QSER1

glutamine and serine rich 1

Basic information

Region (hg38): 11:32892811-32993316

Links

ENSG00000060749 ∙ NCBI:79832 ∙ OMIM:619440 ∙ HGNC:26154 ∙ Uniprot:Q2KHR3 ∙ 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 QSER1 gene.

• not_specified (185 variants)
• not_provided (6 variants)
• See_cases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the QSER1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001076786.3. 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				4	1	5
missense			174	11		185
nonsense						0
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	177	15	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
QSER1	protein_coding	protein_coding	ENST00000399302	11	100139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000536	124769	0	23	124792	0.0000922

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	750	860	0.872	0.0000414	11271
Missense in Polyphen		170	242.87	0.69998		3229
Synonymous	1.45	282	315	0.896	0.0000154	3459
Loss of Function	6.82	8	69.3	0.115	0.00000344	907

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.000113	0.000111
Finnish	0.0000977	0.0000928
European (Non-Finnish)	0.000157	0.000132
Middle Eastern	0.000113	0.000111
South Asian	0.000131	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0970

Intolerance Scores

• loftool: 0.218
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.36

Haploinsufficiency Scores

• pHI: 0.566
• hipred: Y
• hipred_score: 0.595
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.158

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Qser1