OBI1-AS1

OBI1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:77919689-78617334

Previous symbols: [ "POU4F1-AS1", "RNF219-AS1" ]

Links

ENSG00000234377 ∙ NCBI:100874222 ∙ ∙ HGNC:42700 ∙ ∙ ∙ 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 OBI1-AS1 gene.

• not provided (28 variants)
• Inborn genetic diseases (19 variants)
• Hirschsprung disease, susceptibility to, 2 (11 variants)
• Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (5 variants)
• Cerebellar dysfunction with variable cognitive and behavioral abnormalities (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OBI1-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)			1			1
splice region						0
non coding	5	1	35	16	2	59
Total	5	1	36	16	2

Variants in OBI1-AS1

This is a list of pathogenic ClinVar variants found in the OBI1-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
13-77919725-AG-A			Likely benign (Aug 23, 2018)
13-77919839-C-G			Likely benign (Apr 10, 2019)
13-77975347-C-T		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 15, 2018)
13-77975359-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77975416-C-A		Hirschsprung disease, susceptibility to, 2	Benign (Jan 13, 2018)
13-77975448-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77975455-C-T		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Apr 28, 2017)
13-77975456-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77975474-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77975500-C-T		Hirschsprung disease, susceptibility to, 2	Likely benign (Jan 13, 2018)
13-77975501-G-A		Hirschsprung disease, susceptibility to, 2	Likely benign (Jan 13, 2018)
13-77975520-A-T		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77975523-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-78596609-G-A			Likely benign (Jan 01, 2023)
13-78601441-G-A		Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	Uncertain significance (Oct 09, 2024)
13-78601484-G-C		not specified	Uncertain significance (Jun 01, 2023)
13-78601491-T-C		not specified	Uncertain significance (Apr 19, 2024)
13-78601553-G-A			Likely benign (Oct 01, 2024)
13-78601570-A-G		Inborn genetic diseases	Uncertain significance (Jan 24, 2019)
13-78601636-G-A		not specified	Uncertain significance (Nov 14, 2023)
13-78601637-C-T			Likely benign (Feb 01, 2023)
13-78601644-AT-A		Inborn genetic diseases	Uncertain significance (Jan 24, 2019)
13-78601654-G-T		not specified	Uncertain significance (May 05, 2023)
13-78601733-C-T		POU4F1-related disorder	Likely benign (Sep 21, 2024)
13-78601742-C-G		not specified	Uncertain significance (Nov 09, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP