SERPINI2

serpin family I member 2, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 3:167441913-167478972

Previous symbols: [ "PI14" ]

Links

ENSG00000114204 ∙ NCBI:5276 ∙ OMIM:605587 ∙ HGNC:8945 ∙ Uniprot:O75830 ∙ 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 SERPINI2 gene.

• Inborn genetic diseases (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINI2 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in SERPINI2

This is a list of pathogenic ClinVar variants found in the SERPINI2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-167449318-G-A		not specified	Uncertain significance (Sep 26, 2023)
3-167449387-T-A		not specified	Uncertain significance (Jan 03, 2024)
3-167465213-G-A		not specified	Uncertain significance (Mar 29, 2023)
3-167465230-T-C		not specified	Uncertain significance (Nov 21, 2022)
3-167465270-C-T		not specified	Uncertain significance (Oct 24, 2023)
3-167465344-C-T		not specified	Uncertain significance (Aug 17, 2021)
3-167465481-T-A		not specified	Uncertain significance (Jan 10, 2022)
3-167465497-G-T		not specified	Uncertain significance (Sep 16, 2021)
3-167465592-C-G		not specified	Uncertain significance (Aug 12, 2022)
3-167465653-A-T		not specified	Uncertain significance (May 31, 2022)
3-167467094-C-A		not specified	Uncertain significance (Jan 23, 2024)
3-167467232-G-T		not specified	Uncertain significance (Jun 29, 2022)
3-167471596-G-C		not specified	Uncertain significance (Mar 16, 2022)
3-167471666-C-T		not specified	Uncertain significance (Oct 05, 2023)
3-167471669-G-A		not specified	Uncertain significance (Apr 25, 2022)
3-167471713-T-A		not specified	Uncertain significance (May 09, 2022)
3-167471771-A-G		not specified	Uncertain significance (Jan 23, 2024)
3-167478907-T-A		not specified	Uncertain significance (Mar 02, 2023)
3-167478956-C-G		not specified	Uncertain significance (Mar 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINI2	protein_coding	protein_coding	ENST00000476257	8	37216

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.95e-15	0.00852	125560	0	175	125735	0.000696

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.453	177	195	0.909	0.00000860	2667
Missense in Polyphen		57	69.732	0.81742		1000
Synonymous	1.22	54	66.6	0.810	0.00000318	720
Loss of Function	-0.267	21	19.7	1.06	8.32e-7	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000345	0.000331
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.00164	0.00163
Finnish	0.00255	0.00254
European (Non-Finnish)	0.000613	0.000607
Middle Eastern	0.00164	0.00163
South Asian	0.000233	0.000229
Other	0.000819	0.000815

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.431
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

• pHI: 0.0740
• hipred: N
• hipred_score: 0.170
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.578

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpini2
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; immune system phenotype; digestive/alimentary phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype

Gene ontology

• Biological process: negative regulation of endopeptidase activity
• Cellular component: extracellular space;extracellular exosome
• Molecular function: serine-type endopeptidase inhibitor activity;protein binding