Inborn genetic diseases (7 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UMODL1-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7		1	8
Total	0	0	7	0	1

Variants in UMODL1-AS1

This is a list of pathogenic ClinVar variants found in the UMODL1-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-42102184-T-C		not specified	Uncertain significance (Mar 28, 2024)
21-42102211-T-A		not specified	Uncertain significance (Jun 25, 2024)
21-42102231-C-T		not specified	Uncertain significance (Aug 15, 2023)
21-42102240-G-T		not specified	Uncertain significance (Apr 12, 2022)
21-42102249-C-G		not specified	Uncertain significance (Jul 11, 2023)
21-42102254-C-G		not specified	Uncertain significance (Mar 29, 2023)
21-42102275-C-A		not specified	Uncertain significance (Jun 29, 2022)
21-42103932-T-C		not specified	Uncertain significance (Dec 20, 2021)
21-42103933-C-T			Benign (Apr 17, 2018)
21-42103991-G-A		not specified	Uncertain significance (May 09, 2022)
21-42104015-C-G		not specified	Uncertain significance (Dec 05, 2024)
21-42104067-G-A		not specified	Likely benign (Oct 17, 2024)
21-42104067-G-T		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UMODL1-AS1	protein_coding	protein_coding	ENST00000329015	2	6401

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00222	0.327	125716	0	17	125733	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.136	99	95.3	1.04	0.00000591	1026
Missense in Polyphen		12	10.692	1.1224		94
Synonymous	-0.296	41	38.7	1.06	0.00000262	336
Loss of Function	-1.21	3	1.43	2.10	6.14e-8	14

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000797	0.000797
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0754
• hipred: N
• hipred_score: 0.123
• ghis: 0.399

Essentials

• essential_gene_gene_trap: N