GIPC3

GIPC PDZ domain containing family member 3, the group of PDZ domain containing

Basic information

Region (hg38): 19:3585478-3593541

Previous symbols: [ "C19orf64", "DFNB72", "DFNB15" ]

Links

ENSG00000179855

∙ NCBI:126326 ∙ OMIM:608792 ∙ HGNC:18183 ∙ Uniprot:Q8TF64 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

autosomal recessive nonsyndromic hearing loss 15 (Strong), mode of inheritance: AR
autosomal recessive nonsyndromic hearing loss 15 (Strong), mode of inheritance: AR
autosomal recessive nonsyndromic hearing loss 15 (Moderate), mode of inheritance: AR
hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
nonsyndromic genetic hearing loss (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 15	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	9286457; 9106521; 17690910; 21326233; 21660509; 23226338; 23510777

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GIPC3 gene.

not_provided (133 variants)
not_specified (46 variants)
Inborn_genetic_diseases (46 variants)
Autosomal_recessive_nonsyndromic_hearing_loss_15 (32 variants)
GIPC3-related_disorder (11 variants)
Rare_genetic_deafness (4 variants)
Hearing_impairment (4 variants)
Nonsyndromic_genetic_hearing_loss (1 variants)
Hearing_loss,_autosomal_recessive (1 variants)
Sensorineural_hearing_loss_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GIPC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000133261.3. 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			2 clinvar	39 clinvar		41
missense	5 clinvar	6 clinvar	93 clinvar	8 clinvar		112
nonsense	2 clinvar	1 clinvar				3
start loss		1				1
frameshift	3 clinvar	8 clinvar				11
splice donor/acceptor (+/-2bp)	1 clinvar	2 clinvar		1 clinvar		4
Total	11	18	95	48	0

Highest pathogenic variant AF is 0.000061688595

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GIPC3	protein_coding	protein_coding	ENST00000322315	6	7989

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00934	0.944	125663	0	27	125690	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.177	173	180	0.963	0.0000117	2007
Missense in Polyphen		60	66.514	0.90207		673
Synonymous	-0.0819	79	78.1	1.01	0.00000551	649
Loss of Function	1.73	5	11.3	0.444	5.72e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000873	0.0000873
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000143	0.000141
Middle Eastern	0.000110	0.000109
South Asian	0.0000983	0.0000980
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion. {ECO:0000250}.;
Disease: DISEASE: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]: A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:21326233, ECO:0000269|PubMed:21660509}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.130

Intolerance Scores

loftool: 0.310
rvis_EVS: -0.14
rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

pHI: 0.243
hipred: N
hipred_score: 0.384
ghis: 0.574

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.180

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Gipc3
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);