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

ENSG00000234377NCBI:100874222HGNC:42700GenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
splice region
0
non coding
5
clinvar
1
clinvar
35
clinvar
16
clinvar
2
clinvar
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)1223528
13-77919839-C-G Likely benign (Apr 10, 2019)1210669
13-77975347-C-T Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 15, 2018)884204
13-77975359-G-A Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 13, 2018)884205
13-77975416-C-A Hirschsprung disease, susceptibility to, 2 Benign (Jan 13, 2018)884206
13-77975448-G-A Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 12, 2018)884207
13-77975455-C-T Hirschsprung disease, susceptibility to, 2 Uncertain significance (Apr 28, 2017)880913
13-77975456-G-A Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 13, 2018)880914
13-77975474-G-A Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 13, 2018)880915
13-77975500-C-T Hirschsprung disease, susceptibility to, 2 Likely benign (Jan 13, 2018)880916
13-77975501-G-A Hirschsprung disease, susceptibility to, 2 Likely benign (Jan 13, 2018)880917
13-77975520-A-T Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 13, 2018)880918
13-77975523-G-A Hirschsprung disease, susceptibility to, 2 Uncertain significance (Jan 13, 2018)880919
13-78596609-G-A Likely benign (Jan 01, 2023)2643863
13-78601441-G-A Ataxia, intention tremor, and hypotonia syndrome, childhood-onset Uncertain significance (Oct 09, 2024)3066101
13-78601484-G-C not specified Uncertain significance (Jun 01, 2023)2232505
13-78601491-T-C not specified Uncertain significance (Apr 19, 2024)3309038
13-78601553-G-A Likely benign (Oct 01, 2024)1675526
13-78601570-A-G Inborn genetic diseases Uncertain significance (Jan 24, 2019)985578
13-78601636-G-A not specified Uncertain significance (Nov 14, 2023)3216942
13-78601637-C-T Likely benign (Feb 01, 2023)2643864
13-78601644-AT-A Inborn genetic diseases Uncertain significance (Jan 24, 2019)985006
13-78601654-G-T not specified Uncertain significance (May 05, 2023)2544222
13-78601733-C-T POU4F1-related disorder Likely benign (Sep 21, 2024)3355536
13-78601742-C-G not specified Uncertain significance (Nov 09, 2024)3423248

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP