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GeneBe

OBSCN-AS1

OBSCN antisense RNA 1, the group of Antisense RNAs

Basic information

Previous symbols: [ "C1orf145" ]

Links

ENSG00000162913NCBI:574407HGNC:32047Uniprot:Q96MR7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
clinvar
3
splice region
0
non coding
1
clinvar
84
clinvar
69
clinvar
3
clinvar
157
Total 1 0 86 70 3

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OBSCN-AS1protein_codingprotein_codingENST00000295012 210159
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02940.606106431051064360.0000235
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.5517865.51.190.00000314703
Missense in Polyphen1516.1780.9272140
Synonymous1.022127.80.7550.00000136227
Loss of Function0.17122.280.8779.69e-828

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0001310.000127
Finnish0.000.00
European (Non-Finnish)0.00003260.0000317
Middle Eastern0.0001310.000127
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
0.135
hipred
N
hipred_score
0.180
ghis
0.477