KRI1

KRI1 homolog

Basic information

Region (hg38): 19:10553085-10566031

Links

ENSG00000129347 ∙ NCBI:65095 ∙ ∙ HGNC:25769 ∙ Uniprot:Q8N9T8 ∙ 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 KRI1 gene.

• not_specified (115 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000023008.5. 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				2		2
missense			105	8		113
nonsense						0
start loss			2			2
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	107	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRI1	protein_coding	protein_coding	ENST00000312962	19	12953

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.04e-15	0.936	125663	0	85	125748	0.000338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.139	430	438	0.981	0.0000288	4645
Missense in Polyphen		106	118.9	0.89154		1274
Synonymous	0.994	162	179	0.905	0.0000123	1237
Loss of Function	2.24	30	46.5	0.646	0.00000226	547

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000722	0.000597
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000336	0.000299
Middle Eastern	0.000544	0.000544
South Asian	0.000719	0.000719
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0943

Intolerance Scores

• loftool: 0.955
• rvis_EVS: 1.54
• rvis_percentile_EVS: 95.59

Haploinsufficiency Scores

• pHI: 0.274
• hipred: Y
• hipred_score: 0.646
• ghis: 0.443

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.853

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Kri1

Zebrafish Information Network

• Gene name: kri1
• Affected structure: ventral wall of dorsal aorta
• Phenotype tag: abnormal
• Phenotype quality: normal amount

Gene ontology

• Biological process: endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
• Cellular component: nucleolus;90S preribosome
• Molecular function: RNA binding