ZGLP1

zinc finger GATA like protein 1, the group of GATA zinc finger domain containing

Basic information

Region (hg38): 19:10304803-10309880

Links

ENSG00000220201 ∙ NCBI:100125288 ∙ OMIM:611639 ∙ HGNC:37245 ∙ Uniprot:P0C6A0 ∙ 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 ZGLP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZGLP1 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4			4
Total	0	0	19	2	0

Variants in ZGLP1

This is a list of pathogenic ClinVar variants found in the ZGLP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-10305155-T-C		not specified	Likely benign (Sep 29, 2023)
19-10305195-C-T		not specified	Uncertain significance (Jun 17, 2024)
19-10305203-T-C		not specified	Uncertain significance (Oct 09, 2024)
19-10305460-G-A		not specified	Uncertain significance (Jul 27, 2024)
19-10305851-G-A		not specified	Uncertain significance (May 10, 2022)
19-10305876-C-T		not specified	Uncertain significance (Apr 18, 2023)
19-10305878-G-C		not specified	Likely benign (Apr 20, 2024)
19-10305884-C-G		not specified	Uncertain significance (Sep 04, 2024)
19-10305888-G-T		not specified	Uncertain significance (Jul 25, 2023)
19-10305915-C-G		not specified	Uncertain significance (Jul 13, 2021)
19-10305936-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-10308218-G-A		not specified	Uncertain significance (Feb 07, 2025)
19-10308261-C-T		not specified	Uncertain significance (May 23, 2024)
19-10308305-C-T		not specified	Uncertain significance (Nov 25, 2024)
19-10308350-C-T		not specified	Uncertain significance (Nov 11, 2024)
19-10308377-G-C		not specified	Uncertain significance (Aug 15, 2024)
19-10308389-T-C		not specified	Uncertain significance (Jun 04, 2024)
19-10308455-G-A		not specified	Uncertain significance (Mar 12, 2024)
19-10308470-G-A		not specified	Uncertain significance (Sep 30, 2021)
19-10308548-G-T		not specified	Uncertain significance (Oct 27, 2021)
19-10308591-T-A		not specified	Uncertain significance (Aug 12, 2024)
19-10308629-G-C		not specified	Uncertain significance (Nov 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZGLP1	protein_coding	protein_coding	ENST00000403903	4	5078

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.387	0.604	117296	0	1	117297	0.00000426

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	120	165	0.726	0.0000102	1703
Missense in Polyphen		14	43.662	0.32064		437
Synonymous	0.331	64	67.5	0.949	0.00000426	576
Loss of Function	2.20	2	9.18	0.218	3.91e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000331	0.0000331
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor that plays a central role in somatic cells of the gonad and is required for germ cell development. Able to repress GATA transcription factor function (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.312
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.172
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: 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

Mouse Genome Informatics

• Gene name: Zglp1
• Phenotype: endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;multicellular organism development;spermatogenesis;oocyte development
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;zinc ion binding;sequence-specific DNA binding