ANGPTL7

angiopoietin like 7, the group of Angiopoietin like family|Fibrinogen C domain containing|Receptor ligands

Basic information

Region (hg38): 1:11189354-11195981

Links

ENSG00000171819 ∙ NCBI:10218 ∙ OMIM:618517 ∙ HGNC:24078 ∙ Uniprot:O43827 ∙ 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 ANGPTL7 gene.

• Inborn genetic diseases (12 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPTL7 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				1		1
missense			12		2	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	2

Variants in ANGPTL7

This is a list of pathogenic ClinVar variants found in the ANGPTL7 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-11189619-A-G		not specified	Uncertain significance (Jul 20, 2022)
1-11189701-A-G		not specified	Uncertain significance (Nov 14, 2023)
1-11189840-C-G		not specified	Uncertain significance (Dec 28, 2022)
1-11189847-C-T		not specified	Uncertain significance (Nov 07, 2022)
1-11189848-G-A		not specified	Uncertain significance (Apr 06, 2023)
1-11189860-G-A		not specified	Uncertain significance (Dec 19, 2023)
1-11192312-G-A			Likely benign (Dec 01, 2023)
1-11192345-A-C		not specified	Uncertain significance (Aug 22, 2023)
1-11193627-G-T			Benign (Apr 01, 2024)
1-11193664-T-C		not specified	Uncertain significance (Jun 06, 2023)
1-11193676-A-C		not specified	Uncertain significance (Jan 26, 2022)
1-11193743-G-T		not specified	Uncertain significance (Mar 31, 2023)
1-11193760-C-T			Benign (Jan 01, 2024)
1-11194471-G-C		not specified	Uncertain significance (Sep 14, 2023)
1-11194479-C-T		not specified	Uncertain significance (Jan 04, 2024)
1-11194599-T-A		not specified	Uncertain significance (Jan 17, 2024)
1-11194651-T-A		not specified	Uncertain significance (Oct 14, 2023)
1-11194653-C-T		not specified	Uncertain significance (Sep 14, 2023)
1-11194657-A-G		not specified	Uncertain significance (Dec 19, 2022)
1-11194893-A-G		not specified	Uncertain significance (Dec 27, 2023)
1-11194907-C-T		not specified	Uncertain significance (Dec 13, 2023)
1-11194912-G-A			Likely benign (Mar 01, 2023)
1-11195001-G-A		not specified	Uncertain significance (Nov 30, 2022)
1-11195016-A-G		not specified	Uncertain significance (Aug 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANGPTL7	protein_coding	protein_coding	ENST00000376819	5	6641

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.17e-17	0.00128	125605	0	143	125748	0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.132	201	206	0.974	0.0000123	2297
Missense in Polyphen		79	87.037	0.90766		952
Synonymous	-0.475	85	79.6	1.07	0.00000474	634
Loss of Function	-0.967	22	17.6	1.25	8.49e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00361	0.00361
Ashkenazi Jewish	0.000401	0.000397
East Asian	0.000871	0.000870
Finnish	0.00	0.00
European (Non-Finnish)	0.000469	0.000466
Middle Eastern	0.000871	0.000870
South Asian	0.000165	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.540
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.803
• hipred: N
• hipred_score: 0.350
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.187

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Angptl7

Gene ontology

• Biological process: response to oxidative stress
• Cellular component: extracellular region
• Molecular function: protein binding