Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	65217
Gene name Gene Name - the full gene name approved by the HGNC.	Protocadherin related 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCDH15
Synonyms (NCBI Gene) Gene synonyms aliases	CDHR15, DFNB23, USH1F
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gen

Show/Hide all(134)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12246234	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs45483395	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs111033260	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs111033445	G>A,C,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs113363047	TTG>-	Pathogenic, benign	Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs137853001	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs137853002	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853003	G>A,C,T	Pathogenic, likely-pathogenic	Synonymous variant, missense variant, non coding transcript variant, stop gained, coding sequence variant
rs137853004	G>C	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs138010738	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs138983888	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs139668636	G>A	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs140736502	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143842048	G>A,C	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs145017164	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs146199636	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs146796009	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs150784450	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs181306086	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs199469706	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs201161336	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201328768	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs201855435	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant, intron variant
rs202033121	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs267606932	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368308772	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs370261904	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs375855445	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs397515566	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs397517451	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs397517452	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397517462	AGGAGG>-,AGG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs483352837	CAA>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs545191822	->GTTT	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs559130985	CGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGG	Likely-pathogenic, uncertain-significance, benign	Non coding transcript variant, inframe insertion, inframe deletion, genic downstream transcript variant, coding sequence variant
rs561144747	TTC>-	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion
rs727504070	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs727504301	G>A,C	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs748086016	TAGAAGGAGGAGAGGGA>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs748706627	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs753690225	GAAGAGGAAG>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs753832779	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs754391973	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, missense variant
rs754543131	A>G	Uncertain-significance, likely-pathogenic	Splice donor variant
rs756692340	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs757027638	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758685587	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758921360	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs758947077	C>G,T	Likely-pathogenic	Splice donor variant
rs759187261	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs763797356	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant, intron variant
rs766484375	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs767526540	AGAAGGAGGAGAAATAGGAGGAGGAGG>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs769348776	GGGCACGGTCCTGTT>-	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs770832663	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs773404494	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs774056663	->ATAGTATT	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs774857947	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs781148814	->T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs781339303	TG>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs876657418	C>T	Pathogenic	Splice acceptor variant
rs903145299	A>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs907693214	C>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs989521806	T>A	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1040514625	T>C	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1056396947	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant, 3 prime UTR variant
rs1057516268	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516342	G>A,C	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1057516351	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516470	C>A	Likely-pathogenic	Splice donor variant
rs1057516472	A>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057516474	T>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057516560	TTGAAAGAAAAGAA>-	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1057516613	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516656	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516780	->ATCTC	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516821	->CTAC	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516892	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516974	T>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516992	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517048	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517150	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517182	TGAAAGTGGGTGAGTTGTCATTCCTGTCT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517251	G>A,C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs1057517261	GATT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1057517264	AC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517284	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517325	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517419	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1057517443	A>C	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1057520678	A>G,T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1057520709	C>G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1248401224	->A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1264383341	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1304228309	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1328440878	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1384677442	G>A,C,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1402893508	C>A,G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554806149	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1554816541	AT>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554822703	A>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554822891	GC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554822897	->CTTT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554823229	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1554823231	C>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1554824185	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554833227	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554833242	->CTATCTT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833249	ATCT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833314	TTGA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833699	C>-	Likely-pathogenic	Splice donor variant
rs1554836566	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554852472	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554872194	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554873550	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554882546	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554882652	->ATCACAGG	Pathogenic	Non coding transcript variant, inframe indel, stop gained, coding sequence variant, genic downstream transcript variant
rs1554883705	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554903842	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1554903979	A>C	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1554934073	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554940316	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554956023	A>G	Likely-pathogenic	Splice donor variant
rs1554956088	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555135419	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564949059	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1589036783	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1589072933	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589156388	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1589821731	C>T	Likely-pathogenic	Coding sequence variant, splice donor variant, missense variant
rs1589950125	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1590691343	A>C	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1591019480	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1591095476	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all(39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734052	hsa-miR-22-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	31891366
MIRT1216766	hsa-miR-3174	CLIP-seq
MIRT1216767	hsa-miR-4424	CLIP-seq
MIRT1216768	hsa-miR-4765	CLIP-seq
MIRT1216769	hsa-miR-125a-5p	CLIP-seq
MIRT1216770	hsa-miR-125b	CLIP-seq
MIRT1216771	hsa-miR-1279	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216773	hsa-miR-146b-3p	CLIP-seq
MIRT1216774	hsa-miR-1913	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216776	hsa-miR-3173-5p	CLIP-seq
MIRT1216777	hsa-miR-324-3p	CLIP-seq
MIRT1216778	hsa-miR-4251	CLIP-seq
MIRT1216779	hsa-miR-4319	CLIP-seq
MIRT1216780	hsa-miR-4324	CLIP-seq
MIRT1216781	hsa-miR-4477a	CLIP-seq
MIRT1216782	hsa-miR-4762-5p	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216785	hsa-miR-548c-3p	CLIP-seq
MIRT1216786	hsa-miR-578	CLIP-seq
MIRT1216787	hsa-miR-580	CLIP-seq
MIRT1216788	hsa-miR-874	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT1216790	hsa-miR-944	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT2439220	hsa-miR-659	CLIP-seq
MIRT2455989	hsa-miR-3163	CLIP-seq
MIRT2455990	hsa-miR-3662	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IDA	14570705
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	16369489
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	15537665
GO:0007605	Process	Sensory perception of sound	IMP	11398101
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS	14570705
GO:0045202	Component	Synapse	IDA	11487575
GO:0045494	Process	Photoreceptor cell maintenance	IMP	11398101
GO:0048839	Process	Inner ear development	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IEA
GO:0050957	Process	Equilibrioception	IMP	16679490

MIM	HGNC	e!Ensembl
605514	14674	ENSG00000150275

Protein

UniProt ID

Q96QU1

Protein name

Protocadherin-15

Protein function

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

PDB

4XHZ , 5T4M , 5T4N , 5ULY , 6E8F , 6EB5 , 6MFO , 6N2E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18432	ECD	31 → 140	Extracellular Cadherin domain	Domain
PF00028	Cadherin	152 → 256	Cadherin domain	Domain
PF00028	Cadherin	514 → 606	Cadherin domain	Domain
PF00028	Cadherin	621 → 708	Cadherin domain	Domain
PF00028	Cadherin	723 → 810	Cadherin domain	Domain
PF00028	Cadherin	824 → 917	Cadherin domain	Domain
PF00028	Cadherin	931 → 1027	Cadherin domain	Domain
PF00028	Cadherin	1044 → 1135	Cadherin domain	Domain
PF00028	Cadherin	1149 → 1243	Cadherin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of feta

Sequence

MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNM
LIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQC
INKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDID
DGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQN
LNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIV
TPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQK
FDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNL
TSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFS
ITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGS
NGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICT
VYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRV
FNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPY
LPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNRE
VRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQ
IEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFD
IYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPA
SRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSA
TVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTF
GINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNH
PPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETY
TGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLV
EKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRA
IDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLAL
AFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPP
PPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDG
SLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKS
KSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRG
SSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRT
VELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNI
SPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSV
STSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKS
SMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCP
SEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL

Sequence length

1955

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 23, Childhood onset hearing loss	rs1057516342, rs202033121, rs1168400018, rs1328440878, rs773404494, rs1057517264, rs1304228309, rs1554822897, rs137853001, rs1057517251, rs1589950125, rs770832663, rs267606932, rs1554883705, rs757027638 View all (25 more)	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1564949059	N/A
retinal dystrophy	Retinal dystrophy	rs1057517251, rs763797356, rs1402893508, rs143842048, rs758921360	N/A
Usher Syndrome	Usher syndrome type 1F, Usher syndrome type 1D, usher syndrome type 1, Usher syndrome type 1G, usher syndrome	rs1304228309, rs1554822897, rs137853001, rs1057517251, rs1589950125, rs1057516268, rs137853003, rs1554873550, rs201328768, rs727504301, rs1554833227, rs989521806, rs770832663, rs137853004, rs1554883705 View all (76 more)	N/A
Progressive Cone Dystrophy	progressive cone dystrophy (without rod involvement)	rs781339303	N/A

Show/Hide Unknown Diseases (12)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Disease-free survival in breast cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Irritable Bowel Syndrome	Irritable bowel syndrome	N/A	N/A	GWAS
Nonsyndromic Deafness	nonsyndromic deafness	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Retinitis Pigmentosa	Retinitis pigmentosa-deafness syndrome, retinitis pigmentosa	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Autism Spectrum Disorder	Associate	34948243
Bipolar Disorder	Associate	31540999, 35667888
Calcinosis Cutis	Associate	31937901
Deaf Blind Disorders	Associate	18719945
Deafness	Associate	18719945, 23767834, 26011067, 29568747, 29692870, 31992338, 32048449, 36384460
Deafness Autosomal Recessive	Associate	29568747
Deafness Autosomal Recessive 23	Associate	22815625
Disease	Associate	37884635
Eye Diseases Hereditary	Associate	36729443
Glioma	Associate	35637313
Graves Disease	Associate	27304844
Graves Ophthalmopathy	Associate	27304844
Growth Hormone Secreting Pituitary Adenoma	Associate	36233050
Hearing Loss	Associate	18719945, 25462672, 27766948, 28281779, 29692870, 37198144, 37232061
Hearing Loss Noise Induced	Associate	25462672, 28292353, 29301492, 30947719
Hearing Loss Sensorineural	Associate	35580552, 35779349, 37198144
Hernia	Associate	27745870
Hypersensitivity Immediate	Associate	18719945
Mental Disorders	Associate	27058588, 37884635
Myopia	Associate	37884635
Neoplasm Metastasis	Associate	31937901
Nonsyndromic Deafness	Associate	18719945, 19107147, 22815625, 39298473
Nonsyndromic sensorineural hearing loss	Associate	22815625, 37232061
Nonsyndromic sensorineural hearing loss	Stimulate	26445815
Pancreatic Neoplasms	Associate	36740149
Pelvic Inflammatory Disease	Associate	31937901
Pituitary Neoplasms	Associate	36233050
Retinal Dystrophies	Associate	24625443, 40384762
Retinitis Pigmentosa	Associate	25307757, 26338283, 39187782, 39212608
RHYNS syndrome	Associate	36384460
Schizophrenia	Associate	31540999
Usher syndrome type 1B	Associate	16679490, 23451239, 26791358
Usher syndrome type 1F	Associate	17277737, 22815625, 25307757, 36384460, 37232061
Usher Syndrome Type IF	Associate	19107147
Usher Syndromes	Associate	11060213, 16679490, 16963483, 17277737, 18719945, 22690115, 22815625, 24164807, 24618850, 25404053, 25575603, 26338283, 27440999, 34837038, 35580552, 35779349, 36011334 View all (2 more)
Vertigo	Associate	37198144
Vestibular Diseases	Associate	25307757

PCDH15 (protocadherin related 15)