CWF19L2

CWF19 like cell cycle control factor 2

Basic information

Region (hg38): 11:107326360-107457825

Links

ENSG00000152404 ∙ NCBI:143884 ∙ ∙ HGNC:26508 ∙ Uniprot:Q2TBE0 ∙ 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 CWF19L2 gene.

• not_specified (121 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CWF19L2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152434.3. 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				3		3
missense			119	1		120
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	119	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CWF19L2	protein_coding	protein_coding	ENST00000282251	18	131502

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.93e-12	0.981	125531	0	59	125590	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.376	439	417	1.05	0.0000204	5912
Missense in Polyphen		85	89.987	0.94458		1328
Synonymous	0.438	134	141	0.953	0.00000689	1497
Loss of Function	2.39	25	41.6	0.601	0.00000191	649

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000830	0.000809
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000219	0.000211
Middle Eastern	0.000164	0.000163
South Asian	0.000336	0.000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0968

Intolerance Scores

• loftool: 0.787
• rvis_EVS: 0.63
• rvis_percentile_EVS: 83.55

Haploinsufficiency Scores

• pHI: 0.178
• hipred: N
• hipred_score: 0.170
• ghis: 0.503

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.107

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cwf19l2

Zebrafish Information Network

• Gene name: cwf19l2
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: bent

Gene ontology

• Molecular function: protein binding