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.

not_specified (115 variants)
not_provided (1 variants)

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. These statistics are base on transcript: NM_000014750.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			102 clinvar	12 clinvar		114
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	102	13	0

Loading clinvar variants...

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