TPRN

taperin

Basic information

Region (hg38): 9:137191617-137204193

Previous symbols: [ "C9orf75", "DFNB79" ]

Links

ENSG00000176058 ∙ NCBI:286262 ∙ OMIM:613354 ∙ HGNC:26894 ∙ Uniprot:Q4KMQ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• nonsyndromic genetic hearing loss (Definitive), mode of inheritance: AR
• autosomal recessive nonsyndromic hearing loss 79 (Strong), mode of inheritance: AR
• hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
• autosomal recessive nonsyndromic hearing loss 79 (Strong), mode of inheritance: AR
• autosomal recessive nonsyndromic hearing loss 79 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 79	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	19603065; 20170898; 23340767

ClinVar

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

• not_provided (299 variants)
• Inborn_genetic_diseases (146 variants)
• not_specified (32 variants)
• Autosomal_recessive_nonsyndromic_hearing_loss_79 (31 variants)
• Rare_genetic_deafness (5 variants)
• TPRN-related_disorder (5 variants)
• Hearing_loss,_autosomal_recessive (1 variants)
• Ear_malformation (1 variants)
• Hearing_impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPRN gene is commonly pathogenic or not. These statistics are base on transcript: NM_001128228.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			8	86	5	99
missense			205	30	3	238
nonsense	5	2				7
start loss						0
frameshift	14	11				25
splice donor/acceptor (+/-2bp)						0
Total	19	13	213	116	8

Highest pathogenic variant AF is 0.00026548578

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TPRN	protein_coding	protein_coding	ENST00000409012	4	12577

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125525	0	38	125563	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.497	307	283	1.08	0.0000168	4430
Missense in Polyphen		106	101.92	1.04		1292
Synonymous	-1.91	160	132	1.21	0.00000885	1613
Loss of Function	2.13	6	14.9	0.403	6.86e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000281	0.000273
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000584	0.0000544
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.000202	0.000194
Middle Eastern	0.0000584	0.0000544
South Asian	0.000262	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Gene ontology

• Biological process: sensory perception of sound;stereocilium maintenance
• Cellular component: stereocilium
• Molecular function: molecular_function;protein binding;phosphatase binding