DLGAP5

DLG associated protein 5

Basic information

Region (hg38): 14:55148112-55191608

Previous symbols: [ "DLG7" ]

Links

ENSG00000126787 ∙ NCBI:9787 ∙ OMIM:617859 ∙ HGNC:16864 ∙ Uniprot:Q15398 ∙ 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 DLGAP5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DLGAP5 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			45	6		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	45	6	0

Variants in DLGAP5

This is a list of pathogenic ClinVar variants found in the DLGAP5 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-55148427-T-G		not specified	Uncertain significance (Mar 28, 2024)
14-55148430-C-T		not specified	Uncertain significance (Sep 08, 2024)
14-55150822-T-C		not specified	Uncertain significance (Apr 27, 2023)
14-55151713-T-C		not specified	Uncertain significance (Jul 06, 2021)
14-55151763-C-T		not specified	Uncertain significance (Jan 25, 2023)
14-55151800-T-C		not specified	Uncertain significance (Sep 12, 2023)
14-55151828-A-C		not specified	Uncertain significance (Jan 26, 2023)
14-55151907-A-G		not specified	Uncertain significance (Jan 07, 2022)
14-55151934-T-C		not specified	Uncertain significance (Jul 27, 2024)
14-55151941-C-T		not specified	Uncertain significance (Apr 11, 2023)
14-55154627-G-T		not specified	Uncertain significance (Apr 04, 2024)
14-55154639-A-T		not specified	Uncertain significance (Jan 12, 2024)
14-55154668-G-A		not specified	Uncertain significance (Nov 17, 2022)
14-55154692-G-A		not specified	Uncertain significance (Oct 04, 2022)
14-55154698-G-A		not specified	Uncertain significance (Apr 23, 2024)
14-55154737-G-C		not specified	Uncertain significance (Feb 10, 2022)
14-55154749-T-C		not specified	Likely benign (May 18, 2023)
14-55154782-G-C		not specified	Uncertain significance (Dec 06, 2024)
14-55158590-T-C		not specified	Uncertain significance (May 10, 2024)
14-55158621-A-G		not specified	Uncertain significance (May 24, 2023)
14-55158637-T-A		not specified	Uncertain significance (Jan 12, 2024)
14-55158643-T-A		not specified	Uncertain significance (Mar 15, 2024)
14-55158650-G-A		not specified	Uncertain significance (Apr 09, 2024)
14-55158651-C-A		not specified	Uncertain significance (Apr 09, 2024)
14-55158660-T-C		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DLGAP5	protein_coding	protein_coding	ENST00000247191	18	43567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.18e-14	0.892	125704	0	43	125747	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.108	409	415	0.985	0.0000198	5567
Missense in Polyphen		81	85.69	0.94526		1213
Synonymous	0.393	134	140	0.958	0.00000696	1552
Loss of Function	2.09	29	44.0	0.659	0.00000250	559

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000477	0.000467
Ashkenazi Jewish	0.00	0.00
East Asian	0.000549	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.000549	0.000544
South Asian	0.000164	0.000163
Other	0.000517	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells. {ECO:0000269|PubMed:12527899, ECO:0000269|PubMed:14699157, ECO:0000269|PubMed:15145941}.
• Pathway: Signal Transduction;NOTCH3 Intracellular Domain Regulates Transcription;Signaling by NOTCH3;Signaling by NOTCH;Aurora A signaling (Consensus)

Recessive Scores

• pRec: 0.0897

Intolerance Scores

• loftool: 0.972
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.66

Haploinsufficiency Scores

• pHI: 0.210
• hipred: N
• hipred_score: 0.233
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.477

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dlgap5
• Phenotype: embryo phenotype; reproductive system phenotype

Gene ontology

• Biological process: protein dephosphorylation;mitotic chromosome movement towards spindle pole;positive regulation of transcription of Notch receptor target;cell population proliferation;positive regulation of mitotic metaphase/anaphase transition
• Cellular component: nucleus;mitochondrion;microtubule organizing center;cytosol;spindle pole centrosome
• Molecular function: phosphoprotein phosphatase activity;protein binding