C21orf91

chromosome 21 open reading frame 91

Basic information

Region (hg38): 21:17788974-17819386

Previous symbols: [ "C21orf38", "C21orf14" ]

Links

ENSG00000154642

∙ NCBI:54149 ∙ ∙ HGNC:16459 ∙ Uniprot:Q9NYK6 ∙ 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 C21orf91 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C21orf91 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in C21orf91

This is a list of pathogenic ClinVar variants found in the C21orf91 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-17818313-G-C		not specified	Uncertain significance (Sep 01, 2021)	2402663

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C21orf91	protein_coding	protein_coding	ENST00000284881	4	30420

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000870	0.942	124755	0	38	124793	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.354	138	150	0.919	0.00000714	1982
Missense in Polyphen		48	58.186	0.82495		788
Synonymous	-0.512	60	55.2	1.09	0.00000271	526
Loss of Function	1.68	7	13.7	0.510	6.49e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000217	0.000216
Ashkenazi Jewish	0.000951	0.000894
East Asian	0.00	0.00
Finnish	0.000232	0.000232
European (Non-Finnish)	0.000107	0.000106
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.000339	0.000330

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post- migratory cortical projection neurons by modulating the beta- catenin signaling pathway. {ECO:0000250|UniProtKB:Q9D7G4}.;

Recessive Scores

pRec: 0.0978

Intolerance Scores

loftool: 0.886
rvis_EVS: 0.79
rvis_percentile_EVS: 87.4

Haploinsufficiency Scores

pHI: 0.324
hipred: N
hipred_score: 0.350
ghis: 0.421

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: D16Ertd472e
Phenotype