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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

Highest pathogenic variant AF is 0.00000733374

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