GALP

galanin like peptide, the group of Neuropeptides

Basic information

Region (hg38): 19:56176007-56185775

Links

ENSG00000197487 ∙ NCBI:85569 ∙ OMIM:611178 ∙ HGNC:24840 ∙ Uniprot:Q9UBC7 ∙ 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 GALP gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GALP 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in GALP

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

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

Position	Type	Phenotype	Significance	ClinVar
19-56177124-G-A		not specified	Uncertain significance (Jun 29, 2023)
19-56177133-G-C		not specified	Uncertain significance (Jun 28, 2023)
19-56177158-G-T		not specified	Uncertain significance (Nov 17, 2023)
19-56177187-G-A		not specified	Uncertain significance (Apr 07, 2023)
19-56177188-C-T		not specified	Likely benign (Nov 07, 2023)
19-56177194-G-A		not specified	Likely benign (Apr 28, 2022)
19-56180590-G-A		not specified	Uncertain significance (Aug 17, 2021)
19-56180613-G-T		not specified	Uncertain significance (Jan 26, 2023)
19-56183207-T-C		not specified	Uncertain significance (Feb 22, 2023)
19-56185249-G-T		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GALP	protein_coding	protein_coding	ENST00000357330	5	9756

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000294	0.348	125722	0	25	125747	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.181	72	67.8	1.06	0.00000377	733
Missense in Polyphen		6	7.1789	0.83578		84
Synonymous	-0.263	28	26.3	1.07	0.00000144	240
Loss of Function	0.116	7	7.34	0.954	4.13e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.000871	0.000870
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.00000879
Middle Eastern	0.000871	0.000870
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1: Hypothalamic neuropeptide which binds to the G-protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion.

Recessive Scores

• pRec: 0.151

Intolerance Scores

• loftool: 0.517
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.04

Haploinsufficiency Scores

• pHI: 0.199
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0790

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Galp
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: neuropeptide signaling pathway;biological_process;regulation of signaling receptor activity;regulation of appetite;response to insulin;behavioral response to starvation;defense response to Gram-negative bacterium;antimicrobial humoral immune response mediated by antimicrobial peptide
• Cellular component: cellular_component;extracellular region
• Molecular function: hormone activity