ANGPTL5

angiopoietin like 5, the group of Angiopoietin like family|Fibrinogen C domain containing

Basic information

Region (hg38): 11:101890673-101916522

Links

ENSG00000187151 ∙ NCBI:253935 ∙ OMIM:607666 ∙ HGNC:19705 ∙ Uniprot:Q86XS5 ∙ 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 ANGPTL5 gene.

• Inborn genetic diseases (14 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPTL5 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			11		1	12
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	14	0	2

Variants in ANGPTL5

This is a list of pathogenic ClinVar variants found in the ANGPTL5 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-101891317-T-C		not specified	Uncertain significance (Jul 27, 2022)
11-101891348-G-GT			Benign (Dec 31, 2019)
11-101891430-C-A		not specified	Uncertain significance (Feb 28, 2023)
11-101891433-C-G		not specified	Uncertain significance (Nov 27, 2023)
11-101891433-C-T		not specified	Uncertain significance (Feb 28, 2024)
11-101891434-A-T		not specified	Uncertain significance (Jan 22, 2024)
11-101891437-C-T		not specified	Uncertain significance (May 04, 2022)
11-101891496-T-C		not specified	Uncertain significance (Jun 02, 2023)
11-101891554-T-C		not specified	Uncertain significance (Feb 27, 2024)
11-101894907-C-G		not specified	Uncertain significance (Sep 17, 2021)
11-101895022-T-C		not specified	Uncertain significance (Dec 14, 2023)
11-101895062-C-G		not specified	Uncertain significance (Jan 26, 2023)
11-101902691-A-G		not specified	Uncertain significance (Dec 01, 2022)
11-101904829-G-A		not specified	Uncertain significance (Feb 17, 2022)
11-101905781-T-C		not specified	Uncertain significance (Jan 23, 2024)
11-101905796-A-G			Benign (Dec 28, 2017)
11-101907849-C-T		not specified	Uncertain significance (Jun 03, 2022)
11-101907867-A-G		not specified	Uncertain significance (Oct 06, 2021)
11-101907872-T-C		not specified	Uncertain significance (May 30, 2023)
11-101915297-A-T		not specified	Uncertain significance (Jul 14, 2021)
11-101915343-C-T		not specified	Uncertain significance (Nov 17, 2022)
11-101915361-C-G		not specified	Uncertain significance (May 31, 2023)
11-101915399-C-G		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANGPTL5	protein_coding	protein_coding	ENST00000334289	8	25849

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.13e-10	0.192	125185	6	557	125748	0.00224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.472	219	200	1.09	0.00000948	2576
Missense in Polyphen		57	56.786	1.0038		775
Synonymous	-0.246	72	69.4	1.04	0.00000351	678
Loss of Function	0.586	16	18.7	0.854	8.75e-7	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000663	0.000663
Ashkenazi Jewish	0.00139	0.00139
East Asian	0.0264	0.0264
Finnish	0.00	0.00
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.0264	0.0264
South Asian	0.000784	0.000784
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.628
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.43

Haploinsufficiency Scores

• pHI: 0.143
• hipred: N
• hipred_score: 0.177
• ghis: 0.452

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.386

Gene Damage Prediction

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

Gene ontology

• Cellular component: extracellular region
• Molecular function: protein binding