HNF1A-AS1

HNF1A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:120941723-120980968

Previous symbols: [ "C12orf27", "NCRNA00262" ]

Links

ENSG00000241388 ∙ NCBI:283460 ∙ ∙ HGNC:26785 ∙ ∙ ∙ 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 HNF1A-AS1 gene.

• Monogenic diabetes (101 variants)
• not provided (78 variants)
• Maturity onset diabetes mellitus in young (67 variants)
• not specified (34 variants)
• Maturity-onset diabetes of the young type 3 (30 variants)
• 6 conditions (12 variants)
• Nonpapillary renal cell carcinoma (8 variants)
• Type II diabetes mellitus (3 variants)
• Type 1 diabetes mellitus 20 (2 variants)
• Diabetes mellitus (1 variants)
• Clear cell carcinoma of kidney (1 variants)
• Chromophobe renal cell carcinoma (1 variants)
• Ovarian cancer (1 variants)
• SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF (1 variants)
• Insulin resistance, susceptibility to (1 variants)
• HNF1A-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNF1A-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	27	31	77	30	12	177
Total	27	31	77	30	12

Highest pathogenic variant AF is 0.00000733

Variants in HNF1A-AS1

This is a list of pathogenic ClinVar variants found in the HNF1A-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
12-120978202-G-A		not specified	Uncertain significance (Nov 22, 2017)
12-120978242-C-T		not specified • Maturity onset diabetes mellitus in young	Benign/Likely benign (Feb 26, 2019)
12-120978302-C-T		Maturity onset diabetes mellitus in young • HNF1A-related disorder	Conflicting classifications of pathogenicity (Oct 30, 2017)
12-120978369-C-T		Maturity onset diabetes mellitus in young	Likely benign (Mar 20, 2018)
12-120978422-G-A		not specified • Maturity onset diabetes mellitus in young	Likely benign (Oct 05, 2016)
12-120978424-AG-A		not specified	Uncertain significance (Feb 15, 2018)
12-120978478-T-C		not specified	Uncertain significance (Apr 23, 2018)
12-120978482-G-A		Monogenic diabetes	Uncertain significance (Feb 17, 2022)
12-120978482-GTC-G		Monogenic diabetes	Uncertain significance (Apr 12, 2022)
12-120978486-A-C		Maturity-onset diabetes of the young type 3 • Monogenic diabetes	Likely pathogenic (Aug 18, 2021)
12-120978487-A-G			Uncertain significance (Jan 10, 2024)
12-120978493-A-G			Uncertain significance (Jan 12, 2022)
12-120978511-A-G		Monogenic diabetes • 6 conditions	Uncertain significance (Jan 18, 2024)
12-120978551-T-C		Monogenic diabetes • HNF1A-related disorder	Uncertain significance (Aug 11, 2021)
12-120978554-A-G		Monogenic diabetes	Uncertain significance (Mar 31, 2024)
12-120978582-C-A		Monogenic diabetes	Uncertain significance (Aug 18, 2021)
12-120978582-C-T		Monogenic diabetes	Uncertain significance (Aug 18, 2021)
12-120978588-G-A		HNF1A-related disorder	Uncertain significance (Apr 29, 2019)
12-120978597-A-AGGGTTGG		Monogenic diabetes • 6 conditions • Maturity onset diabetes mellitus in young	Benign (Apr 12, 2022)
12-120978621-C-A		not specified	Uncertain significance (Jan 09, 2024)
12-120978643-TG-T		Maturity-onset diabetes of the young type 3	Pathogenic (Jan 01, 2000)
12-120978645-G-A			Uncertain significance (Jan 18, 2022)
12-120978645-G-C		not specified	Conflicting classifications of pathogenicity (May 23, 2024)
12-120978646-G-A			Likely benign (Oct 31, 2023)
12-120978650-G-A		HNF1A-related disorder	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.245

Haploinsufficiency Scores

• pHI: 0.217
• hipred: N
• hipred_score: 0.287

Mouse Genome Informatics

• Gene name: Has1
• Phenotype: normal phenotype