MIR9-1HG

MIR9-1 host gene, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 1:156404243-156456987

Previous symbols: [ "C1orf61" ]

Links

ENSG00000125462

∙ NCBI:10485 ∙ OMIM:618747 ∙ HGNC:30780 ∙ Uniprot:Q13536 ∙ 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 MIR9-1HG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR9-1HG 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			2 clinvar			2
Total	0	0	2	0	0

Variants in MIR9-1HG

This is a list of pathogenic ClinVar variants found in the MIR9-1HG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-156407120-G-A		not specified	Uncertain significance (Sep 27, 2021)	3126711
1-156416817-A-G		not specified	Uncertain significance (Jul 13, 2021)	3126710

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MIR9-1HG	protein_coding	protein_coding	ENST00000368243	5	26452

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000107	0.208	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.367	74	83.4	0.887	0.00000408	1009
Missense in Polyphen		12	15.823	0.75838		175
Synonymous	-0.690	37	32.0	1.16	0.00000156	311
Loss of Function	-0.372	7	6.01	1.16	2.55e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000640	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000365	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000675	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a role in FOS signaling pathways involved in development and remodeling of neurons. Promotes transcription of the FOS promoter. {ECO:0000269|PubMed:10995546}.;

Recessive Scores

pRec: 0.0679

Intolerance Scores

loftool: 0.515
rvis_EVS: -0.08
rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

pHI: 0.0294
hipred: N
hipred_score: 0.153
ghis: 0.575

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

Gene ontology

Biological process: positive regulation of transcription by RNA polymerase II
Cellular component: nucleus
Molecular function: molecular_function