MIR1-1HG

MIR1-1 host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 20:62550440-62570777

Previous symbols: [ "C20orf166" ]

Links

ENSG00000174407 ∙ NCBI:128826 ∙ ∙ HGNC:16159 ∙ Uniprot:Q9H1L0 ∙ 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 MIR1-1HG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR1-1HG 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						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIR1-1HG	protein_coding	protein_coding	ENST00000370527	3	20312

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00347	0.404	124269	0	7	124276	0.0000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.413	78	68.4	1.14	0.00000410	742
Missense in Polyphen		8	7.5036	1.0661		62
Synonymous	-1.64	42	30.5	1.38	0.00000218	226
Loss of Function	-0.610	3	2.06	1.46	8.69e-8	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000360	0.000358
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000968	0.00000889
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.87

Haploinsufficiency Scores

• pHI: 0.0694
• hipred: N
• hipred_score: 0.153
• ghis: 0.470

Essentials

• essential_gene_gene_trap: N