CGB7

chorionic gonadotropin subunit beta 7, the group of Glycoprotein hormone subunits

Basic information

Region (hg38): 19:49054274-49058860

Links

ENSG00000196337 ∙ NCBI:94027 ∙ OMIM:608826 ∙ HGNC:16451 ∙ Uniprot:P0DN87 ∙ 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 CGB7 gene.

• not_specified (36 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CGB7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001385261.1. 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			32	4		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	33	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CGB7	protein_coding	protein_coding	ENST00000597853	3	4587

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00526	0.486	125506	2	73	125581	0.000299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.923	111	86.8	1.28	0.00000569	1013
Missense in Polyphen		48	36.12	1.3289		445
Synonymous	-1.78	49	35.5	1.38	0.00000220	360
Loss of Function	-0.181	3	2.68	1.12	1.14e-7	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000209	0.000209
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000110	0.0000924
European (Non-Finnish)	0.000682	0.000511
Middle Eastern	0.000109	0.000109
South Asian	0.000439	0.000163
Other	0.000882	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role for pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. {ECO:0000305}.
• Pathway: GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i (Consensus)

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: apoptotic process;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;female gamete generation;hormone-mediated signaling pathway;regulation of signaling receptor activity
• Cellular component: extracellular space;cytoplasm
• Molecular function: hormone activity