DFNA15
MCID: DFN117
MIFTS: 38

Deafness, Autosomal Dominant 15 (DFNA15)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 15

MalaCards integrated aliases for Deafness, Autosomal Dominant 15:

Name: Deafness, Autosomal Dominant 15 57 29 13 6 70
Dfna15 57 12 72 54
Autosomal Dominant Nonsyndromic Deafness 15 12 15
Deafness, Autosomal Dominant, Type 15 39
Deafness, Autosomal Dominant, 15 72
Autosomal Dominant Deafness 15 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
onset between the second and sixth decades


HPO:

31
deafness, autosomal dominant 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110546
OMIM® 57 602459
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1865366
UMLS 70 C1865366

Summaries for Deafness, Autosomal Dominant 15

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the POU4F3 gene on chromosome 5q32.

MalaCards based summary : Deafness, Autosomal Dominant 15, also known as dfna15, is related to deafness, autosomal dominant 11 and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 15 is POU4F3 (POU Class 4 Homeobox 3). Related phenotypes are hearing impairment and hearing/vestibular/ear

OMIM® : 57 Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by Kim et al., 2013). (602459) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 15: A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms.

Related Diseases for Deafness, Autosomal Dominant 15

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 11 29.7 POU4F3 MYO7A GSDME COL11A2
2 branchiootic syndrome 1 29.6 TMC1 MYO7A
3 deafness, autosomal dominant 9 28.7 POU4F3 MYO7A MYO6 KCNQ4 GSDME FAM136A
4 autosomal dominant non-syndromic sensorineural deafness type dfna 28.4 TMC1 POU4F3 MYO7A MYO6 KCNQ4 GSDME
5 nonsyndromic hearing loss 28.4 TMC1 POU4F3 POU3F4 MYO7A MYO6 KCNQ4
6 nonsyndromic deafness 10.3 KCNQ4 COL11A2
7 deafness, autosomal dominant 24 10.3 POU4F3 CCDC50
8 deafness, autosomal dominant 51 10.2 GSDME CCDC50
9 deafness, autosomal dominant 21 10.2 GSDME COL11A2
10 deafness, autosomal dominant 50 10.2 POU4F3 CCDC50
11 deafness, autosomal dominant 41 10.1 POU4F3 KCNQ4 GSDME
12 deafness, autosomal dominant 2b 10.1 POU4F3 KCNQ4 CCDC50
13 deafness, autosomal dominant 2a 10.1 POU4F3 KCNQ4 CCDC50
14 labyrinthitis 10.1 MYO7A ATOH1
15 drug-induced hearing loss 10.1 MYO7A ATOH1
16 deafness, autosomal dominant 28 10.1 KCNQ4 GSDME FAM136A
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 x-linked nonsyndromic deafness 10.1 POU4F3 POU3F4
19 deafness, autosomal dominant 48 10.0 MYO7A MYO6
20 vestibular disease 10.0 MYO7A KCNQ4 FAM136A
21 branchiootic syndrome 10.0 MYO7A KCNQ4
22 peripheral vertigo 10.0 MYO7A KCNQ4 FAM136A
23 meniere disease 10.0 MYO7A KCNQ4 FAM136A
24 deafness, autosomal recessive 37 10.0 MYO7A MYO6
25 deafness, autosomal recessive 30 10.0 MYO7A MYO6
26 deafness, autosomal recessive 71 10.0 MYO7A MYO6
27 deafness, autosomal dominant 22 10.0 MYO7A MYO6
28 deafness, x-linked 2 10.0 POU4F3 POU3F4
29 inner ear disease 10.0 MYO7A KCNQ4 ATOH1
30 choroid disease 10.0 POU3F4 MYO7A
31 deafness, autosomal dominant 44 10.0 POU4F3 KCNQ4 COL11A2 CCDC50
32 autosomal recessive nonsyndromic deafness 10.0 TMC1 MYO7A
33 deafness, autosomal dominant 43 9.9 POU4F3 MYO6 CCDC50
34 deafness, autosomal dominant 13 9.9 KCNQ4 GSDME COL11A2 CCDC50
35 deafness, autosomal dominant 25 9.9 POU4F3 MYO7A KCNQ4 CCDC50
36 waardenburg's syndrome 9.9 POU3F4 MYO7A KCNQ4
37 age-related hearing loss 9.9
38 deafness, autosomal dominant 17 9.9 MYO7A MYO6 KCNQ4
39 deafness, autosomal recessive 48 9.9 TMC1 MYO7A
40 usher syndrome, type ic 9.9 TMC1 MYO7A
41 non-syndromic genetic deafness 9.9 MYO7A MYO6 KCNQ4
42 deafness, autosomal recessive 7 9.9 TMC1 MYO7A
43 deafness, autosomal recessive 21 9.9 TMC1 COL11A2
44 deafness, autosomal recessive 2 9.9 TMC1 MYO7A
45 deafness, y-linked 1 9.8 TMC1 POU3F4
46 deafness, autosomal dominant 36 9.8 TMC1 KCNQ4 GSDME
47 deafness, autosomal recessive 63 9.8 TMC1 MYO7A
48 deafness, autosomal recessive 23 9.8 TMC1 MYO7A
49 deafness, autosomal dominant 16 9.8 POU4F3 MYO6 KCNQ4 CCDC50
50 hereditary hearing loss and deafness 9.8 POU3F4 GSDME COL11A2 CCDC50

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 15:



Diseases related to Deafness, Autosomal Dominant 15

Symptoms & Phenotypes for Deafness, Autosomal Dominant 15

Human phenotypes related to Deafness, Autosomal Dominant 15:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 obligate (100%) HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, postlingual sensorineural
downward sloping or flat audiogram

Clinical features from OMIM®:

602459 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 15:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.65 ATOH1 COL11A2 GSDME KCNQ4 LHX3 MYO6
2 nervous system MP:0003631 9.28 ATOH1 GSDME KCNQ4 LHX3 MYO6 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Dominant 15

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of POU4F3 (DFNA15) and SLC17A8 (DFNA25) Genes Mutations in Dominant Autosomal Deafness and Phenotypic Characterization of Carrier Patients. Terminated NCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 15

Genetic Tests for Deafness, Autosomal Dominant 15

Genetic tests related to Deafness, Autosomal Dominant 15:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 15 29 POU4F3

Anatomical Context for Deafness, Autosomal Dominant 15

Publications for Deafness, Autosomal Dominant 15

Articles related to Deafness, Autosomal Dominant 15:

(show all 25)
# Title Authors PMID Year
1
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. 57 61 54 6
18228599 2008
2
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 61 6 57
24260153 2013
3
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 61 6 57
9506947 1998
4
A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss. 57 6
20434433 2010
5
The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. 61 54 6
14585957 2003
6
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. 61 6
29850532 2018
7
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. 57 61
15254021 2004
8
Aldh inhibitor restores auditory function in a mouse model of human deafness. 61
32970669 2020
9
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. 61
28545070 2017
10
Genetics of vestibular disorders: pathophysiological insights. 61
27083884 2016
11
Mosaic pattern of Cre recombinase expression in cochlear outer hair cells of the Brn3.1 Cre mouse. 61
25714426 2015
12
Inhibition of Myo6 gene expression by co‑expression of a mutant of transcription factor POU4F3 (BRN‑3C) in hair cells. 61
24535414 2014
13
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss. 61
24556497 2014
14
Regulation of the orphan nuclear receptor Nr2f2 by the DFNA15 deafness gene Pou4f3. 61
25372459 2014
15
Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3. 61
19462854 2009
16
Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. 61
19372648 2009
17
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. 61
18347256 2008
18
Molecular modelling insights into DFNA15 mediated enhancement of POU4F3 stability. 61
20054994 2008
19
Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c. 61
17611044 2007
20
Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. 61
17331196 2007
21
Familial Ménière's disease in five generations. 61
16868516 2006
22
DFNA54, a third locus for low-frequency hearing loss. 61
15490091 2004
23
The clinical presentation of DFNA15/POU4F3. 61
12408069 2002
24
Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor. 61
10807331 2000
25
DFNA15. 61
10868222 2000

Variations for Deafness, Autosomal Dominant 15

ClinVar genetic disease variations for Deafness, Autosomal Dominant 15:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POU4F3 NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) Deletion Pathogenic 7078 rs398124631 GRCh37: 5:145719870-145719877
GRCh38: 5:146340307-146340314
2 POU4F3 NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) SNV Pathogenic 7079 rs121909056 GRCh37: 5:145719855-145719855
GRCh38: 5:146340292-146340292
3 POU4F3 NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) SNV Pathogenic 7080 rs121909057 GRCh37: 5:145719658-145719658
GRCh38: 5:146340095-146340095
4 POU4F3 NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) SNV Pathogenic 96710 rs398123070 GRCh37: 5:145719967-145719967
GRCh38: 5:146340404-146340404
5 POU4F3 NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) Deletion Pathogenic 101525 rs1064792854 GRCh37: 5:145719652-145719665
GRCh38: 5:146340089-146340102
6 POU4F3 NM_002700.3(POU4F3):c.184del (p.Ala62fs) Deletion Pathogenic 973500 GRCh37: 5:145719173-145719173
GRCh38: 5:146339610-146339610
7 POU4F3 NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp) SNV Likely pathogenic 973497 GRCh37: 5:145719686-145719686
GRCh38: 5:146340123-146340123
8 POU4F3 NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro) SNV Likely pathogenic 973499 GRCh37: 5:145719625-145719625
GRCh38: 5:146340062-146340062
9 POU4F3 NM_002700.3(POU4F3):c.214C>G (p.His72Asp) SNV Uncertain significance 546983 rs370712489 GRCh37: 5:145719204-145719204
GRCh38: 5:146339641-146339641
10 POU4F3 NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) SNV Uncertain significance 667155 rs756195567 GRCh37: 5:145719285-145719285
GRCh38: 5:146339722-146339722
11 POU4F3 NM_002700.3(POU4F3):c.325C>T (p.His109Tyr) SNV Uncertain significance 973498 GRCh37: 5:145719315-145719315
GRCh38: 5:146339752-146339752
12 POU4F3 NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) SNV Uncertain significance 164981 rs200286254 GRCh37: 5:145719393-145719393
GRCh38: 5:146339830-146339830
13 POU4F3 NM_002700.3(POU4F3):c.24G>A (p.Gln8=) SNV Uncertain significance 907694 GRCh37: 5:145718699-145718699
GRCh38: 5:146339136-146339136
14 POU4F3 NM_002700.3(POU4F3):c.171C>G (p.Ala57=) SNV Uncertain significance 618334 rs781289197 GRCh37: 5:145719161-145719161
GRCh38: 5:146339598-146339598
15 POU4F3 NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) SNV Uncertain significance 373997 rs746613906 GRCh37: 5:145719543-145719543
GRCh38: 5:146339980-146339980
16 POU4F3 NM_002700.3(POU4F3):c.-79C>A SNV Uncertain significance 351378 rs563020230 GRCh37: 5:145718597-145718597
GRCh38: 5:146339034-146339034
17 POU4F3 NM_002700.3(POU4F3):c.591G>A (p.Arg197=) SNV Uncertain significance 351383 rs886060064 GRCh37: 5:145719581-145719581
GRCh38: 5:146340018-146340018
18 POU4F3 NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp) SNV Uncertain significance 351380 rs762622438 GRCh37: 5:145718788-145718788
GRCh38: 5:146339225-146339225
19 POU4F3 NM_002700.3(POU4F3):c.-44C>A SNV Uncertain significance 351379 rs764967073 GRCh37: 5:145718632-145718632
GRCh38: 5:146339069-146339069
20 POU4F3 NM_002700.3(POU4F3):c.442C>T (p.His148Tyr) SNV Uncertain significance 351381 rs761965263 GRCh37: 5:145719432-145719432
GRCh38: 5:146339869-146339869
21 POU4F3 NM_002700.3(POU4F3):c.624G>A (p.Val208=) SNV Uncertain significance 351384 rs759713394 GRCh37: 5:145719614-145719614
GRCh38: 5:146340051-146340051
22 POU4F3 NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys) SNV Uncertain significance 351382 rs886060063 GRCh37: 5:145719567-145719567
GRCh38: 5:146340004-146340004
23 POU4F3 NM_002700.3(POU4F3):c.327C>A (p.His109Gln) SNV Uncertain significance 873502 GRCh37: 5:145719317-145719317
GRCh38: 5:146339754-146339754
24 POU4F3 NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu) SNV Uncertain significance 904353 GRCh37: 5:145719172-145719172
GRCh38: 5:146339609-146339609
25 POU4F3 NM_002700.3(POU4F3):c.309C>T (p.Leu103=) SNV Uncertain significance 904354 GRCh37: 5:145719299-145719299
GRCh38: 5:146339736-146339736
26 POU4F3 NM_002700.3(POU4F3):c.405G>A (p.Pro135=) SNV Uncertain significance 904355 GRCh37: 5:145719395-145719395
GRCh38: 5:146339832-146339832
27 POU4F3 NM_002700.3(POU4F3):c.508C>T (p.His170Tyr) SNV Uncertain significance 904356 GRCh37: 5:145719498-145719498
GRCh38: 5:146339935-146339935
28 POU4F3 NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro) SNV Uncertain significance 905156 GRCh37: 5:145719592-145719592
GRCh38: 5:146340029-146340029
29 POU4F3 NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala) SNV Uncertain significance 905157 GRCh37: 5:145719595-145719595
GRCh38: 5:146340032-146340032
30 POU4F3 NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) SNV Likely benign 351386 rs149303333 GRCh37: 5:145719938-145719938
GRCh38: 5:146340375-146340375
31 POU4F3 NM_002700.3(POU4F3):c.792C>T (p.Ser264=) SNV Benign 227856 rs149975083 GRCh37: 5:145719782-145719782
GRCh38: 5:146340219-146340219
32 POU4F3 NM_002700.3(POU4F3):c.663C>A (p.Gly221=) SNV Benign 164983 rs61737151 GRCh37: 5:145719653-145719653
GRCh38: 5:146340090-146340090
33 POU4F3 NM_002700.3(POU4F3):c.378G>A (p.Thr126=) SNV Benign 178630 rs113137300 GRCh37: 5:145719368-145719368
GRCh38: 5:146339805-146339805
34 POU4F3 NM_002700.3(POU4F3):c.837G>T (p.Thr279=) SNV Benign 44579 rs6885298 GRCh37: 5:145719827-145719827
GRCh38: 5:146340264-146340264
35 POU4F3 NM_002700.3(POU4F3):c.90C>T (p.Ala30=) SNV Benign 44583 rs28994879 GRCh37: 5:145718765-145718765
GRCh38: 5:146339202-146339202

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 15:

72
# Symbol AA change Variation ID SNP ID
1 POU4F3 p.Leu223Pro VAR_045682 rs121909057
2 POU4F3 p.Leu289Phe VAR_045683 rs121909056
3 POU4F3 p.Asp64Val VAR_079859
4 POU4F3 p.Phe194Tyr VAR_079863
5 POU4F3 p.Ser222Leu VAR_079864
6 POU4F3 p.Asn240Tyr VAR_079866
7 POU4F3 p.Ile281Val VAR_079867
8 POU4F3 p.Pro299Leu VAR_079868
9 POU4F3 p.Arg326Lys VAR_079870 rs398123070
10 POU4F3 p.Lys328Glu VAR_079871 rs133929110

Expression for Deafness, Autosomal Dominant 15

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 15.

Pathways for Deafness, Autosomal Dominant 15

GO Terms for Deafness, Autosomal Dominant 15

Biological processes related to Deafness, Autosomal Dominant 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.65 POU4F3 MYO7A MYO6 KCNQ4 ATOH1
2 inner ear development GO:0048839 9.55 POU4F3 POU3F4 MYO7A LHX3 ATOH1
3 inner ear receptor cell differentiation GO:0060113 9.5 POU4F3 MYO7A GSDME
4 vesicle transport along actin filament GO:0030050 9.4 MYO7A MYO6
5 actin filament-based movement GO:0030048 9.37 MYO7A MYO6
6 sensory perception of sound GO:0007605 9.28 TMC1 POU4F3 POU3F4 MYO7A MYO6 KCNQ4
7 inner ear auditory receptor cell differentiation GO:0042491 9.26 POU4F3 MYO7A MYO6 ATOH1

Molecular functions related to Deafness, Autosomal Dominant 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.43 MYO7A MYO6 KCNQ4
2 ADP binding GO:0043531 9.32 MYO7A MYO6
3 microfilament motor activity GO:0000146 9.16 MYO7A MYO6
4 actin-dependent ATPase activity GO:0030898 8.96 MYO7A MYO6
5 sequence-specific DNA binding GO:0043565 8.92 POU4F3 POU3F4 LHX3 ATOH1

Sources for Deafness, Autosomal Dominant 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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