OBSCN-AS1

OBSCN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:228203503-228213664

Previous symbols: [ "C1orf145" ]

Links

ENSG00000162913 ∙ NCBI:574407 ∙ ∙ HGNC:32047 ∙ Uniprot:Q96MR7 ∙ 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 OBSCN-AS1 gene.

• Inborn genetic diseases (153 variants)
• not provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OBSCN-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)			2	1		3
splice region						0
non coding	1		84	69	3	157
Total	1	0	86	70	3

Variants in OBSCN-AS1

This is a list of pathogenic ClinVar variants found in the OBSCN-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
1-228211781-C-G			Benign (Dec 12, 2018)
1-228211804-C-A		not specified	Uncertain significance (Oct 02, 2023)
1-228211817-T-G		not specified	Uncertain significance (Dec 06, 2022)
1-228211818-T-A		OBSCN-related disorder	Conflicting classifications of pathogenicity (Dec 01, 2022)
1-228211824-C-A		not specified	Uncertain significance (Nov 08, 2023)
1-228211824-C-T		not specified	Uncertain significance (Apr 12, 2024)
1-228211826-C-G		not specified	Uncertain significance (Jul 14, 2022)
1-228211826-C-T		not specified	Uncertain significance (Sep 12, 2022)
1-228211849-G-C		not specified	Likely benign (Nov 27, 2022)
1-228211850-G-A		not specified	Likely benign (Apr 07, 2022)
1-228211867-C-G		not specified	Likely benign (May 22, 2023)
1-228211870-C-T		not specified	Likely benign (Jan 03, 2024)
1-228211886-G-C		not specified	Uncertain significance (Aug 11, 2022)
1-228211892-C-G		not specified	Uncertain significance (Mar 30, 2024)
1-228211897-G-A		not specified	Likely benign (Jan 22, 2023)
1-228211913-G-A		not specified	Uncertain significance (Apr 18, 2023)
1-228211918-G-C		not specified	Likely benign (Nov 10, 2022)
1-228211927-G-A		not specified • OBSCN-related disorder	Benign/Likely benign (Feb 11, 2022)
1-228211930-G-T		not specified	Likely benign (Jun 10, 2021)
1-228211935-C-T		not specified	Uncertain significance (Nov 17, 2023)
1-228211936-G-A		not specified	Likely benign (Nov 27, 2020)
1-228211940-G-T		not specified	Uncertain significance (Oct 05, 2023)
1-228211942-C-T		not specified	Likely benign (Dec 10, 2023)
1-228211953-G-T		not specified	Uncertain significance (Dec 22, 2023)
1-228211968-G-A		not specified	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OBSCN-AS1	protein_coding	protein_coding	ENST00000295012	2	10159

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0294	0.606	106431	0	5	106436	0.0000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.551	78	65.5	1.19	0.00000314	703
Missense in Polyphen		15	16.178	0.9272		140
Synonymous	1.02	21	27.8	0.755	0.00000136	227
Loss of Function	0.171	2	2.28	0.877	9.69e-8	28

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000131	0.000127
Finnish	0.00	0.00
European (Non-Finnish)	0.0000326	0.0000317
Middle Eastern	0.000131	0.000127
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.180
• ghis: 0.477