SERPINA7

serpin family A member 7, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): X:106032435-106038727

Previous symbols: [ "TBG" ]

Links

ENSG00000123561 ∙ NCBI:6906 ∙ OMIM:314200 ∙ HGNC:11583 ∙ Uniprot:P05543 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Thyroxine-binding globulin deficiency; Thyroxine-binding globulin excess	XL	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Endocrine	8530630; 11600582; 11889160; 19415532

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINA7 gene.

• not_specified (37 variants)
• Thyroxine-binding_globulin_quantitative_trait_locus (14 variants)
• not_provided (12 variants)
• SERPINA7-related_disorder (4 variants)
• Thyroxine-binding_globulin_deficiency (2 variants)
• Thyroxine-binding_globulin_deficiency,_partial (2 variants)
• Thyroxine-binding_globulin,_Chicago (1 variants)
• Thyroxine-binding_globulin,_slow (1 variants)
• Thyroxine-binding_globulin,_variant_A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000354.6. 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					1	1
missense	4		40	7	3	54
nonsense			1			1
start loss						0
frameshift	2		7			9
splice donor/acceptor (+/-2bp)			1			1
Total	6	0	49	7	4

Highest pathogenic variant AF is 0.00602697

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINA7	protein_coding	protein_coding	ENST00000327674	4	5533

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00261	0.803	125547	2	10	125559	0.0000478

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.656	166	144	1.15	0.00000978	2745
Missense in Polyphen		45	43.927	1.0244		970
Synonymous	-1.93	73	54.8	1.33	0.00000385	811
Loss of Function	1.06	5	8.28	0.604	5.24e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000365	0.0000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000289	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000615	0.0000441
Middle Eastern	0.000289	0.000217
South Asian	0.000157	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Major thyroid hormone transport protein in serum.
• Pathway: Thyroid hormone synthesis - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.119
• rvis_EVS: 0.99
• rvis_percentile_EVS: 90.56

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.131

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.162

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpina7

Gene ontology

• Biological process: negative regulation of endopeptidase activity;thyroid hormone transport
• Cellular component: extracellular region;extracellular space;extracellular exosome
• Molecular function: serine-type endopeptidase inhibitor activity